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Svati Hasmukh Shah

Ursula Geller Distinguished Professor of Research in Cardiovascular Diseases
Medicine, Cardiology
Duke Box 104775, Durham, NC 27701
DUMC Box 3445, Durham, NC 27710

Selected Publications


Relationship between body mass index and cardiometabolic health in a multi-ethnic population: A project baseline health study.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVE: Obesity is associated with a higher risk of cardiovascular disease. Understanding the associations between comprehensive health parameters and body mass index (BMI) may lead to targeted prevention efforts. METHODS: Project Baseline Health Study ... Full text Link to item Cite

Proteomics discovery in children and young adults with HIV identifies fibrosis, inflammatory, and immune biomarkers associated with myocardial impairment.

Journal Article AIDS · June 1, 2024 People with HIV are at increased risk of cardiac dysfunction; however, limited tools are available to identify patients at highest risk for future cardiac disease. We performed proteomic profiling using plasma samples from children and young adults with pe ... Full text Link to item Cite

Lipoprotein subclasses are associated with Hepatic steatosis: insights from the prospective multicenter imaging study for the evaluation of chest pain (PROMISE) clinical trial.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVES: To determine the relationship between lipoprotein particle size/number with hepatic steatosis (HS), given its association with traditional lipoproteins and coronary atherosclerosis. METHODS: Individuals with available CT data and blood samples ... Full text Link to item Cite

Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Pulmonary Hypertension.

Journal Article Anesth Analg · May 1, 2024 BACKGROUND: Patients with pulmonary hypertension have a high risk of maternal morbidity and mortality. It is unknown if a trial of labor carries a lower risk of morbidity in these patients compared to a planned cesarean delivery. The objective of this stud ... Full text Link to item Cite

Metabolomic profiling during ex situ normothermic perfusion before heart transplantation defines patterns of substrate utilization and correlates with markers of allograft injury.

Conference J Heart Lung Transplant · May 2024 BACKGROUND: Cardiac metabolism is altered in heart failure and ischemia-reperfusion injury states. We hypothesized that metabolomic profiling during ex situ normothermic perfusion before heart transplantation (HT) would lend insight into myocardial substra ... Full text Link to item Cite

Associations among NMR-measured inflammatory and metabolic biomarkers and accelerated aging in cardiac catheterization patients.

Journal Article Aging (Albany NY) · April 23, 2024 Research into aging has grown substantially with the creation of molecular biomarkers of biological age that can be used to determine age acceleration. Concurrently, nuclear magnetic resonance (NMR) assessment of biomarkers of inflammation and metabolism p ... Full text Link to item Cite

Real-world walking behaviors are associated with early-stage heart failure: a Project Baseline Health Study.

Journal Article J Card Fail · April 4, 2024 BACKGROUND: Data collected via wearables may complement in-clinic assessments to monitor subclinical heart failure (HF). OBJECTIVES: Evaluate the association of sensor-based digital walking measures with HF stage and characterize their correlation with in- ... Full text Link to item Cite

Targeted Metabolomic Profiling of Dapagliflozin in Heart Failure With Preserved Ejection Fraction: The PRESERVED-HF Trial.

Journal Article JACC Heart Fail · April 3, 2024 BACKGROUND: Although sodium glucose co-transporter 2 inhibitors (SGLT2is) improve heart failure (HF)-related symptoms and outcomes in HF with preserved ejection fraction (HFpEF), underlying mechanisms remain unclear. In HF with reduced EF, dapagliflozin al ... Full text Link to item Cite

Physical activity and sleep changes among children during the COVID-19 pandemic.

Journal Article NPJ Digit Med · March 16, 2024 Daily routines, including in-person school and extracurricular activities, are important for maintaining healthy physical activity and sleep habits in children. The COVID-19 pandemic significantly disrupted daily routines as in-person school and activities ... Full text Link to item Cite

Diffuse myocardial fibrosis is uncommon in people with perinatally acquired human immunodeficiency virus infection.

Journal Article AIDS Res Ther · March 4, 2024 BACKGROUND: Cardiovascular disease (CVD) remains a leading cause of death in people living with HIV. Myocardial fibrosis is well-described in HIV infection acquired in adulthood. We evaluate the burden of fibrosis by cardiac magnetic resonance in people wi ... Full text Link to item Cite

Metabolite signature of diabetes remission in individuals with obesity undergoing weight loss interventions.

Journal Article Obesity (Silver Spring) · February 2024 OBJECTIVE: This observational study investigated metabolomic changes in individuals with type 2 diabetes (T2D) after weight loss. We hypothesized that metabolite changes associated with T2D-relevant phenotypes are signatures of improved health. METHODS: Fa ... Full text Link to item Cite

Severe Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Cardiomyopathies.

Journal Article JACC Heart Fail · December 2023 BACKGROUND: Women with cardiomyopathies are at risk for pregnancy complications. The optimal mode of delivery in these patients is guided by expert opinion and limited small studies. OBJECTIVES: The objective of this study is to examine the association of ... Full text Link to item Cite

Next Generation, Modifiable Cardiometabolic Biomarkers: Mitochondrial Adaptation and Metabolic Resilience: A Scientific Statement From the American Heart Association.

Journal Article Circulation · November 28, 2023 Cardiometabolic risk is increasing in prevalence across the life span with disproportionate ramifications for youth at socioeconomic disadvantage. Established risk factors and associated disease progression are harder to reverse as they become entrenched o ... Full text Link to item Cite

Clinical and Echocardiographic Diversity Associated With Physical Fitness in the Project Baseline Health Study: Implications for Heart Failure Staging.

Journal Article Journal of cardiac failure · November 2023 BackgroundClinical and echocardiographic features may carry diverse information about the development of heart failure (HF). Therefore, we determined heterogeneity in clinical and echocardiographic phenotypes and its association with exercise capa ... Full text Cite

Inhaled Epoprostenol Compared With Nitric Oxide for Right Ventricular Support After Major Cardiac Surgery.

Journal Article Circulation · October 2023 BackgroundRight ventricular failure (RVF) is a leading driver of morbidity and death after major cardiac surgery for advanced heart failure, including orthotopic heart transplantation and left ventricular assist device implantation. Inhaled pulmon ... Full text Open Access Cite

Coronary Atherosclerosis Across the Glycemic Spectrum Among Asymptomatic Adults: The Miami Heart Study at Baptist Health South Florida.

Journal Article Circ Cardiovasc Imaging · October 2023 BACKGROUND: The contemporary burden and characteristics of coronary atherosclerosis, assessed using coronary computed tomography angiography (CCTA), is unknown among asymptomatic adults with diabetes and prediabetes in the United States. The pooled cohort ... Full text Link to item Cite

Relationship between body mass index and cardiometabolic health in a multi-ethnic population: A project baseline health study.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVE: Obesity is associated with a higher risk of cardiovascular disease. Understanding the associations between comprehensive health parameters and body mass index (BMI) may lead to targeted prevention efforts. METHODS: Project Baseline Health Study ... Full text Link to item Cite

Proteomics discovery in children and young adults with HIV identifies fibrosis, inflammatory, and immune biomarkers associated with myocardial impairment.

Journal Article AIDS · June 1, 2024 People with HIV are at increased risk of cardiac dysfunction; however, limited tools are available to identify patients at highest risk for future cardiac disease. We performed proteomic profiling using plasma samples from children and young adults with pe ... Full text Link to item Cite

Lipoprotein subclasses are associated with Hepatic steatosis: insights from the prospective multicenter imaging study for the evaluation of chest pain (PROMISE) clinical trial.

Journal Article Am J Prev Cardiol · June 2024 OBJECTIVES: To determine the relationship between lipoprotein particle size/number with hepatic steatosis (HS), given its association with traditional lipoproteins and coronary atherosclerosis. METHODS: Individuals with available CT data and blood samples ... Full text Link to item Cite

Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Pulmonary Hypertension.

Journal Article Anesth Analg · May 1, 2024 BACKGROUND: Patients with pulmonary hypertension have a high risk of maternal morbidity and mortality. It is unknown if a trial of labor carries a lower risk of morbidity in these patients compared to a planned cesarean delivery. The objective of this stud ... Full text Link to item Cite

Metabolomic profiling during ex situ normothermic perfusion before heart transplantation defines patterns of substrate utilization and correlates with markers of allograft injury.

Conference J Heart Lung Transplant · May 2024 BACKGROUND: Cardiac metabolism is altered in heart failure and ischemia-reperfusion injury states. We hypothesized that metabolomic profiling during ex situ normothermic perfusion before heart transplantation (HT) would lend insight into myocardial substra ... Full text Link to item Cite

Associations among NMR-measured inflammatory and metabolic biomarkers and accelerated aging in cardiac catheterization patients.

Journal Article Aging (Albany NY) · April 23, 2024 Research into aging has grown substantially with the creation of molecular biomarkers of biological age that can be used to determine age acceleration. Concurrently, nuclear magnetic resonance (NMR) assessment of biomarkers of inflammation and metabolism p ... Full text Link to item Cite

Real-world walking behaviors are associated with early-stage heart failure: a Project Baseline Health Study.

Journal Article J Card Fail · April 4, 2024 BACKGROUND: Data collected via wearables may complement in-clinic assessments to monitor subclinical heart failure (HF). OBJECTIVES: Evaluate the association of sensor-based digital walking measures with HF stage and characterize their correlation with in- ... Full text Link to item Cite

Targeted Metabolomic Profiling of Dapagliflozin in Heart Failure With Preserved Ejection Fraction: The PRESERVED-HF Trial.

Journal Article JACC Heart Fail · April 3, 2024 BACKGROUND: Although sodium glucose co-transporter 2 inhibitors (SGLT2is) improve heart failure (HF)-related symptoms and outcomes in HF with preserved ejection fraction (HFpEF), underlying mechanisms remain unclear. In HF with reduced EF, dapagliflozin al ... Full text Link to item Cite

Physical activity and sleep changes among children during the COVID-19 pandemic.

Journal Article NPJ Digit Med · March 16, 2024 Daily routines, including in-person school and extracurricular activities, are important for maintaining healthy physical activity and sleep habits in children. The COVID-19 pandemic significantly disrupted daily routines as in-person school and activities ... Full text Link to item Cite

Diffuse myocardial fibrosis is uncommon in people with perinatally acquired human immunodeficiency virus infection.

Journal Article AIDS Res Ther · March 4, 2024 BACKGROUND: Cardiovascular disease (CVD) remains a leading cause of death in people living with HIV. Myocardial fibrosis is well-described in HIV infection acquired in adulthood. We evaluate the burden of fibrosis by cardiac magnetic resonance in people wi ... Full text Link to item Cite

Metabolite signature of diabetes remission in individuals with obesity undergoing weight loss interventions.

Journal Article Obesity (Silver Spring) · February 2024 OBJECTIVE: This observational study investigated metabolomic changes in individuals with type 2 diabetes (T2D) after weight loss. We hypothesized that metabolite changes associated with T2D-relevant phenotypes are signatures of improved health. METHODS: Fa ... Full text Link to item Cite

Severe Maternal Morbidity According to Mode of Delivery Among Pregnant Patients With Cardiomyopathies.

Journal Article JACC Heart Fail · December 2023 BACKGROUND: Women with cardiomyopathies are at risk for pregnancy complications. The optimal mode of delivery in these patients is guided by expert opinion and limited small studies. OBJECTIVES: The objective of this study is to examine the association of ... Full text Link to item Cite

Next Generation, Modifiable Cardiometabolic Biomarkers: Mitochondrial Adaptation and Metabolic Resilience: A Scientific Statement From the American Heart Association.

