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Deepak Voora

Professor of Medicine
Medicine, Cardiology
Duke Box 3382, Durham, NC 27710
101 Science Dr, 2187 CIEMAS, Campus Box 3382, Durham, NC 27708

Selected Publications


RUNX1 isoforms regulate RUNX1 and target genes differentially in platelets-megakaryocytes: association with clinical cardiovascular events.

Journal Article J Thromb Haemost · December 2024 BACKGROUND: Hematopoietic transcription factor RUNX1 is expressed from proximal P2 and distal P1 promoters to yield isoforms RUNX1 B and C, respectively. The roles of these isoforms in RUNX1 autoregulation and downstream gene regulation in megakaryocytes a ... Full text Link to item Cite

Association Between Lipoprotein(a) and Obstructive Coronary Artery Disease and High-Risk Plaque: Insights From the PROMISE Trial.

Journal Article Am J Cardiol · November 15, 2024 The role of lipoprotein (a) (Lp[a]) in the development of obstructive coronary artery disease (CAD) and high-risk plaque (HRP) in primary prevention patients with stable chest pain is unknown. We sought to evaluate the relation of Lp(a), independent of low ... Full text Link to item Cite

Inhibiting the P2Y<sub>12</sub> Receptor in Megakaryocytes and Platelets Suppresses Interferon-Associated Responses.

Journal Article JACC. Basic to translational science · September 2024 The authors investigated the impact of antiplatelet therapy on the megakaryocyte (MK) and platelet transcriptome. RNA-sequencing was performed on MKs treated with aspirin or P2Y12 inhibitor, platelets from healthy volunteers receiving aspirin or ... Full text Cite

A Platelet Reactivity ExpreSsion Score derived from patients with peripheral artery disease predicts cardiovascular risk.

Journal Article Nat Commun · August 20, 2024 Platelets are key mediators of atherothrombosis, yet, limited tools exist to identify individuals with a hyperreactive platelet phenotype. In this study, we investigate the association of platelet hyperreactivity and cardiovascular events, and introduce a ... Full text Link to item Cite

Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.

Journal Article Am J Health Syst Pharm · August 12, 2024 PURPOSE: Pharmacogenetic testing can identify patients who may benefit from personalized drug treatment. However, clinical uptake of pharmacogenetic testing has been limited. Clinical practice guidelines recommend biomarker tests that the guideline authors ... Full text Link to item Cite

Association of Pharmacogenomic Phenotypes in CYP2D6, CYP2C9, CYP2C19, and CYP3A5 on Polypharmacy in Veterans.

Journal Article Clin Pharmacol Ther · August 2024 The Department of Veterans Affairs (VA) utilizes a pharmacogenomic (PGx) program that analyzes specific "pharmacogenes." This study evaluates the effect that pharmacogenes may have on prevalence of polypharmacy. This retrospective cohort study included pat ... Full text Link to item Cite

Implementing a pragmatic clinical trial to tailor opioids for chronic pain on behalf of the IGNITE ADOPT PGx investigators.

Journal Article Clin Transl Sci · August 2024 Chronic pain is a prevalent condition with enormous economic burden. Opioids such as tramadol, codeine, and hydrocodone are commonly used to treat chronic pain; these drugs are activated to more potent opioid receptor agonists by the hepatic CYP2D6 enzyme. ... 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

Rationale and design for a pragmatic randomized trial to assess gene-based prescribing for SSRIs in the treatment of depression.

Journal Article Clin Transl Sci · June 2024 Specific selective serotonin reuptake inhibitors (SSRIs) metabolism is strongly influenced by two pharmacogenes, CYP2D6 and CYP2C19. However, the effectiveness of prospectively using pharmacogenetic variants to select or dose SSRIs for depression is uncert ... Full text Link to item Cite

LXR signaling pathways link cholesterol metabolism with risk for prediabetes and diabetes.