Journal Article Circulation · November 28, 2023 Cardiometabolic risk is increasing in prevalence across the life span with disproportionate ramifications for youth at socioeconomic disadvantage. Established risk factors and associated disease progression are harder to reverse as they become entrenched o ... Full text Link to item Cite

Clinical and Echocardiographic Diversity Associated With Physical Fitness in the Project Baseline Health Study: Implications for Heart Failure Staging.

Journal Article Journal of cardiac failure · November 2023 BackgroundClinical and echocardiographic features may carry diverse information about the development of heart failure (HF). Therefore, we determined heterogeneity in clinical and echocardiographic phenotypes and its association with exercise capa ... Full text Cite

Inhaled Epoprostenol Compared With Nitric Oxide for Right Ventricular Support After Major Cardiac Surgery.

Journal Article Circulation · October 2023 BackgroundRight ventricular failure (RVF) is a leading driver of morbidity and death after major cardiac surgery for advanced heart failure, including orthotopic heart transplantation and left ventricular assist device implantation. Inhaled pulmon ... Full text Open Access Cite

Coronary Atherosclerosis Across the Glycemic Spectrum Among Asymptomatic Adults: The Miami Heart Study at Baptist Health South Florida.

Journal Article Circ Cardiovasc Imaging · October 2023 BACKGROUND: The contemporary burden and characteristics of coronary atherosclerosis, assessed using coronary computed tomography angiography (CCTA), is unknown among asymptomatic adults with diabetes and prediabetes in the United States. The pooled cohort ... Full text Link to item Cite

Mitochondrial metabolites predict adverse cardiovascular events in individuals with diabetes.

Journal Article JCI insight · September 2023 Metabolic mechanisms underlying the heterogeneity of major adverse cardiovascular (CV) event (MACE) risk in individuals with type 2 diabetes mellitus (T2D) remain unclear. We hypothesized that circulating metabolites reflecting mitochondrial dysfunction pr ... Full text Cite

Creatine and creatinine quantified using nuclear magnetic resonance: A method validation study and clinical associations between circulating creatine and fatigue in kidney transplant recipients.

Journal Article Clin Chim Acta · August 1, 2023 BACKGROUND: A potential contributor to fatigue in kidney transplant recipients (KTR) may be impaired creatine homeostasis. We developed and validated a high-throughput NMR assay allowing for simultaneous measurement of circulating creatine and creatinine, ... Full text Link to item Cite

Epidemiology of Diabetes and Atherosclerotic Cardiovascular Disease Among Asian American Adults: Implications, Management, and Future Directions: A Scientific Statement From the American Heart Association.

Journal Article Circulation · July 4, 2023 Asian American individuals make up the fastest growing racial and ethnic group in the United States. Despite the substantial variability that exists in type 2 diabetes and atherosclerotic cardiovascular disease risk among the different subgroups of Asian A ... Full text Link to item Cite

Prognostic value of CT-derived coronary artery disease characteristics varies by ASCVD risk: insights from the PROMISE trial.

Journal Article Eur Radiol · July 2023 OBJECTIVES: To compare the prognostic value of individual CT-derived coronary artery disease (CAD) characteristics across categories of clinical cardiovascular risk. METHODS: The central core laboratory assessed coronary artery calcium (CAC), obstructive C ... Full text Link to item Cite

Branched-Chain Amino Acids in Computed Tomography-Defined Adipose Depots and Coronary Artery Disease: A PROMISE Trial Biomarker Substudy.

Journal Article J Am Heart Assoc · June 6, 2023 Background The interplay between branched-chain amino acid (BCAA) metabolism, an important pathway in adiposity and cardiometabolic disease, and visceral adipose depots such as hepatic steatosis (HS) and epicardial adipose tissue is unknown. We leveraged t ... Full text Link to item Cite

Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy.

Journal Article Circulation. Genomic and precision medicine · June 2023 BackgroundEpigenetic clocks estimate chronologic age using methylation levels at specific loci. We tested the hypothesis that accelerated epigenetic aging is associated with abnormal values in a range of clinical, imaging, and laboratory character ... Full text Cite

American Heart Association's Children's Strategically Focused Research Network Experience.

Journal Article J Am Heart Assoc · April 4, 2023 The American Heart Association's Strategically Focused Children's Research Network started in July 2017 with 4 unique programs at Children's National Hospital in Washington, DC; Duke University in Durham, North Carolina; University of Utah in Salt Lake Cit ... Full text Link to item Cite

Maternal Cardiovascular Morbidity Events Following Preeclampsia: A Retrospective Cohort Study.

Journal Article Anesth Analg · April 1, 2023 BACKGROUND: Patients with preeclampsia are at high risk for long-term cardiovascular events, yet the short-term, acute cardiovascular complications that follow preeclampsia are understudied. The objective of this study was to compare the short-term, acute ... Full text Link to item Cite

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.

Journal Article Circ Genom Precis Med · April 2023 Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret a ... Full text Link to item Cite

An antiplatelet response gene expression signature is associated with bleeding.

Journal Article Cardiovasc Res · March 31, 2023 AIMS: Gene expression biosignatures may hold promise to individualize antiplatelet therapy in conjunction with current guidelines and risk scores. The Aspirin Response Signature (ARS) score is comprised of a weighted sum of correlated, pro-thrombotic gene ... Full text Link to item Cite

Lipoprotein Subclasses Associated With High-Risk Coronary Atherosclerotic Plaque: Insights From the PROMISE Clinical Trial.

Journal Article J Am Heart Assoc · January 3, 2023 BACKGROUND More than half of major adverse cardiovascular events (MACE) occur in the absence of obstructive coronary artery disease and are often attributed to the rupture of high-risk coronary atherosclerotic plaque (HRP). Blood-based biomarkers that asso ... Full text Link to item Cite

The association of accelerated epigenetic age with all-cause mortality in cardiac catheterization patients as mediated by vascular and cardiometabolic outcomes.

Journal Article Clin Epigenetics · December 3, 2022 BACKGROUND: Epigenetic age is a DNA methylation-based biomarker of aging that is accurate across the lifespan and a range of cell types. The difference between epigenetic age and chronological age, termed age acceleration (AA), is a strong predictor of lif ... Full text Open Access Link to item Cite

Risk factors for cardiovascular disease among individuals with hepatic steatosis.

Journal Article Hepatol Commun · December 2022 Cardiovascular disease (CVD) is the leading cause of mortality in adults with hepatic steatosis (HS). However, risk factors for CVD in HS are unknown. We aimed to identify factors associated with coronary artery disease (CAD) and incident major adverse car ... Full text Link to item Cite

Comprehensive nutrient consumption estimation and metabolic profiling during ketogenic diet and relationship with myocardial glucose uptake on FDG-PET.

Journal Article Eur Heart J Cardiovasc Imaging · November 17, 2022 AIMS: The ketogenic diet (KD) is standard-of-care to achieve myocardial glucose suppression (MGS) for assessing inflammation using fluorine-18 fluorodeoxyglucose-positron emission tomography (FDG-PET). As KD protocols remain highly variable between centres ... Full text Link to item Cite

A Randomized Controlled Trial of Mobile Health Intervention in Patients With Heart Failure and Diabetes.

Journal Article J Card Fail · November 2022 BACKGROUND: Mobile health (mHealth) platforms can affect health behaviors but have not been rigorously tested in randomized trials. OBJECTIVES: We sought to evaluate the effectiveness of a pragmatic mHealth intervention in patients with heart failure (HF) ... Full text Link to item Cite

Association of left ventricular diastolic function with coronary artery calcium score: A Project Baseline Health Study.

Journal Article Journal of cardiovascular computed tomography · November 2022 BackgroundCoronary artery calcium (CAC) and left ventricular diastolic dysfunction (LVDD) are strong predictors of cardiovascular events and share common risk factors. However, their independent association remains unclear.MethodsIn the P ... Full text Cite

General Anxiety Disorder-7 Questionnaire as a marker of low socioeconomic status and inequity.

Journal Article Journal of affective disorders · November 2022 BackgroundThe General Anxiety Disorder-7 (GAD-7) questionnaire is a standard tool used for screening and follow-up of patients with Generalized Anxiety Disorder (GAD). Although it is generally accepted that anxiety correlates with clinical and psy ... Full text Cite

Protein biomarkers of cardiac remodeling and inflammation associated with HFpEF and incident events.

Journal Article Scientific reports · November 2022 There is increasing evidence that HFpEF is a heterogeneous clinical entity and distinct molecular pathways may contribute to pathophysiology. Leveraging unbiased proteomics to identify novel biomarkers, this study seeks to understand the underlying molecul ... Full text Cite

Associations of a polygenic risk score with coronary artery disease phenotypes in the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · October 2022 A polygenic risk score (PGS) is associated with obstructive coronary artery disease (CAD) independent of traditional risk factors. Coronary computed tomography angiography (CTA) can characterize coronary plaques, including features of highrisk CAD. However ... Full text Link to item Cite

Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.

Journal Article Circ Genom Precis Med · October 2022 BACKGROUND: Inherited primary arrhythmia syndromes and arrhythmogenic cardiomyopathies can lead to sudden cardiac arrest in otherwise healthy individuals. The burden and expression of these diseases in a real-world, well-phenotyped cardiovascular populatio ... Full text Link to item Cite

Coupled myovascular expansion directs cardiac growth and regeneration.

Journal Article Development · September 15, 2022 Heart regeneration requires multiple cell types to enable cardiomyocyte (CM) proliferation. How these cells interact to create growth niches is unclear. Here, we profile proliferation kinetics of cardiac endothelial cells (CECs) and CMs in the neonatal mou ... Full text Link to item Cite

Metabolomic Profiling of the Effects of Dapagliflozin in Heart Failure With Reduced Ejection Fraction: DEFINE-HF.

Journal Article Circulation · September 13, 2022 BACKGROUND: Sodium-glucose cotransporter-2 inhibitors are foundational therapy in patients with heart failure with reduced ejection fraction (HFrEF), but underlying mechanisms of benefit are not well defined. We sought to investigate the relationships betw ... Full text Link to item Cite

Heart Failure Strategically Focused Research Network: Summary of Results and Future Directions.

Journal Article Journal of the American Heart Association · September 2022 Heart failure remains among the most common and morbid health conditions. The Heart Failure Strategically Focused Research Network (HF SFRN) was funded by the American Heart Association to facilitate collaborative, high-impact research in the field of hear ... Full text Cite

Altered branched-chain α-keto acid metabolism is a feature of NAFLD in individuals with severe obesity.

Journal Article JCI Insight · August 8, 2022 Hepatic de novo lipogenesis is influenced by the branched-chain α-keto acid dehydrogenase (BCKDH) kinase (BCKDK). Here, we aimed to determine whether circulating levels of the immediate substrates of BCKDH, the branched-chain α-keto acids (BCKAs), and hepa ... Full text Link to item Cite

Multi-dimensional characterization of prediabetes in the Project Baseline Health Study.

Journal Article Cardiovascular diabetology · July 2022 BackgroundWe examined multi-dimensional clinical and laboratory data in participants with normoglycemia, prediabetes, and diabetes to identify characteristics of prediabetes and predictors of progression from prediabetes to diabetes or reversion t ... Full text Cite

Plasma metabolites associated with functional and clinical outcomes in heart failure with reduced ejection fraction with and without type 2 diabetes.