Journal Article J Clin Invest · May 15, 2024 BACKGROUNDPreclinical studies suggest that cholesterol accumulation leads to insulin resistance. We previously reported that alterations in a monocyte cholesterol metabolism transcriptional network (CMTN) - suggestive of cellular cholesterol accumulation - ... Full text Link to item Cite

Platelet RNA Biomarker of Ticagrelor-Responsive Genes Is Associated With Platelet Function and Cardiovascular Events.

Journal Article Arterioscler Thromb Vasc Biol · February 2024 BACKGROUND: Identifying patients with the optimal risk:benefit for ticagrelor is challenging. The aim was to identify ticagrelor-responsive platelet transcripts as biomarkers of platelet function and cardiovascular risk. METHODS: Healthy volunteers (n=58, ... Full text Link to item Cite

Workforce readiness for pharmacogenomics and key elements for sustainment within the Veterans Health Administration.

Journal Article Pharmacogenomics · February 2024 Aim: Understanding barriers and facilitators to pharmacogenomics (PGx) implementation and how to structure a clinical program with the Veterans Health Administration (VA). Materials & methods: Healthcare provider (HCP) survey at 20 VA facilities assessing ... Full text Open Access Link to item Cite

Providers' use of pharmacogenetic testing to inform opioid prescribing among veterans.

Journal Article Pharmacogenomics · 2024 Aim: To survey Veterans Health Administration providers who prescribed tramadol or codeine to patients with known genotyping for cytochrome 2D6 (CYP2D6) to ascertain awareness of their patient's pharmacogenetic (PGx) test status, whether these results infl ... Full text Link to item Cite

Pharmacogenetic testing and monitoring of complete blood counts among Veterans newly prescribed thiopurine treatments: a retrospective cohort study.

Journal Article J Pharm Policy Pract · December 11, 2023 Pharmacogenetic (PGx) testing before initiation of thiopurine treatment and CBC monitoring post-initiation helps avoid adverse events and ensure patient safety. This study aims to evaluate trends in PGx testing and CBC monitoring among Veterans prescribed ... Full text Link to item Cite

CYP2C19 Polymorphisms and Clinical Outcomes Following Percutaneous Coronary Intervention (PCI) in the Million Veterans Program.

Journal Article medRxiv · October 26, 2023 BACKGROUND: CYP2C19 loss-of-function (LOF) alleles decrease the antiplatelet effect of clopidogrel following percutaneous coronary intervention (PCI) in patients presenting with acute coronary syndrome (ACS). The impact of genotype in stable ischemic heart ... Full text Link to item Cite

Patient Perspectives of Barriers and Facilitators for the Uptake of Pharmacogenomic Testing in Veterans Affairs' Pharmacogenomic Testing for the Veterans (PHASER) Program.

Journal Article J Pers Med · September 9, 2023 We applied implementation science frameworks to identify barriers and facilitators to veterans' acceptance of pharmacogenomic testing (PGx), which was made available as a part of clinical care at 25 VA medical centers. We conducted 30 min interviews with v ... Full text Link to item Cite

Veterans Health Administration: Implementation of pharmacogenomic clinical decision support with statin medications and the SLCO1B1 gene as an exemplar.

Journal Article Am J Health Syst Pharm · August 4, 2023 PURPOSE: To describe the implementation of clinical decision support tools for alerting prescribers of actionable drug-gene interactions in the Veterans Health Administration (VHA). SUMMARY: Drug-gene interactions have been the focus of clinicians for year ... Full text Link to item Cite

An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers.

Journal Article Clin Pharmacol Ther · August 2023 Pharmacogenetics can improve clinical outcomes by reducing adverse drug effects and enhancing therapeutic efficacy for commonly used drugs that treat a wide range of cardiovascular diseases. One of the major barriers to the clinical implementation of cardi ... 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

Cost-effectiveness of CYP2C19-guided P2Y12 inhibitors in Veterans undergoing percutaneous coronary intervention for acute coronary syndromes.