Journal Article Sci Rep · June 2, 2022 Heart failure with reduced ejection fraction (HFrEF) is increasingly treated with medications for type 2 diabetes mellitus (T2DM). Whether metabolic derangements in HFrEF and T2DM are associated with differential outcomes remains unclear. Therefore, unders ... Full text Link to item Cite

Insulin Growth Factor Phenotypes in Heart Failure With Preserved Ejection Fraction, an INSPIRE Registry and CATHGEN Study.

Journal Article J Card Fail · June 2022 BACKGROUND: The insulin-like growth factor (IGF) axis emerged as an important pathway in heart failure with preserved ejection (HFpEF). We aimed to identify IGF phenotypes associated with HFpEF in the context of high-dimensional proteomic profiling. METHOD ... Full text Link to item Cite

Comparison of Exogenous Ketone Administration Versus Dietary Carbohydrate Restriction on Myocardial Glucose Suppression: A Crossover Clinical Trial.

Journal Article J Nucl Med · May 2022 The ketogenic diet (KD) is the standard of care to achieve myocardial glucose suppression (MGS) for assessing inflammation using 18F-FDG PET. However, failure to suppress physiologic glucose uptake remains a significant diagnostic barrier. Although extendi ... Full text Link to item Cite

Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.

Journal Article European heart journal · May 2022 AimsMitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical t ... Full text Cite

A proteomic surrogate for cardiovascular outcomes that is sensitive to multiple mechanisms of change in risk.

Journal Article Sci Transl Med · April 6, 2022 A reliable, individualized, and dynamic surrogate of cardiovascular risk, synoptic for key biologic mechanisms, could shorten the path for drug development, enhance drug cost-effectiveness and improve patient outcomes. We used highly multiplexed proteomics ... Full text Link to item Cite

Risk factors, transcriptomics, and outcomes of myocardial injury following lower extremity revascularization.

Journal Article Scientific reports · April 2022 Myocardial injury after non-cardiac surgery (MINS) is common. We investigated the incidence and outcomes of MINS, and mechanistic underpinnings using pre-operative whole blood gene expression profiling in a prospective cohort study of individuals undergoin ... Full text Cite

Acute Echocardiographic Effects of Exogenous Ketone Administration in Healthy Participants.

Journal Article J Am Soc Echocardiogr · March 2022 BACKGROUND: Interest in therapeutic applications of exogenous ketones has grown significantly, spanning patients with heart failure to endurance athletes. Exogenous ketones engender significant effects on cardiac function in heart failure and provide an er ... Full text Link to item Cite

Heart Disease and Stroke Statistics-2022 Update: A Report From the American Heart Association.

Journal Article Circulation · February 22, 2022 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, ... Full text Link to item Cite

Sexual Dimorphism in Cardiovascular Biomarkers: Clinical and Research Implications.

Journal Article Circ Res · February 18, 2022 Sex-based differences in cardiovascular disease presentation, diagnosis, and response to therapies are well established, but mechanistic understanding and translation to clinical applications are limited. Blood-based biomarkers have become an important too ... Full text Link to item Cite

Empagliflozin in the treatment of heart failure with reduced ejection fraction in addition to background therapies and therapeutic combinations (EMPEROR-Reduced): a post-hoc analysis of a randomised, double-blind trial.

Journal Article Lancet Diabetes Endocrinol · January 2022 BACKGROUND: It is important to evaluate whether a new treatment for heart failure with reduced ejection fraction (HFrEF) provides additive benefit to background foundational treatments. As such, we aimed to evaluate the efficacy and safety of empagliflozin ... Full text Link to item Cite

Are risk factors necessary for pretest probability assessment of coronary artery disease? A patient similarity network analysis of the PROMISE trial.

Journal Article J Cardiovasc Comput Tomogr · 2022 BACKGROUND: Pretest probability (PTP) calculators utilize epidemiological-level findings to provide patient-level risk assessment of obstructive coronary artery disease (CAD). However, their limited accuracies question whether dissimilarities in risk facto ... Full text Link to item Cite

Future Perspectives of Cardiovascular Biomarker Utilization in Cancer Survivors: A Scientific Statement From the American Heart Association.

Journal Article Circulation · December 21, 2021 Improving cancer survival represents the most significant effect of precision medicine and personalized molecular and immunologic therapeutics. Cardiovascular health becomes henceforth a key determinant for the direction of overall outcomes after cancer. C ... Full text Link to item Cite

Urine tricarboxylic acid cycle signatures of early-stage diabetic kidney disease.

Journal Article Metabolomics · December 20, 2021 INTRODUCTION: Urine tricarboxylic acid (TCA) cycle organic anions (OAs) are elevated in diabetes and may be biomarkers for diabetic kidney disease (DKD) progression. OBJECTIVES: We assessed associations of 10 urine TCA cycle OAs with estimated glomerular f ... Full text Open Access Link to item Cite

A Phenome Wide Association Study of Severe COVID-19 Genetic Risk Variants

Journal Article · December 11, 2021 AbstractBackgroundGenetic loci associated with risk of severe COVID-19 infection have been identified and individuals with complicated COVID-19 infections often have multiple comorbidities ... Full text Cite

Proteomic profiling identifies CLEC4C expression as a novel biomarker of primary graft dysfunction after heart transplantation.

Journal Article J Heart Lung Transplant · December 2021 PURPOSE: Clinical models to identify patients at high risk of primary graft dysfunction (PGD) after heart transplantation (HT) are limited, and the underlying pathophysiology of this common post-transplant complication remains poorly understood. We sought ... Full text Link to item Cite

Noninvasive Risk Score to Screen for Pulmonary Hypertension With Elevated Pulmonary Vascular Resistance in Diseases of Chronic Volume Overload.

Journal Article Am J Cardiol · November 15, 2021 Volume overload promotes pulmonary hypertension (PH) through pulmonary venous hypertension. However, PH with elevated pulmonary vascular resistance (hereafter PH-PVR) may develop in patients with diseases of volume overload, such as heart failure or chroni ... Full text Link to item Cite

Insulin action, type 2 diabetes, and branched-chain amino acids: A two-way street.

Journal Article Molecular metabolism · October 2021 BackgroundA strong association of obesity and insulin resistance with increased circulating levels of branched-chain and aromatic amino acids and decreased glycine levels has been recognized in human subjects for decades.Scope of reviewMo ... Full text Cite

Transmethylamine-N-Oxide Is Associated With Diffuse Cardiac Fibrosis in People Living With HIV.

Journal Article J Am Heart Assoc · August 17, 2021 Background People living with HIV are at increased risk of developing diastolic dysfunction, heart failure, and sudden cardiac death, all of which have been characterized by higher levels of myocardial fibrosis. Transmethylamine-N-oxide (TMAO), a dietary g ... Full text Link to item Cite

Circulating long chain acylcarnitines and outcomes in diabetic heart failure: an HF-ACTION clinical trial substudy.

Journal Article Cardiovasc Diabetol · August 3, 2021 BACKGROUND: Whether differences in circulating long chain acylcarnitines (LCAC) are seen in heart failure (HF) patients with and without diabetes mellitus (DM), and whether these biomarkers report on exercise capacity and clinical outcomes, remains unknown ... Full text Link to item Cite

Molecular Aspects of Lifestyle and Environmental Effects in Patients With Diabetes: JACC Focus Seminar.

Journal Article J Am Coll Cardiol · August 3, 2021 Diabetes is characterized as an integrated condition of dysregulated metabolism across multiple tissues, with well-established consequences on the cardiovascular system. Recent advances in precision phenotyping in biofluids and tissues in large human obser ... Full text Link to item Cite

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.

Journal Article Science (New York, N.Y.) · July 2021 Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated a ... Full text Cite

Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci.

Journal Article Genome Med · April 30, 2021 BACKGROUND: DNA methylation (DNAm) is associated with gene regulation and estimated glomerular filtration rate (eGFR), a measure of kidney function. Decreased eGFR is more common among US Hispanics and African Americans. The causes for this are poorly unde ... Full text Open Access Link to item Cite

Association of Metabolic Phenotypes With Coronary Artery Disease and Cardiovascular Events in Patients With Stable Chest Pain.

Journal Article Diabetes Care · April 2021 OBJECTIVE: Obesity and metabolic syndrome are associated with major adverse cardiovascular events (MACE). However, whether distinct metabolic phenotypes differ in risk for coronary artery disease (CAD) and MACE is unknown. We sought to determine the associ ... Full text Link to item Cite

The Pediatric Obesity Microbiome and Metabolism Study (POMMS): Methods, Baseline Data, and Early Insights.

Journal Article Obesity (Silver Spring) · March 2021 OBJECTIVE: The purpose of this study was to establish a biorepository of clinical, metabolomic, and microbiome samples from adolescents with obesity as they undergo lifestyle modification. METHODS: A total of 223 adolescents aged 10 to 18 years with BMI ≥9 ... Full text Open Access Link to item Cite

Metabolites and diabetes remission after weight loss.

Journal Article Nutr Diabetes · February 24, 2021 There is marked heterogeneity in the response to weight loss interventions with regards to weight loss amount and metabolic improvement. We sought to identify biomarkers predictive of type 2 diabetes remission and amount of weight loss in individuals with ... Full text Link to item Cite

Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.

Journal Article Circulation · February 23, 2021 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, ... Full text Open Access Link to item Cite

Associations of Maternal Cardiovascular Health in Pregnancy With Offspring Cardiovascular Health in Early Adolescence.

Journal Article JAMA · February 16, 2021 IMPORTANCE: Pregnancy may be a key window to optimize cardiovascular health (CVH) for the mother and influence lifelong CVH for her child. OBJECTIVE: To examine associations between maternal gestational CVH and offspring CVH. DESIGN, SETTING, AND PARTICIPA ... Full text Link to item Cite

Associations of gestational cardiovascular health with pregnancy outcomes: the Hyperglycemia and Adverse Pregnancy Outcome study.

Journal Article Am J Obstet Gynecol · February 2021 BACKGROUND: The American Heart Association's formal characterization of cardiovascular health combines several metrics in a health-oriented, rather than disease-oriented, framework. Although cardiovascular health assessment during pregnancy has been recomm ... Full text Link to item Cite

Metabolomic profiling identifies complex lipid species and amino acid analogues associated with response to weight loss interventions.

Journal Article PLoS One · 2021 Obesity is an epidemic internationally. While weight loss interventions are efficacious, they are compounded by heterogeneity with regards to clinically relevant metabolic responses. Thus, we sought to identify metabolic biomarkers that are associated with ... Full text Link to item Cite

Return of individual research results: What do participants prefer and expect?

Journal Article PloS one · January 2021 Newer data platforms offer increased opportunity to share multidimensional health data with research participants, but the preferences of participants for which data to receive and how is evolving. Our objective is to describe the preferences and expectati ... Full text Cite

Risk Factor Burden and Long-Term Prognosis of Patients With Premature Coronary Artery Disease.

Journal Article J Am Heart Assoc · December 15, 2020 Background Coronary artery disease (CAD) is increasing among young adults. We aimed to describe the cardiovascular risk factors and long-term prognosis of premature CAD. Methods and Results Using the Duke Databank for Cardiovascular Disease, we evaluated 3 ... Full text Link to item Cite

Novel plasma biomarkers improve discrimination of metabolic health independent of weight.

Journal Article Sci Rep · December 7, 2020 We sought to determine if novel plasma biomarkers improve traditionally defined metabolic health (MH) in predicting risk of cardiovascular disease (CVD) events irrespective of weight. Poor MH was defined in CATHGEN biorepository participants (n > 9300), a ... Full text Link to item Cite

Accelerated epigenetic age as a biomarker of cardiovascular sensitivity to traffic-related air pollution.

Journal Article Aging (Albany NY) · December 7, 2020 BACKGROUND: Accelerated epigenetic age has been proposed as a biomarker of increased aging, which may indicate disruptions in cellular and organ system homeostasis and thus contribute to sensitivity to environmental exposures. METHODS: Using 497 participan ... Full text Open Access Link to item Cite

Apolipoprotein L1 (APOL1) Coding Variants Are Associated With Creatinine Rise After Cardiac Surgery.

Journal Article Journal of cardiothoracic and vascular anesthesia · December 2020 ObjectiveAcute kidney injury (AKI) is a complication of cardiac surgery that is considerably more common in African Americans (1.5-fold). Although homozygous status for apolipoprotein L1 (APOL1) risk alleles is associated with chronic kidney disea ... Full text Cite

Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.

Journal Article Circ Genom Precis Med · December 2020 BACKGROUND: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). METHODS: To test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic assessment of genet ... Full text Link to item Cite

Muscle-Liver Trafficking of BCAA-Derived Nitrogen Underlies Obesity-Related Glycine Depletion.

Journal Article Cell Rep · November 10, 2020 Glycine levels are inversely associated with branched-chain amino acids (BCAAs) and cardiometabolic disease phenotypes, but biochemical mechanisms that explain these relationships remain uncharted. Metabolites and genes related to BCAA metabolism and nitro ... Full text Link to item Cite

Evaluating the precision of EBF1 SNP x stress interaction association: sex, race, and age differences in a big harmonized data set of 28,026 participants.

Journal Article Transl Psychiatry · October 20, 2020 In prior work, we identified a novel gene-by-stress association of EBF1's common variation (SNP rs4704963) with obesity (i.e., hip, waist) in Whites, which was further strengthened through multiple replications using our synthetic stress measure. We now ex ... Full text Open Access Link to item Cite

Obesity Genomics and Metabolomics: a Nexus of Cardiometabolic Risk.

Journal Article Curr Cardiol Rep · October 10, 2020 PURPOSE OF REVIEW: Obesity is a significant international public health epidemic with major downstream consequences on morbidity and mortality. While lifestyle factors contribute, there is an evolving understanding of genomic and metabolomic pathways invol ... Full text Link to item Cite

Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

Journal Article Circ Genom Precis Med · October 2020 BACKGROUND: Familial sitosterolemia is a rare Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. Affected individuals typically have complete genetic deficiency-homozygous loss-of-function (LoF) variants ... Full text Link to item Cite

Identification of Undetected Monogenic Cardiovascular Disorders.

Journal Article J Am Coll Cardiol · August 18, 2020 BACKGROUND: Monogenic diseases are individually rare but collectively common, and are likely underdiagnosed. OBJECTIVES: The purpose of this study was to estimate the prevalence of monogenic cardiovascular diseases (MCVDs) and potentially missed diagnoses ... Full text Link to item Cite

Lipoprotein (a): An Update on a Marker of Residual Risk and Associated Clinical Manifestations.

Journal Article The American journal of cardiology · July 2020 Lipoprotein (a) [Lp(a)] is a low-density, cholesterol-containing lipoprotein that differs from other low-density lipoproteins due to the presence of apolipoprotein(a) bound to its surface apolipoprotein B100. Multiple epidemiologic studies, including Mende ... Full text Cite

Rationale and design of "Hearts & Parks": study protocol for a pragmatic randomized clinical trial of an integrated clinic-community intervention to treat pediatric obesity.

Journal Article BMC Pediatr · June 26, 2020 BACKGROUND: The prevalence of child and adolescent obesity and severe obesity continues to increase despite decades of policy and research aimed at prevention. Obesity strongly predicts cardiovascular and metabolic disease risk; both begin in childhood. Ch ... Full text Link to item Cite

Preliminary evidence of effects of potassium chloride on a metabolomic path to diabetes and cardiovascular disease.

Journal Article Metabolomics · June 18, 2020 INTRODUCTION: Low potassium intake can affect cardiovascular disease (CVD) risk and cardiometabolic risk factors. OBJECTIVE: We hypothesize that potassium chloride (KCl) supplementation can improve cardiovascular risk metabolomic profile. METHODS: In this ... Full text Link to item Cite

Diastolic Dysfunction in Patients With Human Immunodeficiency Virus Receiving Antiretroviral Therapy: Results From the CHART Study.

Journal Article J Card Fail · May 2020 BACKGROUND: Diastolic dysfunction (DD) is common and occurs at an earlier age among human immunodeficiency virus-infected (HIV+) individuals, but the mechanisms and consequences of DD among HIV+ individuals are unclear. METHODS AND RESULTS: The Characteriz ... Full text Link to item Cite

Circulating MicroRNA Profiling in Non-ST Elevated Coronary Artery Syndrome Highlights Genomic Associations with Serial Platelet Reactivity Measurements.

Journal Article Sci Rep · April 10, 2020 Changes in platelet physiology are associated with simultaneous changes in microRNA concentrations, suggesting a role for microRNA in platelet regulation. Here we investigated potential associations between microRNA and platelet reactivity (PR), a marker o ... Full text Open Access Link to item Cite

Heart Disease and Stroke Statistics-2020 Update: A Report From the American Heart Association.

Journal Article Circulation · March 3, 2020 BACKGROUND: The American Heart Association, in conjunction with the National Institutes of Health, annually reports on the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smokin ... Full text Link to item Cite

Association of obesity with cardiovascular outcomes in patients with type 2 diabetes and cardiovascular disease: Insights from TECOS.

Journal Article Am Heart J · January 2020 BACKGROUND: Obesity is a risk factor for type 2 diabetes (T2D) and cardiovascular disease (CVD). Whether obesity affects outcomes among those with T2D and atherosclerotic CVD (ASCVD) remains uncertain. Our objective was to investigate the relationship betw ... Full text Link to item Cite

Learning autoencoders with relational regularization

Journal Article 37th International Conference on Machine Learning, ICML 2020 · January 1, 2020 A new algorithmic framework is proposed for learning autoencoders of data distributions. We minimize the discrepancy between the model and target distributions, with a relational regularization on the learnable latent prior. This regularization penalizes t ... Cite

The Project Baseline Health Study: a step towards a broader mission to map human health.

Journal Article NPJ digital medicine · January 2020 The Project Baseline Health Study (PBHS) was launched to map human health through a comprehensive understanding of both the health of an individual and how it relates to the broader population. The study will contribute to the creation of a biomedical info ... Full text Open Access Cite

Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1).

Journal Article J Am Heart Assoc · November 5, 2019 Background DNA methylation is implicated in many chronic diseases and may contribute to mortality. Therefore, we conducted an epigenome-wide association study (EWAS) for all-cause mortality with whole-transcriptome data in a cardiovascular cohort (CATHGEN ... Full text Link to item Cite

Associations of osteopontin and NT-proBNP with circulating miRNA levels in acute coronary syndrome.

Journal Article Physiol Genomics · October 1, 2019 The genomic regulatory networks underlying the pathogenesis of non-ST-segment elevation acute coronary syndrome (NSTE-ACS) are incompletely understood. As intermediate traits, protein biomarkers report on underlying disease severity and prognosis in NSTE-A ... Full text Link to item Cite

Global Longitudinal Strain and Immune Status in Patients Living With Human Immunodeficiency Virus.

Journal Article Am J Cardiol · September 15, 2019 Improvement in survival in patients living with human immunodeficiency virus (PLHIV) has led to increased prevalence of cardiovascular disease. Whether HIV-associated immune dysfunction is associated with preclinical left ventricular (LV) dysfunction despi ... Full text Link to item Cite

The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies.

Journal Article Am J Epidemiol · June 1, 2019 The Consortium of Metabolomics Studies (COMETS) was established in 2014 to facilitate large-scale collaborative research on the human metabolome and its relationship with disease etiology, diagnosis, and prognosis. COMETS comprises 47 cohorts from Asia, Eu ... Full text Link to item Cite

Peripheral blood metabolite profiles associated with new onset atrial fibrillation.

Journal Article Am Heart J · May 2019 BACKGROUND: Peripheral blood metabolite profiles have yielded mechanistic insights into various cardiovascular disease states. We hypothesized that peripheral blood metabolite profiles would be associated with new onset atrial fibrillation (AF). METHODS AN ... Full text Link to item Cite

Sex differences in management and outcomes of patients with stable symptoms suggestive of coronary artery disease: Insights from the PROMISE trial.

Journal Article Am Heart J · February 2019 BACKGROUND: Although sex differences exist in the management of acute coronary syndromes, less is known about the management and outcomes of women and men with suspected coronary artery disease being evaluated with noninvasive testing (NIT). METHODS: We in ... Full text Link to item Cite

High-Density Lipoprotein Particle Subfractions in Heart Failure With Preserved or Reduced Ejection Fraction.

Journal Article Journal of the American College of Cardiology · January 2019 BackgroundCirculating high-density lipoprotein particle (HDL-P) subfractions impact atherogenesis, inflammation, and endothelial function, all of which are implicated in the pathobiology of heart failure (HF).ObjectivesThe authors sought ... Full text Cite

Pilot study of myocardial ischemia-induced metabolomic changes in emergency department patients undergoing stress testing.

Journal Article PLoS One · 2019 BACKGROUND: The heart is a metabolically active organ, and plasma acylcarnitines are associated with long-term risk for myocardial infarction. We hypothesized that myocardial ischemia from cardiac stress testing will produce dynamic changes in acylcarnitin ... Full text Open Access Link to item Cite

Evaluating DNA methylation age on the Illumina MethylationEPIC Bead Chip.

Journal Article PLoS One · 2019 DNA methylation age (DNAm age) has become a widely utilized epigenetic biomarker for the aging process. The Horvath method for determining DNAm age is perhaps the most widely utilized and validated DNA methylation age assessment measure. Horvath DNAm age i ... Full text Link to item Cite

The two-pore domain potassium channel TREK-1 mediates cardiac fibrosis and diastolic dysfunction.

Journal Article J Clin Invest · November 1, 2018 Cardiac two-pore domain potassium channels (K2P) exist in organisms from Drosophila to humans; however, their role in cardiac function is not known. We identified a K2P gene, CG8713 (sandman), in a Drosophila genetic screen and show that sandman is critica ... Full text Link to item Cite

Genome-Wide Association Study Links Receptor Tyrosine Kinase Inhibitor Sprouty 2 to Thrombocytopenia after Coronary Artery Bypass Surgery.

Conference Thrombosis and haemostasis · September 2018 Introduction Thrombocytopenia after cardiac surgery independently predicts stroke, acute kidney injury and death. To understand the underlying risks and mechanisms, we analysed genetic variations associated with thrombocytopenia in patients underg ... Full text Cite

Improvement in insulin resistance after gastric bypass surgery is correlated with a decline in plasma 2-hydroxybutyric acid.

Journal Article Surg Obes Relat Dis · August 2018 BACKGROUND: Gastric bypass surgery for weight reduction often corrects dysglycemia in diabetic patients, but a full understanding of the underlying biochemical pathways continues to be investigated. OBJECTIVES: To explore the effects of weight loss by surg ... Full text Link to item Cite

Determinants of Left Ventricular Hypertrophy and Diastolic Dysfunction in an HIV Clinical Cohort.

Journal Article J Card Fail · August 2018 OBJECTIVE: The aim of this work was to investigate determinants of structural myocardial abnormalities in persons living with human immunodeficiency virus (PLWH). METHODS AND RESULTS: We reviewed archived transthoracic echocardiograms (TTEs) performed on P ... Full text Link to item Cite

Atherosclerotic Cardiovascular Disease in South Asians in the United States: Epidemiology, Risk Factors, and Treatments: A Scientific Statement From the American Heart Association.