Journal Article Eur Heart J Qual Care Clin Outcomes · April 26, 2023 AIMS: CYP2C19-guided P2Y12 inhibitor selection can reduce cardiovascular (CV) events and bleeding in patients with acute coronary syndromes (ACSs) post-percutaneous coronary intervention (PCI). The 12-month cost-effectiveness of CYP2C19-guided P2Y12 inhibi ... 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

Drug-drug-gene interaction risk among opioid users in the U.S. Department of Veterans Affairs.

Journal Article Pain · December 1, 2022 Response to analgesic therapy is influenced by several factors including genetics and drug-drug interactions. Pharmacogenetic (PGx) variants in the CYP2D6 gene modify response to opioids by altering drug metabolism. We sought to determine the potential imp ... Full text 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

Platelet inhibition by low-dose aspirin is not influenced by body mass or weight.

Journal Article Platelets · November 17, 2022 Aspirin's clinical efficacy may be influenced by body weight and mass. Although inadequate platelet inhibition by aspirin is suggested as responsible, evidence for this in non-diabetic patients is sparse. We investigated the influence of body weight and ma ... Full text Link to item 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

Implementing a pragmatic clinical trial to tailor opioids for acute pain on behalf of the IGNITE ADOPT PGx investigators.

Journal Article Clin Transl Sci · October 2022 Opioid prescribing for postoperative pain management is challenging because of inter-patient variability in opioid response and concern about opioid addiction. Tramadol, hydrocodone, and codeine depend on the cytochrome P450 2D6 (CYP2D6) enzyme for formati ... Full text Link to item Cite

Gene Expression Profiles of Treatment Response and Non-Response in Children With Juvenile Dermatomyositis.

Journal Article ACR Open Rheumatol · August 2022 OBJECTIVE: The study objective was to identify differences in gene expression between treatment responders (TRs) and treatment non-responders (TNRs) diagnosed with juvenile dermatomyositis (JDM). METHODS: Gene expression analyses were performed using whole ... Full text Link to item Cite

Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.

Journal Article JACC Cardiovasc Imaging · August 2022 BACKGROUND: Increased inflammation and myocardial injury can be observed in the absence of myocardial infarction or obstructive coronary artery disease (CAD). OBJECTIVES: The authors determined whether biomarkers of inflammation and myocardial injury-inter ... Full text Link to item Cite

Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial.

Journal Article JAMA · July 12, 2022 IMPORTANCE: Selecting effective antidepressants for the treatment of major depressive disorder (MDD) is an imprecise practice, with remission rates of about 30% at the initial treatment. OBJECTIVE: To determine whether pharmacogenomic testing affects antid ... Full text Link to item Cite

A precision medicine approach to stress testing using metabolomics and microribonucleic acids.

Journal Article Per Med · July 2022 Both transcriptomics and metabolomics hold promise for identifying acute coronary syndrome (ACS) but they have not been used in combination, nor have dynamic changes in levels been assessed as a diagnostic tool. We assessed integrated analysis of periphera ... Full text Link to item Cite

Aspirin effects on platelet gene expression are associated with a paradoxical, increase in platelet function.

Journal Article Br J Clin Pharmacol · May 2022 Aspirin has known effects beyond inhibiting platelet cyclooxygenase-1 (COX-1) that have been incompletely characterized. Transcriptomics can comprehensively characterize the on- and off-target effects of medications. We used a systems pharmacogenomics appr ... Full text Link to item Cite

SLCO1B1*5 Allele Is Associated With Atorvastatin Discontinuation and Adverse Muscle Symptoms in the Context of Routine Care.

Journal Article Clin Pharmacol Ther · May 2022 The SLCO1B1 genotype is known to influence patient adherence to statin therapy, in part by increasing the risk for statin-associated musculoskeletal symptoms (SAMSs). The SLCO1B1*5 allele has previously been associated with simvastatin discontinuation and ... Full text Link to item Cite

The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.

Journal Article Clin Pharmacol Ther · May 2022 Statins reduce cholesterol, prevent cardiovascular disease, and are among the most commonly prescribed medications in the world. Statin-associated musculoskeletal symptoms (SAMS) impact statin adherence and ultimately can impede the long-term effectiveness ... Full text Link to item Cite

Cost-Effectiveness of Tumor Genomic Profiling to Guide First-Line Targeted Therapy Selection in Patients With Metastatic Lung Adenocarcinoma.

Journal Article Value Health · April 2022 OBJECTIVES: A cost-effectiveness analysis comparing comprehensive genomic profiling (CGP) of 10 oncogenes, targeted gene panel testing (TGPT) of 4 oncogenes, and no tumor profiling over the lifetime for patients with metastatic lung adenocarcinoma from the ... 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

Evaluation of the Veterans Affairs Pharmacogenomic Testing for Veterans (PHASER) clinical program at initial test sites.

Journal Article Pharmacogenomics · November 2021 Aim: The first Plan-Do-Study-Act cycle for the Veterans Affairs Pharmacogenomic Testing for Veterans pharmacogenomic clinical testing program is described. Materials & methods: Surveys evaluating implementation resources and processes were distributed to i ... Full text Link to item Cite

United States Emergency Department Use of Medications with Pharmacogenetic Recommendations.

Journal Article West J Emerg Med · September 23, 2021 INTRODUCTION: Emergency departments (ED) use many medications with a range of therapeutic efficacy and potential significant side effects, and many medications have dosage adjustment recommendations based on the patient's specific genotype. How frequently ... Full text Open Access Link to item Cite

Platelets amplify endotheliopathy in COVID-19.

Journal Article Sci Adv · September 10, 2021 Given the evidence for a hyperactive platelet phenotype in COVID-19, we investigated effector cell properties of COVID-19 platelets on endothelial cells (ECs). Integration of EC and platelet RNA sequencing revealed that platelet-released factors in COVID-1 ... Full text Link to item Cite

Association of Hepatic Steatosis With Major Adverse Cardiovascular Events, Independent of Coronary Artery Disease.

Journal Article Clin Gastroenterol Hepatol · July 2021 BACKGROUND & AIMS: Hepatic steatosis has been associated with increased risk of major adverse cardiovascular events (MACE) but it is not clear whether steatosis is independently associated with risk of MACE. We investigated whether steatosis is associated ... Full text Link to item Cite

Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.

Journal Article Genet Med · July 2021 PURPOSE: A critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions. METHODS: The Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) ... Full text Open Access Link to item Cite

Platelet reactivity in response to aspirin and ticagrelor in African-Americans and European-Americans.

Journal Article J Thromb Thrombolysis · February 2021 Platelet gene polymorphisms are associated with variable on-treatment platelet reactivity and vary by race. Whether differences in platelet reactivity and aspirin or ticagrelor exist between African-American and European-Americans remains poorly understood ... Full text Link to item Cite

Veterans Affairs Pharmacogenomic Testing for Veterans (PHASER) clinical program.

Journal Article Pharmacogenomics · February 2021 In 2019, the Veterans Affairs (VA), the largest integrated US healthcare system, started the Pharmacogenomic Testing for Veterans (PHASER) clinical program that provides multi-gene pharmacogenomic (PGx) testing for up to 250,000 veterans at approximately 5 ... Full text Link to item Cite

North Carolina's multi-institutional pharmacogenomics efforts with the North Carolina Precision Health Collaborative.

Journal Article Pharmacogenomics · January 2021 The North Carolina Precision Health Collaborative is an interdisciplinary, public-private consortium of precision health experts who strategically align statewide resources and strengths to elevate precision health in the state and beyond. Pharmacogenomics ... Full text Link to item Cite

AN ANTITHROMBOTIC RESPONSE SIGNATURE SCORE IS A GENE EXPRESSION BIOMARKER OF BLEEDING RISK

Conference JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY · 2021 Cite

Delivery of Pharmacogenetic Testing with or without Medication Therapy Management in a Community Pharmacy Setting.