Journal Article Circulation · July 3, 2018 South Asians (from Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka) make up one quarter of the world's population and are one of the fastest-growing ethnic groups in the United States. Although native South Asians share genetic and ... Full text Link to item Cite

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Journal Article Nat Commun · June 13, 2018 Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decreas ... Full text Link to item Cite

Multi-ethnic genome-wide association study for atrial fibrillation.

Journal Article Nat Genet · June 11, 2018 Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individual ... Full text Link to item Cite

Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association.

Journal Article Circ Genom Precis Med · June 2018 The completion of the Human Genome Project has unleashed a wealth of human genomics information, but it remains unclear how best to implement this information for the benefit of patients. The standard approach of biomedical research, with researchers pursu ... Full text Link to item Cite

Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association.

Journal Article Circulation · May 8, 2018 Spontaneous coronary artery dissection (SCAD) has emerged as an important cause of acute coronary syndrome, myocardial infarction, and sudden death, particularly among young women and individuals with few conventional atherosclerotic risk factors. Patient- ... Full text Link to item Cite

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · May 2018 In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article. ... Full text Link to item Cite

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · May 2018 In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for We ... Full text Link to item Cite

Cardiovascular Metabolomics.

Journal Article Circ Res · April 27, 2018 Disturbances in cardiac metabolism underlie most cardiovascular diseases. Metabolomics, one of the newer omics technologies, has emerged as a powerful tool for defining changes in both global and cardiac-specific metabolism that occur across a spectrum of ... Full text Link to item Cite

CYP3A4 genotype is associated with sildenafil concentrations in patients with heart failure with preserved ejection fraction.

Journal Article Pharmacogenomics J · April 2018 Despite its established inter-individual variability, sildenafil has been the subject of only a few pharmacogenetic investigations, with limited data regarding the genetic modulators of its pharmacokinetics. We conducted a pharmacogenetic sub-study of pati ... Full text Link to item Cite

Diastolic Dysfunction in Individuals With Human Immunodeficiency Virus Infection: Literature Review, Rationale and Design of the Characterizing Heart Function on Antiretroviral Therapy (CHART) Study.

Journal Article Journal of cardiac failure · April 2018 Antiretroviral therapy (ART) has been associated with a shift in the epidemiology of human immunodeficiency virus (HIV)-associated cardiomyopathy from a phenotype of primarily left ventricular (LV) systolic dysfunction to LV diastolic dysfunction (DD). Pat ... Full text Cite

Metabolites predict cardiovascular disease events in persons living with HIV: a pilot case-control study.

Journal Article Metabolomics · March 2018 INTRODUCTION: Persons living with HIV (PLWH) are at higher risk for cardiovascular disease (CVD) events than uninfected persons. Current risk-stratification methods to define PLWH at highest risk for CVD events are lacking. METHODS: Using tandem flow injec ... Full text Link to item Cite

Associations Between Residential Proximity to Traffic and Vascular Disease in a Cardiac Catheterization Cohort.

Journal Article Arterioscler Thromb Vasc Biol · January 2018 OBJECTIVE: Exposure to mobile source emissions is nearly ubiquitous in developed nations and is associated with multiple adverse health outcomes. There is an ongoing need to understand the specificity of traffic exposure associations with vascular outcomes ... Full text Link to item Cite

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Journal Article Nat Genet · January 2018 Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challe ... Full text Link to item Cite

Lack of Association of a Functional Polymorphism in the Serotonin Receptor Gene With Body Mass Index and Depressive Symptoms in a Large Meta-Analysis of Population Based Studies.

Journal Article Front Genet · 2018 The serotonin receptor 5-HTR2C is thought to be involved in the function of multiple brain structures. Consequently, the HTR2C gene has been studied extensively with respect to its association with a variety of phenotypes. One coding variant in the HTR2C g ... Full text Open Access Link to item Cite

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

Journal Article Lancet Neurol · November 2017 BACKGROUND: Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-a ... Full text Link to item Cite

Recommendations for Improving Identification and Quantification in Non-Targeted, GC-MS-Based Metabolomic Profiling of Human Plasma.

Journal Article Metabolites · August 25, 2017 The field of metabolomics as applied to human disease and health is rapidly expanding. In recent efforts of metabolomics research, greater emphasis has been placed on quality control and method validation. In this study, we report an experience with qualit ... Full text Link to item Cite

Sildenafil Treatment in Heart Failure With Preserved Ejection Fraction: Targeted Metabolomic Profiling in the RELAX Trial.

Journal Article JAMA cardiology · August 2017 ImportancePhosphodiesterase-5 inhibition with sildenafil compared with a placebo had no effect on the exercise capacity or clinical status of patients with heart failure with preserved ejection fraction (HFpEF) in the PhosphodiesteRasE-5 Inhibitio ... Full text Cite

Brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism is associated with disease severity and incidence of cardiovascular events in a patient cohort.

Journal Article Am Heart J · August 2017 BACKGROUND: The rs6265 (Val66Met) single-nucleotide polymorphism in the BDNF gene has been related to a number of endophenotypes that have in turn been shown to confer risk for atherosclerotic cardiovascular disease (CVD). To date, however, very few studie ... Full text Link to item Cite

Atherogenic Lipoprotein Determinants of Cardiovascular Disease and Residual Risk Among Individuals With Low Low-Density Lipoprotein Cholesterol.

Journal Article J Am Heart Assoc · July 21, 2017 BACKGROUND: Levels of LDL (low-density lipoprotein) cholesterol in the population are declining, and increasing attention is being focused on residual lipid-related pathways of atherosclerotic cardiovascular disease risk beyond LDL cholesterol. Among indiv ... Full text Link to item Cite

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

Journal Article N Engl J Med · July 20, 2017 BACKGROUND: Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known w ... Full text Link to item Cite

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions.

Journal Article Circulation · June 13, 2017 BACKGROUND: Common diseases such as coronary heart disease (CHD) are complex in etiology. The interaction of genetic susceptibility with lifestyle factors may play a prominent role. However, gene-lifestyle interactions for CHD have been difficult to identi ... Full text Link to item Cite

Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome.

Journal Article Atherosclerosis · June 2017 BACKGROUND AND AIMS: Although circulating microRNA (miRNAs) have emerged as biomarkers predicting mortality in acute coronary syndrome (ACS), more data are needed to understand these mechanisms. Mapping miRNAs to high-risk traits may identify miRNAs involv ... Full text Link to item Cite

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Journal Article Nat Genet · June 2017 Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the g ... Full text Link to item Cite

A novel approach for measuring residential socioeconomic factors associated with cardiovascular and metabolic health.

Journal Article J Expo Sci Environ Epidemiol · May 2017 Individual-level characteristics, including socioeconomic status, have been associated with poor metabolic and cardiovascular health; however, residential area-level characteristics may also independently contribute to health status. In the current study, ... Full text Link to item Cite

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

Journal Article J Am Coll Cardiol · April 25, 2017 BACKGROUND: Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin-like 3 (ANGPTL3). Whether ANGPTL3 deficiency reduces ris ... Full text Link to item Cite

Potential Impact and Study Considerations of Metabolomics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.

Journal Article Circ Cardiovasc Genet · April 2017 Through the measure of thousands of small-molecule metabolites in diverse biological systems, metabolomics now offers the potential for new insights into the factors that contribute to complex human diseases such as cardiovascular disease. Targeted metabol ... Full text Link to item Cite

A pharmacogenetic investigation of intravenous furosemide in decompensated heart failure: a meta-analysis of three clinical trials.

Conference Pharmacogenomics J · March 2017 We conducted a meta-analysis of pharmacogenomic substudies of three randomized trials conducted in patients with decompensated heart failure (HF) that were led by National Heart Lung and Blood Institute (NHLBI)-funded HF Network to test the hypothesis that ... Full text Link to item Cite

Plasma acylcarnitines are associated with pulmonary hypertension.

Journal Article Pulm Circ · March 2017 Quantifying metabolic derangements in pulmonary hypertension (PH) by plasma metabolomics could identify biomarkers useful for diagnosis and treatment. The objective of this paper is to test the hypotheses that circulating metabolites are differentially exp ... Full text Link to item Cite

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Journal Article J Am Coll Cardiol · February 21, 2017 BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES: This study sought ... Full text Link to item Cite

Rare and low-frequency coding variants alter human adult height.

Journal Article Nature · February 9, 2017 Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in ... Full text Link to item Cite

An age- and sex-specific gene expression score is associated with revascularization and coronary artery disease: Insights from the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial.

Journal Article Am Heart J · February 2017 BACKGROUND: Identifying predictors of coronary artery disease (CAD)-related procedures and events remains a priority. METHODS: We measured an age- and sex-specific gene expression score (ASGES) previously validated to detect obstructive CAD (oCAD) in sympt ... Full text Link to item Cite

Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization.

Journal Article Cardiorenal Med · February 2017 BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by ... Full text Link to item Cite

A Novel Protein Glycan-Derived Inflammation Biomarker Independently Predicts Cardiovascular Disease and Modifies the Association of HDL Subclasses with Mortality.

Journal Article Clin Chem · January 2017 BACKGROUND: Evidence suggests that systemic inflammation may adversely impact HDL function. In this study we sought to evaluate the independent and incremental predictive performance of GlycA-a novel serum inflammatory biomarker that is an aggregate measur ... Full text Link to item Cite

A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic.

Journal Article PLoS One · 2017 Air pollution is a worldwide contributor to cardiovascular disease mortality and morbidity. Traffic-related air pollution is a widespread environmental exposure and is associated with multiple cardiovascular outcomes such as coronary atherosclerosis, perip ... Full text Link to item Cite

Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk.

Journal Article PLoS One · 2017 Glatiramer acetate is used therapeutically in multiple sclerosis but also known for adverse effects including elevated coronary artery disease (CAD) risk. The mechanisms underlying the cardiovascular side effects of the medication are unclear. Here, we mad ... Full text Link to item Cite

Associations among plasma metabolite levels and short-term exposure to PM2.5 and ozone in a cardiac catheterization cohort.

Journal Article Environ Int · December 2016 RATIONALE: Exposure to ambient particulate matter (PM) and ozone has been associated with cardiovascular disease (CVD). However, the mechanisms linking PM and ozone exposure to CVD remain poorly understood. OBJECTIVE: This study explored associations betwe ... Full text Link to item Cite

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis.

Journal Article Int J Epidemiol · December 1, 2016 BACKGROUND: We investigated causal effect of completed growth, measured by adult height, on coronary heart disease (CHD), stroke and cardiovascular traits, using instrumental variable (IV) Mendelian randomization meta-analysis. METHODS: We developed an all ... Full text Link to item Cite

Short-term effects of air temperature on plasma metabolite concentrations in patients undergoing cardiac catheterization.

Journal Article Environ Res · November 2016 BACKGROUND: Epidemiological studies have shown associations between air temperature and cardiovascular health outcomes. Metabolic dysregulation might also play a role in the development of cardiovascular disease. OBJECTIVES: To investigate short-term tempe ... Full text Link to item Cite

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.

Journal Article Sci Rep · October 12, 2016 In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analys ... Full text Link to item Cite

Metabolomic Profiling Identifies Novel Circulating Biomarkers of Mitochondrial Dysfunction Differentially Elevated in Heart Failure With Preserved Versus Reduced Ejection Fraction: Evidence for Shared Metabolic Impairments in Clinical Heart Failure.