Journal Article Pharmgenomics Pers Med · 2021 OBJECTIVE: The delivery of pharmacogenetic (PGx) testing has primarily been through clinical and hospital settings. We conducted a study to explore the feasibility of delivering PGx testing through community pharmacies, a less-studied setting. METHODS: We ... Full text Link to item Cite

Independent Community Pharmacists' Experience in Offering Pharmacogenetic Testing.

Journal Article Pharmgenomics Pers Med · 2021 OBJECTIVE: This study assessed pharmacist experiences with delivering pharmacogenetic (PGx) testing in independent community pharmacies. METHODS: We conducted a cluster randomized trial of independent community pharmacies in North Carolina randomized to pr ... Full text Link to item Cite

Abstract 16710: CYP2C19 Polymorphisms and Clinical Outcomes Following Percutaneous Coronary Intervention (PCI) in the Million Veterans Program (MVP)

Conference Circulation · November 17, 2020 Introduction: CYP2C19 reduced function (RF) alleles (*2, *3) have been shown to impair clopidogrel effectiveness following percutaneous coronary intervention (PCI) in the setting of acute coronary syn ... Full text Cite

Abstract 14950: SLCO1B1 Genotype is Associated With Atorvastatin Discontinuation

Conference Circulation · November 17, 2020 Introduction: Atorvastatin is commonly prescribed to prevent cardiovascular disease; however, long-term adherence can be eroded by statin associated musculoskeletal symptoms (SAMS). Genetic variants i ... Full text Cite

Identifying End Users' Preferences about Structuring Pharmacogenetic Test Orders in an Electronic Health Record System.

Journal Article J Mol Diagn · October 2020 Pharmacogenetics (PGx) testing can be used for detecting genetic variations that may affect an individual's anticipated metabolism of, or response to, medications. Although several studies have focused on developing tools for delivering results from PGx te ... Full text Link to item Cite

Influence of Sex on Platelet Reactivity in Response to Aspirin.

Journal Article J Am Heart Assoc · July 21, 2020 Background There are sex differences in the efficacy and safety of aspirin for the prevention of myocardial infarction and stroke. Whether this is explained by underlying differences in platelet reactivity and aspirin response remains poorly understood. Me ... Full text Link to item Cite

Understanding the state of pharmacogenomic testing for thiopurine methyltransferase within a large health system.

Journal Article Pharmacogenomics · April 2020 Aim: To investigate the current state of TPMT testing at a single-academic medical center. Methods: Single-center, retrospective chart review for patients newly prescribed a thiopurine. Data collection and evaluation included the prevalence and timing of T ... Full text Link to item Cite

Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a Platelet SELP Splice QTL.

Journal Article Circ Res · February 14, 2020 RATIONALE: Longitudinal studies are required to distinguish within versus between-individual variation and repeatability of gene expression. They are uniquely positioned to decipher genetic signal from environmental noise, with potential application to gen ... Full text Link to item Cite

Cost-Effectiveness of Multigene Pharmacogenetic Testing in Patients With Acute Coronary Syndrome After Percutaneous Coronary Intervention.

Journal Article Value Health · January 2020 OBJECTIVE: To evaluate the cost-effectiveness of multigene testing (CYP2C19, SLCO1B1, CYP2C9, VKORC1) compared with single-gene testing (CYP2C19) and standard of care (no genotyping) in acute coronary syndrome (ACS) patients undergoing percutaneous coronar ... Full text Link to item Cite

Modeling statin myopathy in a human skeletal muscle microphysiological system.

Journal Article PLoS One · 2020 Statins are used to lower cholesterol and prevent cardiovascular disease. Musculoskeletal side effects known as statin associated musculoskeletal symptoms (SAMS), are reported in up to 10% of statin users, necessitating statin therapy interruption and incr ... Full text Link to item Cite

Effect of aspirin response signature gene expression on preterm birth and preeclampsia among women with lupus: a pilot study.

Journal Article Lupus · December 2019 BACKGROUND: Women with lupus have an increased risk of preeclampsia and preterm birth, and aspirin 81 mg/day is recommended as a preventative measure for preeclampsia. This pilot study quantified the association between a 60-gene aspirin response signature ... Full text Link to item Cite

Equilibrative nucleoside transporter 1 gene polymorphisms and clinical outcomes following acute coronary syndromes: findings from the PLATelet inhibition and patient Outcomes (PLATO) study.

Journal Article Platelets · 2019 In the PLATelet inhibition and patient Outcomes (PLATO) study, the P2Y12 inhibitors ticagrelor and clopidogrel were compared in the treatment of acute coronary syndromes (ACS). Ticagrelor was shown to reduce occurrence of the primary end point - a composit ... Full text Link to item 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

Effects of Delivering SLCO1B1 Pharmacogenetic Information in Randomized Trial and Observational Settings.

Journal Article Circ Genom Precis Med · September 2018 BACKGROUND: Outcomes of tailoring statin-type based on solute carrier organic anion transporterfamily member 1B1 ( SLCO1B1)pharmacogenetic toxicity information on patient, provider, and pharmacological outcomes are unknown. METHODS: The trial randomized 15 ... Full text Link to item Cite

Unraveling the Genetic Basis of Recurrent Venous Thromboembolism

Journal Article Circulation: Genomic and Precision Medicine · February 2018 Full text Cite

Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.

Journal Article JACC Cardiovasc Interv · January 22, 2018 OBJECTIVES: This multicenter pragmatic investigation assessed outcomes following clinical implementation of CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention (PCI). BACKGROUND: CYP2C19 loss-of-function alleles impair clo ... Full text Link to item Cite

Peripheral blood gene expression signatures which reflect smoking and aspirin exposure are associated with cardiovascular events.

Journal Article BMC Med Genomics · January 12, 2018 BACKGROUND: Cardiovascular disease and its sequelae are major causes of global mortality, and better methods are needed to identify patients at risk for future cardiovascular events. Gene expression analysis can inform on the molecular underpinnings of ris ... Full text Link to item Cite

Cardiovascular Pharmacogenetics

Chapter · January 1, 2018 This chapter will apply the principles and concepts introduced in the "Pharmacogenetics and Pharmacogenomics" chapter in volume 2, namely, discussion of four classes of genetic variants that underlie drug response to cardiovascular agents: (1) pharmacokine ... Full text Cite

Transcription Factor RUNX1 Regulates Platelet PCTP (Phosphatidylcholine Transfer Protein): Implications for Cardiovascular Events: Differential Effects of RUNX1 Variants.

Journal Article Circulation · September 5, 2017 BACKGROUND: PCTP (phosphatidylcholine transfer protein) regulates the intermembrane transfer of phosphatidylcholine. Higher platelet PCTP expression is associated with increased platelet responses on activation of protease-activated receptor 4 thrombin rec ... Full text Link to item Cite

The Expressed Genome in Cardiovascular Diseases and Stroke: Refinement, Diagnosis, and Prediction: A Scientific Statement From the American Heart Association.

Journal Article Circ Cardiovasc Genet · August 2017 There have been major advances in our knowledge of the contribution of DNA sequence variations to cardiovascular disease and stroke. However, the inner workings of the body reflect the complex interplay of factors beyond the DNA sequence, including epigene ... Full text Link to item Cite

Assessing feasibility of delivering pharmacogenetic testing in a community pharmacy setting.