Journal Article J Am Heart Assoc · July 29, 2016 BACKGROUND: Metabolic impairment is an important contributor to heart failure (HF) pathogenesis and progression. Dysregulated metabolic pathways remain poorly characterized in patients with HF and preserved ejection fraction (HFpEF). We sought to determine ... Full text Open Access Link to item Cite

Aortic valve surgery and survival in patients with moderate or severe aortic stenosis and left ventricular dysfunction.

Journal Article Eur Heart J · July 21, 2016 AIMS: We aimed to determine the frequency of aortic valve surgery (AVR) with or without coronary artery bypass grafting (CABG), among patients with moderate/severe aortic stenosis (AS) and left ventricular systolic dysfunction (LVSD), and its relationship ... Full text Link to item Cite

Sex Differences in Functional and CT Angiography Testing in Patients With Suspected Coronary Artery Disease.

Journal Article J Am Coll Cardiol · June 7, 2016 BACKGROUND: Although risk stratification is an important goal of cardiac noninvasive tests (NITs), few contemporary data exist on the prognostic value of different NITs according to patient sex. OBJECTIVES: The goal of this study was to compare the results ... Full text Link to item Cite

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.

Journal Article N Engl J Med · June 2, 2016 BACKGROUND: Several sequence variants are known to have effects on serum levels of non-high-density lipoprotein (HDL) cholesterol that alter the risk of coronary artery disease. METHODS: We sequenced the genomes of 2636 Icelanders and found variants that w ... Full text Link to item Cite

Metabolic Dysfunction in Heart Failure: Diagnostic, Prognostic, and Pathophysiologic Insights From Metabolomic Profiling.

Journal Article Curr Heart Fail Rep · June 2016 Metabolic impairment is an intrinsic component of heart failure (HF) pathophysiology. Although initially conceived as a myocardial defect, metabolic dysfunction is now recognized as a systemic process with complex interplay between the myocardium and perip ... Full text Link to item Cite

Catabolic Defect of Branched-Chain Amino Acids Promotes Heart Failure.

Journal Article Circulation · May 24, 2016 BACKGROUND: Although metabolic reprogramming is critical in the pathogenesis of heart failure, studies to date have focused principally on fatty acid and glucose metabolism. Contribution of amino acid metabolic regulation in the disease remains understudie ... Full text Link to item Cite

Sex Differences in Demographics, Risk Factors, Presentation, and Noninvasive Testing in Stable Outpatients With Suspected Coronary Artery Disease: Insights From the PROMISE Trial.

Journal Article JACC Cardiovasc Imaging · April 2016 OBJECTIVES: The aim of this study was to determine whether presentation, risk assessment, testing choices, and results differ by sex in stable symptomatic outpatients with suspected coronary artery disease (CAD). BACKGROUND: Although established CAD presen ... Full text Link to item Cite

Association of standard clinical and laboratory variables with red blood cell distribution width.

Journal Article Am Heart J · April 2016 BACKGROUND: Red blood cell distribution width (RDW) strongly predicts clinical outcomes among patients with coronary disease and heart failure. The factors underpinning this association are unknown. METHODS: In 6,447 individuals enrolled in the Measurement ... Full text Link to item Cite

Pharmacogenetics of Clopidogrel: An Unresolved Issue.

Journal Article Circ Cardiovasc Genet · April 2016 Full text Link to item Cite

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Journal Article N Engl J Med · March 24, 2016 BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 h ... Full text Link to item Cite

High-density lipoprotein subclass measurements improve mortality risk prediction, discrimination and reclassification in a cardiac catheterization cohort.

Journal Article Atherosclerosis · March 2016 BACKGROUND AND AIMS: Recent failures of HDL cholesterol (HDL-C)-raising therapies to prevent cardiovascular disease (CVD) events have tempered the interest in the role of HDL-C in clinical risk assessment. Emerging data suggest that the atheroprotective pr ... Full text Link to item Cite

Prognostic Implications of Long-Chain Acylcarnitines in Heart Failure and Reversibility With Mechanical Circulatory Support.

Journal Article J Am Coll Cardiol · January 26, 2016 BACKGROUND: Heart failure (HF) is characterized by perturbations in energy homeostasis and metabolism. The reversibility and prognostic value of circulating markers associated with these changes remain unclear. OBJECTIVES: This study sought to describe the ... Full text Link to item Cite

Opportunities for the Cardiovascular Community in the Precision Medicine Initiative.

Journal Article Circulation · January 12, 2016 The Precision Medicine Initiative recently announced by President Barack Obama seeks to move the field of precision medicine more rapidly into clinical care. Precision medicine revolves around the concept of integrating individual-level data including geno ... Full text Link to item Cite

Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

Journal Article PLoS One · 2016 There is a growing literature indicating that genetic variants modify many of the associations between environmental exposures and clinical outcomes, potentially by increasing susceptibility to these exposures. However, genome-scale investigations of these ... Full text Link to item Cite

Case-Only Survival Analysis Reveals Unique Effects of Genotype, Sex, and Coronary Disease Severity on Survivorship.

Journal Article PLoS One · 2016 Survival bias may unduly impact genetic association with complex diseases; gene-specific survival effects may further complicate such investigations. Coronary artery disease (CAD) is a complex phenotype for which little is understood about gene-specific su ... Full text Link to item Cite

A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.

Journal Article J Cardiovasc Transl Res · November 2015 The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterizat ... Full text Link to item Cite

Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.

Journal Article PLoS Genet · November 2015 Levels of certain circulating short-chain dicarboxylacylcarnitine (SCDA), long-chain dicarboxylacylcarnitine (LCDA) and medium chain acylcarnitine (MCA) metabolites are heritable and predict cardiovascular disease (CVD) events. Little is known about the bi ... Full text Open Access Link to item Cite

Association of Roadway Proximity with Fasting Plasma Glucose and Metabolic Risk Factors for Cardiovascular Disease in a Cross-Sectional Study of Cardiac Catheterization Patients.

Journal Article Environ Health Perspect · October 2015 BACKGROUND: The relationship between traffic-related air pollution (TRAP) and risk factors for cardiovascular disease needs to be better understood in order to address the adverse impact of air pollution on human health. OBJECTIVE: We examined associations ... Full text Link to item Cite

Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

Journal Article Kidney international · October 2015 Acute kidney injury (AKI) is a common, serious complication of cardiac surgery. Since prior studies have supported a genetic basis for postoperative AKI, we conducted a genome-wide association study (GWAS) for AKI following coronary bypass graft (CABG) sur ... Full text Open Access Cite

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

Journal Article Nat Genet · October 2015 Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association study (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analy ... Full text Link to item Cite

ADAM12: a genetic modifier of preclinical peripheral arterial disease.

Journal Article Am J Physiol Heart Circ Physiol · September 2015 In prior studies from multiple groups, outcomes following experimental peripheral arterial disease (PAD) differed considerably across inbred mouse strains. Similarly, in humans with PAD, disease outcomes differ, even when there are similarities in risk fac ... Full text Link to item Cite

Computing a Synthetic Chronic Psychosocial Stress Measurement in Multiple Datasets and its Application in the Replication of G × E Interactions of the EBF1 Gene.

Journal Article Genet Epidemiol · September 2015 Chronic psychosocial stress adversely affects health and is associated with the development of disease [Williams, 2008]. Systematic epidemiological and genetic studies are needed to uncover genetic variants that interact with stress to modify metabolic res ... Full text Link to item Cite

Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery.

Journal Article American heart journal · September 2015 BackgroundPostoperative atrial fibrillation (AF) is a potentially life-threatening complication after coronary artery bypass graft (CABG) surgery. Genetic predisposition may predict risk for developing postoperative AF.MethodsStudy subjec ... Full text Cite

Use of outcome measures in pulmonary hypertension clinical trials.

Journal Article Am Heart J · September 2015 OBJECTIVES: To evaluate the use of surrogate measures in pulmonary hypertension (PH) clinical trials and how it relates to clinical practice. BACKGROUND: Studies of pulmonary arterial hypertension (PAH) employ a variety of surrogate measures in addition to ... Full text Link to item Cite

Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves.

Journal Article Heart Surg Forum · August 30, 2015 BACKGROUND:   Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized.  We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patien ... Full text Link to item Cite

Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease.

Journal Article Arterioscler Thromb Vasc Biol · July 2015 OBJECTIVE: Genome-wide association studies have identified multiple genetic variants affecting the risk of coronary artery disease (CAD). However, individually these explain only a small fraction of the heritability of CAD and for most, the causal biologic ... Full text Link to item Cite

Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.

Journal Article Eur J Hum Genet · June 2015 We performed gene-environment interaction genome-wide association analysis (G × E GWAS) to identify SNPs whose effects on metabolic traits are modified by chronic psychosocial stress in the Multi-Ethnic Study of Atherosclerosis (MESA). In Whites, the G × E ... Full text Open Access Link to item Cite

Genetically determined height and coronary artery disease.

Journal Article N Engl J Med · April 23, 2015 BACKGROUND: The nature and underlying mechanisms of an inverse association between adult height and the risk of coronary artery disease (CAD) are unclear. METHODS: We used a genetic approach to investigate the association between height and CAD, using 180 ... Full text Link to item Cite

Integrated metabolomics and genomics: systems approaches to biomarkers and mechanisms of cardiovascular disease.

Journal Article Circ Cardiovasc Genet · April 2015 The genetic architecture underlying the heritability of cardiovascular disease is incompletely understood. Metabolomics is an emerging technology platform that has shown early success in identifying biomarkers and mechanisms of common chronic diseases. Int ... Full text Link to item Cite

Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.

Journal Article Heart Surg Forum · February 27, 2015 BACKGROUND: Vein graft stenosis after coronary artery bypass grafting (CABG) is common. Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypoth ... Full text Link to item Cite

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Journal Article Nature · February 5, 2015 Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance. When MI occurs early in life, genetic inheritance is a major component to risk. Previously, rare mutations in low-density lipoprotein (LDL) ge ... Full text Link to item Cite

Simultaneous consideration of multiple candidate protein biomarkers for long-term risk for cardiovascular events.

Journal Article Circ Cardiovasc Genet · February 2015 BACKGROUND: Although individual protein biomarkers are associated with cardiovascular risk, rarely have multiple proteins been considered simultaneously to identify which set of proteins best predicts risk. METHODS AND RESULTS: In a nested case-control stu ... Full text Link to item Cite

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Journal Article Hum Mol Genet · January 15, 2015 C-reactive protein (CRP) concentration is a heritable systemic marker of inflammation that is associated with cardiovascular disease risk. Genome-wide association studies have identified CRP-associated common variants associated in ∼25 genes. Our aims were ... Full text Link to item Cite

Effects of left ventricular assist device support on biomarkers of cardiovascular stress, fibrosis, fluid homeostasis, inflammation, and renal injury.

Journal Article JACC Heart Fail · January 2015 OBJECTIVES: The purpose of this study was to examine changes in a broad panel of biomarkers following left ventricular assist device (LVAD) support in advanced heart failure (HF). BACKGROUND: LVAD therapy mechanically unloads the failing heart and may resu ... Full text Link to item Cite

SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization.

Journal Article Pharmacogenomics · 2015 AIM: SLCO1B1 variants are associated with intermediate outcomes that may increase risk of death/myocardial infarction (MI) in statin-treated patients. PATIENTS & METHODS: In high-risk Caucasians undergoing cardiac catheterization, we tested the association ... Full text Link to item Cite

G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers.

Other Circulation. Cardiovascular genetics · October 2014 BackgroundWe hypothesized that genetic variations in the adrenergic signaling pathway and cytochrome P450 2D6 enzyme are associated with new-onset atrial fibrillation (AF) in patients who underwent coronary artery bypass grafting and were treated ... Full text Cite

Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease.