Journal Article Pharmacogenomics · March 2017 AIM: To describe the rationale and design of a study evaluating the delivery of pharmacogenetic (PGx) testing in community pharmacies. Study rationale: Pharmacists have expressed interest in offering PGx testing; however, their lack of knowledge and experi ... Full text Link to item Cite

INFLUENCE OF SEX ON PLATELET RESPONSE TO ASPIRIN AND TICAGRELOR

Conference Journal of the American College of Cardiology · March 2017 Full text Cite

THE EFFECT OF RACE ON THE ANTIPLATELET EFFECTS OF TICAGRELOR AND ASPIRIN

Conference Journal of the American College of Cardiology · March 2017 Full text 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

Use of Pharmacogenetic Information in the Treatment of Cardiovascular Disease.

Journal Article Clin Chem · January 2017 BACKGROUND: In 1964, Robert A. O'Reilly's research group identified members of a family who required remarkably high warfarin doses (up to 145 mg/day, 20 times the average dose) to achieve appropriate anticoagulation. Since this time, pharmacogenetics has ... Full text Link to item Cite

Pharmacogenetics and Pharmacogenomics

Chapter · January 1, 2017 The goal of pharmacogenomics is to provide the right dose of the right drug to the right patient. The vast majority of current drug response biomarkers can be classified into four general categories: pharmacokinetics, pharmacodynamics, disease pathway, and ... Full text Cite

An electronic health record based model predicts statin adherence, LDL cholesterol, and cardiovascular disease in the United States Military Health System.

Journal Article PLoS One · 2017 HMG-CoA reductase inhibitors (or "statins") are important and commonly used medications to lower cholesterol and prevent cardiovascular disease. Nearly half of patients stop taking statin medications one year after they are prescribed leading to higher cho ... Full text Link to item Cite

PCTP (Phosphatidylcholine Transfer Protein) is Regulated By RUNX1 in Platelets/Megakaryocytes and is Associated with Adverse Cardiovascular Events

Conference Blood · December 2, 2016 AbstractTranscription factor (TF) mutations are increasingly recognized to play a major role in inherited platelet abnormalities. RUNX1, a major hematopoietic TF, acts in a combinatorial manner with other TF ... Full text Cite

Systems Pharmacogenomics Finds RUNX1 Is an Aspirin-Responsive Transcription Factor Linked to Cardiovascular Disease and Colon Cancer.

Journal Article EBioMedicine · September 2016 Aspirin prevents cardiovascular disease and colon cancer; however aspirin's inhibition of platelet COX-1 only partially explains its diverse effects. We previously identified an aspirin response signature (ARS) in blood consisting of 62 co-expressed transc ... Full text Link to item Cite

Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort.

Journal Article Atherosclerosis · November 2015 BACKGROUND: Carotid artery intima media thickness (IMT) in human is a marker of subclinical atherosclerosis with high heritability. Many genome-wide association studies (GWAS) were performed in European and American populations, yet discovery efforts have ... Full text Link to item Cite

Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.

Journal Article Eur Heart J · August 1, 2015 AIMS: Ticagrelor, a direct-acting P2Y12-receptor antagonist, is rapidly absorbed and partly metabolized to the major metabolite AR-C124910XX (ARC). To identify single-nucleotide polymorphisms (SNPs) associated with pharmacokinetics of ticagrelor and clinic ... Full text Link to item Cite

Gene Expression Signatures and the Spectrum of Coronary Artery Disease.

Journal Article J Cardiovasc Transl Res · August 2015 Over the past 10-15 years, developments in gene expression profiling have opened new arenas for the discovery of important factors in the pathogenesis of numerous disease processes, including coronary artery disease. Messenger RNA and microRNA are differen ... Full text Link to item Cite

Personalized antiplatelet and anticoagulation therapy: applications and significance of pharmacogenomics.