Journal Article PLoS Genet · July 2014 The majority of the heritability of coronary artery disease (CAD) remains unexplained, despite recent successes of genome-wide association studies (GWAS) in identifying novel susceptibility loci. Integrating functional genomic data from a variety of source ... Full text Link to item Cite

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Journal Article PLoS Genet · July 2014 Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant gen ... Full text Link to item Cite

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Journal Article Am J Hum Genet · February 6, 2014 Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development o ... Full text Link to item Cite

Validation of the association between a branched chain amino acid metabolite profile and extremes of coronary artery disease in patients referred for cardiac catheterization.

Journal Article Atherosclerosis · January 2014 OBJECTIVE: To validate independent associations between branched-chain amino acids (BCAA) and other metabolites with coronary artery disease (CAD). METHODS: We conducted mass-spectrometry-based profiling of 63 metabolites in fasting plasma from 1983 sequen ... Full text Link to item Cite

Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

Journal Article Hum Mol Genet · December 20, 2013 Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethyla ... Full text Link to item Cite

Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort.

Journal Article Hum Genet · December 2013 We performed a gene-smoking interaction analysis using families from an early-onset coronary artery disease cohort (GENECARD). This analysis was focused on validating and expanding results from previous studies implicating single nucleotide polymorphisms ( ... Full text Link to item Cite

Race and sex differences in small-molecule metabolites and metabolic hormones in overweight and obese adults.

Journal Article OMICS · December 2013 In overweight/obese individuals, cardiometabolic risk factors differ by race and sex categories. Small-molecule metabolites and metabolic hormone levels might also differ across these categories and contribute to risk factor heterogeneity. To explore this ... Full text Link to item Cite

Hemostasis and Thrombosis

Journal Article · August 29, 2013 Full text Cite

Branched chain amino acids are novel biomarkers for discrimination of metabolic wellness.

Journal Article Metabolism · July 2013 OBJECTIVE: To identify novel biomarkers through metabolomic profiles that distinguish metabolically well (MW) from metabolically unwell (MUW) individuals, independent of body mass index (BMI). MATERIALS/METHODS: This study was conducted as part of the Meas ... Full text Link to item Cite

Risk factors for 1-year mortality after thoracic endovascular aortic repair.

Journal Article J Thorac Cardiovasc Surg · May 2013 OBJECTIVE: Thoracic endovascular aortic repair, although physiologically well tolerated, may fail to confer significant survival benefit in some high-risk patients. In an effort to identify patients most likely to benefit from intervention, the present stu ... Full text Link to item Cite

Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis.

Journal Article J Am Coll Cardiol · March 5, 2013 OBJECTIVES: This study sought to ascertain the relationship of 9p21 locus with: 1) angiographic coronary artery disease (CAD) burden; and 2) myocardial infarction (MI) in individuals with underlying CAD. BACKGROUND: Chromosome 9p21 variants have been robus ... Full text Link to item Cite

A functional polymorphism in the 5HTR2C gene associated with stress responses also predicts incident cardiovascular events.

Journal Article PLoS One · 2013 Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress recall task, and with endophenotypes ... Full text Open Access Link to item Cite

Large-scale association analysis identifies new risk loci for coronary artery disease.

Journal Article Nat Genet · January 2013 Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, a ... Full text Link to item Cite

Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family.

Journal Article PLoS One · 2013 Given the importance of cardiovascular disease (CVD) to public health and the demonstrated heritability of both disease status and its related risk factors, identifying the genetic variation underlying these susceptibilities is a critical step in understan ... Full text Open Access Link to item Cite

Effect of cinacalcet on cardiovascular disease in patients undergoing dialysis.

Journal Article N Engl J Med · December 27, 2012 BACKGROUND: Disorders of mineral metabolism, including secondary hyperparathyroidism, are thought to contribute to extraskeletal (including vascular) calcification among patients with chronic kidney disease. It has been hypothesized that treatment with the ... Full text Link to item Cite

Hemostasis and Thrombosis

Chapter · November 15, 2012 Full text Cite

Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse.

Journal Article Obstet Gynecol · September 2012 OBJECTIVE: Matrix metalloproteinase-9 (MMP9) is a protease associated with degradation of collagen and elastin. Because increased MMP9 activity in vaginal tissue has been associated with pelvic organ prolapse (POP), we sought to comprehensively estimate MM ... Full text Link to item Cite

Translational platelet research in patients with coronary artery disease: what are the major knowledge gaps?

Journal Article Thromb Haemost · July 2012 Translational platelet function investigations performed in the percutaneous coronary intervention (PCI)-treated population receiving clopidogrel have identified high platelet reactivity to ADP (HPR) as a major risk factor for both acute as well as long-te ... Full text Link to item Cite

Comprehensive analysis of LAMC1 genetic variants in advanced pelvic organ prolapse.

Journal Article Am J Obstet Gynecol · May 2012 OBJECTIVE: We sought to comprehensively evaluate the association of laminin gamma-1 (LAMC1) and advance pelvic organ prolapse. STUDY DESIGN: We conducted a candidate gene association of patients (n = 239) with stages III-IV prolapse and controls (n = 197) ... Full text Link to item Cite

Baseline metabolomic profiles predict cardiovascular events in patients at risk for coronary artery disease.

Journal Article Am Heart J · May 2012 BACKGROUND: Cardiovascular risk models remain incomplete. Small-molecule metabolites may reflect underlying disease and, as such, serve as novel biomarkers of cardiovascular risk. METHODS: We studied 2,023 consecutive patients undergoing cardiac catheteriz ... Full text Link to item Cite

Metabolic profiles predict adverse events after coronary artery bypass grafting.

Journal Article J Thorac Cardiovasc Surg · April 2012 OBJECTIVE: Clinical models incompletely predict the outcomes after coronary artery bypass grafting. Novel molecular technologies can identify biomarkers to improve risk stratification. We examined whether metabolic profiles can predict adverse events in pa ... Full text Link to item Cite

A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.

Journal Article Circ Cardiovasc Genet · April 1, 2012 BACKGROUND: Recent genome-wide association studies (GWAS) have identified several novel loci that reproducibly associate with coronary artery disease (CAD) and/or myocardial infarction risk. However, known common CAD risk variants explain only 10% of the p ... Full text Link to item Cite

Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5.

Journal Article BMC Genet · February 27, 2012 BACKGROUND: Coronary artery disease (CAD), and one of its intermediate risk factors, dyslipidemia, possess a demonstrable genetic component, although the genetic architecture is incompletely defined. We previously reported a linkage peak on chromosome 5q31 ... Full text Link to item Cite

Branched-chain amino acid levels are associated with improvement in insulin resistance with weight loss.

Journal Article Diabetologia · February 2012 AIMS/HYPOTHESIS: Insulin resistance (IR) improves with weight loss, but this response is heterogeneous. We hypothesised that metabolomic profiling would identify biomarkers predicting changes in IR with weight loss. METHODS: Targeted mass spectrometry-base ... Full text Link to item Cite

Characterizing the phenotype of advanced pelvic organ prolapse.

Journal Article Female Pelvic Med Reconstr Surg · 2012 OBJECTIVE: Genetic studies require a clearly defined phenotype to reach valid conclusions. Our aim was to characterize the phenotype of advanced prolapse by comparing women with stage III to IV prolapse with controls without prolapse. METHODS: Based on the ... Full text Link to item Cite

Predictors of mortality in patients with chronic kidney disease and an implantable defibrillator: an EPGEN substudy.

Journal Article Europace · December 2011 AIMS: Chronic kidney disease (CKD) is increasingly prevalent, and is an independent risk factor for cardiovascular mortality. Clinical trials of the implantable cardioverter-defibrillator (ICD) have demonstrated a survival benefit over medical therapy for ... Full text Link to item Cite

Effect of heparin administration on metabolomic profiles in samples obtained during cardiac catheterization.

Journal Article Circ Cardiovasc Genet · December 2011 BACKGROUND: Metabolic profiling holds promise for early detection of coronary artery disease and assessing risk for ischemic events. Heparin is frequently administered (1) to treat acute coronary syndromes; and (2) during routine cardiac catheterization pr ... Full text Link to item Cite

Red cell distribution width, C-reactive protein, the complete blood count, and mortality in patients with coronary disease and a normal comparison population.

Journal Article Clin Chim Acta · November 20, 2011 BACKGROUND: Red cell distribution width (RDW) is associated with morbidity and mortality in coronary artery disease (CAD), but the connection of RDW with chronic inflammation is equivocal. METHODS: In 1,489 patients with CAD and 8.4-15.2 years of follow-up ... Full text Link to item Cite

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Journal Article PLoS Genet · September 2011 Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis ... Full text Link to item Cite

Polymorphisms associated with in vitro aspirin resistance are not associated with clinical outcomes in patients with coronary artery disease who report regular aspirin use.

Journal Article Am Heart J · July 2011 BACKGROUND: We hypothesized that single-nucleotide polymorphisms (SNPs) associated with heightened in vitro platelet function during aspirin exposure (which we define as "laboratory aspirin resistance") would be associated with greater risk for death, myoc ... Full text Link to item Cite

Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease.

Journal Article Hum Genet · June 2011 Tenascin-C (TNC) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression, including smooth muscle cell migration and proliferation. Previously, we observed differential expressi ... Full text Link to item Cite

Branching out for detection of type 2 diabetes.

Journal Article Cell Metab · May 4, 2011 Type 2 diabetes is an epidemic disease worldwide, but it is difficult to predict its appearance in the general population. A recent study demonstrates that circulating concentrations of a small group of essential amino acids predict risk for diabetes, cont ... Full text Link to item Cite

Differential metabolic impact of gastric bypass surgery versus dietary intervention in obese diabetic subjects despite identical weight loss.

Journal Article Sci Transl Med · April 27, 2011 Glycemic control is improved more after gastric bypass surgery (GBP) than after equivalent diet-induced weight loss in patients with morbid obesity and type 2 diabetes mellitus. We applied metabolomic profiling to understand the mechanisms of this better m ... Full text Link to item Cite

The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.

Journal Article Circ Cardiovasc Genet · April 2011 BACKGROUND: Risk-stratifying heart failure patients for primary prevention implantable cardioverter-defibrillators (ICDs) remains a challenge, especially for blacks, who have an increased incidence of sudden cardiac death but have been underrepresented in ... Full text Link to item Cite

Exploration of a hypothesized independent association of a common 9p21.3 gene variant and ischemic stroke in patients with and without angiographic coronary artery disease.

Journal Article Cerebrovasc Dis · 2011 BACKGROUND: Single-nucleotide polymorphisms (SNPs) at the chromosome 9p21.3 locus are associated with coronary artery disease (CAD). An association of this genomic region with ischemic stroke independent of its effect on CAD could suggest an additional, st ... Full text Link to item Cite

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.

Journal Article J Am Coll Cardiol · November 2, 2010 OBJECTIVES: We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). BACKGROUND: Recent prospective studies suggest that carriers of the 719Arg allele in ... Full text Link to item Cite

Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial.

Journal Article Lancet · October 16, 2010 BACKGROUND: In the PLATO trial of ticagrelor versus clopidogrel for treatment of acute coronary syndromes, ticagrelor reduced the composite outcome of cardiovascular death, myocardial infarction, and stroke, but increased events of major bleeding related t ... Full text Link to item Cite

Reclassification of cardiovascular risk using integrated clinical and molecular biosignatures: Design of and rationale for the Measurement to Understand the Reclassification of Disease of Cabarrus and Kannapolis (MURDOCK) Horizon 1 Cardiovascular Disease Study.

Journal Article Am Heart J · September 2010 BACKGROUND: Clinical predictive models leave gaps in our ability to stratify cardiovascular risk. High-throughput molecular profiling promises to improve risk classification. METHODS: Horizon 1 of the Measurement to Understand the Reclassification of Disea ... Full text Link to item Cite

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

Journal Article Nat Genet · August 2010 We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A al ... Full text Link to item Cite

Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.

Journal Article Hum Mol Genet · July 15, 2010 Aging is believed to be among the most important contributors to atherosclerosis, through mechanisms that remain largely obscure. Serum levels of tumor necrosis factor (TNF) rise with aging and have been correlated with the incidence of myocardial infarcti ... Full text Link to item Cite

Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events.

Journal Article Circ Cardiovasc Genet · April 2010 BACKGROUND: Molecular tools may provide insight into cardiovascular risk. We assessed whether metabolites discriminate coronary artery disease (CAD) and predict risk of cardiovascular events. METHODS AND RESULTS: We performed mass-spectrometry-based profil ... Full text Open Access Link to item Cite

Insulin resistance is associated with a metabolic profile of altered protein metabolism in Chinese and Asian-Indian men.

Journal Article Diabetologia · April 2010 AIMS/HYPOTHESIS: Insulin resistance (IR) is associated with obesity, but can also develop in individuals with normal body weight. We employed comprehensive profiling methods to identify metabolic events associated with IR, while controlling for obesity. ME ... Full text Link to item Cite

Biomarker bonanza?

Journal Article J Am Coll Cardiol · March 23, 2010 Full text Link to item Cite

Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

Journal Article Arthritis Rheum · March 2010 OBJECTIVE: The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify gene ... Full text Link to item Cite

Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.

Journal Article Ann Hum Genet · November 2009 The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (S ... Full text Link to item Cite

Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository.

Journal Article Am Heart J · November 2009 BACKGROUND: Disturbances in cardiac rhythm can lead to significant morbidity and mortality. Many arrhythmias are known to have a heritable component, but the degree to which genetic variation contributes to disease risk and morbidity is poorly understood. ... Full text Link to item Cite

The SLCO1B1*5 genetic variant is associated with statin-induced side effects.

Journal Article J Am Coll Cardiol · October 20, 2009 OBJECTIVES: We sought to identify single nucleotide polymorphisms associated with mild statin-induced side effects. BACKGROUND: Statin-induced side effects can interfere with therapy. Single nucleotide polymorphisms in cytochrome P450 enzymes impair statin ... Full text Link to item Cite

Relationships between circulating metabolic intermediates and insulin action in overweight to obese, inactive men and women.

Journal Article Diabetes Care · September 2009 OBJECTIVE: To determine whether circulating metabolic intermediates are related to insulin resistance and beta-cell dysfunction in individuals at risk for type 2 diabetes. RESEARCH DESIGN AND METHODS: In 73 sedentary, overweight to obese, dyslipidemic indi ... Full text Link to item Cite

Coagulopathy and Stroke

Journal Article · April 8, 2009 Full text Cite

Genetics of cardiac repolarization.

Journal Article Nat Genet · April 2009 Prolongation of the electrocardiographic QT interval, a measure of cardiac repolarization, is associated with arrhythmogenic disorders and is a risk factor for sudden cardiac death. Two genome-wide association studies (GWAS) of variation in the QT interval ... Full text Link to item Cite

A branched-chain amino acid-related metabolic signature that differentiates obese and lean humans and contributes to insulin resistance.

Journal Article Cell Metab · April 2009 Metabolomic profiling of obese versus lean humans reveals a branched-chain amino acid (BCAA)-related metabolite signature that is suggestive of increased catabolism of BCAA and correlated with insulin resistance. To test its impact on metabolic homeostasis ... Full text Link to item Cite

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.

Journal Article Hum Genet · March 2009 Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties and their involvement with a number of human diseases, most particularly asthma. Recently, leukotriene-based inflammation has also been shown to play an important ro ... Full text Link to item Cite

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

Journal Article Nat Genet · March 2009 Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence ... Full text Link to item Cite

High heritability of metabolomic profiles in families burdened with premature cardiovascular disease.

Journal Article Mol Syst Biol · 2009 Integration of genetic and metabolic profiling holds promise for providing insight into human disease. Coronary artery disease (CAD) is strongly heritable, but the heritability of metabolomic profiles has not been evaluated in humans. We performed quantita ... Full text Link to item Cite

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

Journal Article PLoS Genet · January 2009 Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in ... Full text Open Access Link to item Cite

Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels.

Journal Article Arthritis Rheum · December 2008 OBJECTIVE: Extensive joint hypermobility, lower serum cartilage oligomeric matrix protein (COMP) levels, and early-onset osteoarthritis (OA) are phenotypes of inherited pseudoachondroplasia and multiple epiphyseal dysplasia. However, few studies have evalu ... Full text Link to item Cite

Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response.

Journal Article Circ Cardiovasc Genet · December 2008 BACKGROUND: There is interindividual variation in low-density lipoprotein cholesterol (LDLc) lowering by statins and limited study into the genetic associations of the dose dependant LDLc lowering by statins. METHODS AND RESULTS: Five hundred nine patients ... Full text Link to item Cite

ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention.

Journal Article Atherosclerosis · November 2008 BACKGROUND: Use of drug-eluting stents (DES) has reduced in-stent restenosis after percutaneous coronary intervention (PCI); however, DES are associated with late stent thrombosis. There is no accurate way to predict in-stent restenosis, although risk fact ... Full text Link to item Cite

Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study.

Journal Article Osteoarthritis Cartilage · September 2008 OBJECTIVE: To evaluate biological markers as potential quantitative traits of clinical osteoarthritis (OA) in a large multigenerational family in the Carolinas of the USA known as the CARRIAGE (CARolinas Region Interaction of Aging, Genes and Environment) ... Full text Link to item Cite

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease.

Journal Article Ann Hum Genet · July 2008 Previous association mapping on chromosome 3q13-21 detected evidence for association at the limbic system-associated membrane protein (LSAMP) gene in individuals with late-onset coronary artery disease (CAD). LSAMP has never been implicated in the pathogen ... Full text Link to item Cite

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.

Journal Article Hum Mol Genet · May 1, 2008 Platelet-activating factor acetylhydrolase (PLA2G7) is a potent pro- and anti-inflammatory molecule that has been implicated in multiple inflammatory disease processes, including cardiovascular disease. The goal of this study was to investigate the genetic ... Full text Link to item Cite

Genetic and functional association of FAM5C with myocardial infarction.

Journal Article BMC Med Genet · April 22, 2008 BACKGROUND: We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). When the data are stratified by acute ... Full text Link to item Cite

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.

Journal Article Nat Genet · February 2008 Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD) and type 2 diabetes (T2D), respectively. We proceeded to further investigate the contributions of the ... Full text Link to item Cite

Closing the gap: treating hypertension in women.

Journal Article Cardiol Rev · 2008 Hypertension is a common and readily modifiable risk factor for cardiovascular and cerebrovascular disease. Despite extensive clinical trial results and efforts to increase public awareness, it remains inadequately controlled in the general population. Wom ... Full text Link to item Cite

Training cardiovascular specialists in imaging: a curriculum based on fundamental concepts required for multimodal imaging.

Journal Article Am Heart J · November 2007 BACKGROUND: Training cardiovascular (CV) imaging specialists is becoming increasingly complex owing to rapidly emerging technological advances and the growing recognition that single modality training is inefficient and results in suboptimal education and ... Full text Link to item Cite

Taking cardiovascular genetic association studies to the next level.

Journal Article J Am Coll Cardiol · September 4, 2007 Genetic information is beginning to have a direct impact on patient care and it is important that cardiologists appreciate the value and approaches to associating genetic variation and health outcomes. Genetic associations should be based on compelling gen ... Full text Link to item Cite

A common variant on chromosome 9p21 affects the risk of myocardial infarction

Journal Article Obstetrical and Gynecological Survey · September 1, 2007 Full text Cite

Gene polymorphisms and susceptibility to coronary artery disease.

Journal Article Pediatr Blood Cancer · June 15, 2007 As pediatric cancer survivors age, long-term cardiovascular complications related to chemotherapeutic toxicities, as well as development of premature coronary artery disease (CAD) from radiation and increased prevalence of CAD risk factors such as obesity, ... Full text Link to item Cite

A common variant on chromosome 9p21 affects the risk of myocardial infarction.

Journal Article Science · June 8, 2007 The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases ... Full text Link to item Cite

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.

Journal Article Am J Hum Genet · April 2007 A susceptibility locus for coronary artery disease (CAD) has been mapped to chromosome 3q13-21 in a linkage study of early-onset CAD. We completed an association-mapping study across the 1-LOD-unit-down supporting interval, using two independent white case ... Full text Link to item Cite

Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.

Journal Article Ann Hum Genet · November 2006 Coronary artery disease (CAD) and dyslipidemia have strong genetic components. Heterogeneity complicates evaluating genetics of complex diseases such as CAD; incorporating disease-related phenotypes may help reduce heterogeneity. We hypothesized that incor ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS Genet · August 25, 2006 The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS genetics · August 25, 2006 The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Cite

Influence of gender on outcomes after intra-arterial thrombolysis for acute ischemic stroke

Journal Article Neurology · 2006 Recent data suggest that women obtain greater benefit than men from IV fibrinolysis for acute ischemic stroke. It is unknown whether this gender-thrombolysis advantage extends to those treated with intra-arterial (IA) thrombolysis. The authors evaluated th ... Full text Cite

Searching for epistatic interactions in nuclear families using conditional linkage analysis.

Journal Article BMC Genet · December 30, 2005 BACKGROUND: Genomic screens generally employ a single-locus strategy for linkage analysis, but this may have low power in the presence of epistasis. Ordered subsets analysis (OSA) is a method for conditional linkage analysis using continuous covariates. ME ... Full text Link to item Cite

Prevalence and management of hypertension in acute coronary syndrome patients varies by sex: observations from the Sibrafiban versus aspirin to Yield Maximum Protection from ischemic Heart events postacute cOroNary sYndromes (SYMPHONY) randomized clinical trials.

Journal Article Am Heart J · December 2005 BACKGROUND: Hypertension affects 1 billion individuals worldwide and is an independent risk factor for death after acute coronary syndromes (ACS). METHODS: We examined the prevalence and medical treatment of hypertension among 15,904 ACS patients randomize ... Full text Link to item Cite

Postmenopausal hormone use in women with acute coronary syndromes.

Journal Article J Womens Health (Larchmt) · October 2004 BACKGROUND: Recent trials reveal no benefit and possible harm from chronic hormone replacement therapy (HRT). Less is known about intermediate-term outcomes associated with HRT use in the setting of acute coronary syndromes (ACS). METHODS: To examine the p ... Full text Link to item Cite

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

Journal Article Am J Hum Genet · September 2004 A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic fa ... Full text Link to item Cite

PCI in women

Journal Article Cardiology Review · March 1, 2003 Studies have shown that women and men have similar rates of procedural success with percutaneous coronary intervention (PCI), but that women have significantly higher mortality rates. The authors examine why this occurs and compare the risks of PCI with th ... Cite

C-reactive protein: a novel marker of cardiovascular risk.

Journal Article Cardiol Rev · 2003 Patients without traditional cardiovascular risk factors continue to suffer from cardiovascular events, which has prompted a search for novel markers to better assess cardiovascular risk. Inflammatory biomarkers have surfaced as prime candidates, given the ... Full text Link to item Cite