Journal Article Pharmgenomics Pers Med · 2015 In recent years, substantial effort has been made to better understand the influence of genetic factors on the efficacy and safety of numerous medications. These investigations suggest that the use of pharmacogenetic data to inform physician decision-makin ... Full text Link to item Cite

Module-based association analysis for omics data with network structure.

Journal Article PLoS One · 2015 Module-based analysis (MBA) aims to evaluate the effect of a group of biological elements sharing common features, such as SNPs in the same gene or metabolites in the same pathways, and has become an attractive alternative to traditional single bio-element ... 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

Gene Expression Profiles Link Respiratory Viral Infection, Platelet Response to Aspirin, and Acute Myocardial Infarction.

Journal Article PLoS One · 2015 BACKGROUND: Influenza infection is associated with myocardial infarction (MI), suggesting that respiratory viral infection may induce biologic pathways that contribute to MI. We tested the hypotheses that 1) a validated blood gene expression signature of r ... Full text Open Access Link to item Cite

Phenotype standardization for statin-induced myotoxicity.

Journal Article Clin Pharmacol Ther · October 2014 Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis. Research in this area has been ham ... Full text Link to item Cite

The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.

Journal Article Clin Pharmacol Ther · October 2014 Simvastatin is among the most commonly used prescription medications for cholesterol reduction. A single coding single-nucleotide polymorphism, rs4149056T>C, in SLCO1B1 increases systemic exposure to simvastatin and the risk of muscle toxicity. We summariz ... Full text Link to item Cite

Phenotype standardization for statin-induced myotoxicity

Journal Article Clinical Pharmacology and Therapeutics · October 1, 2014 Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis. Research in this area has been ham ... Full text Cite

A freeze on tailored antiplatelet therapy?

Journal Article Circulation · May 27, 2014 Full text Link to item Cite

Preoperative CYP2D6 metabolism-dependent β-blocker use and mortality after coronary artery bypass grafting surgery.

Journal Article J Thorac Cardiovasc Surg · April 2014 OBJECTIVE: Recently, the role of β-blockers (BBs) in reducing perioperative mortality has been challenged. The conflicting results might have resulted from the extent of BB metabolism by the cytochrome P-450 (CYP2D6) isoenzyme. The purpose of the present s ... Full text Open Access Link to item Cite

Genetically guided statin therapy on statin perceptions, adherence, and cholesterol lowering: a pilot implementation study in primary care patients.

Journal Article J Pers Med · March 27, 2014 Statin adherence is often limited by side effects. The SLCO1B1*5 variant is a risk factor for statin side effects and exhibits statin-specific effects: highest with simvastatin/atorvastatin and lowest with pravastatin/rosuvastatin. The effects of SLCO1B1*5 ... Full text Link to item Cite

The last line of defense against atherosclerosis

Journal Article Science Translational Medicine · March 19, 2014 Full text Cite

Pharmacogenetics: PREDICTing the era of personalized medicine

Journal Article Science Translational Medicine · February 5, 2014 Full text Cite

A powerful (Re)purpose for genome-wide association studies

Journal Article Science Translational Medicine · January 8, 2014 Full text Cite

Cardiology: Silencing the sounds of hypertrophic cardiomyopathy

Journal Article Science Translational Medicine · November 6, 2013 Full text Cite

Aspirin exposure reveals novel genes associated with platelet function and cardiovascular events.

Journal Article J Am Coll Cardiol · October 1, 2013 OBJECTIVES: The aim of this study was to develop ribonucleic acid (RNA) profiles that could serve as novel biomarkers for the response to aspirin. BACKGROUND: Aspirin reduces death and myocardial infarction (MI), suggesting that aspirin interacts with biol ... Full text Link to item Cite

Drug-induced aches and pains

Journal Article Science Translational Medicine · September 25, 2013 Full text Cite

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection.

Journal Article Sci Transl Med · September 18, 2013 Improved ways to diagnose acute respiratory viral infections could decrease inappropriate antibacterial use and serve as a vital triage mechanism in the event of a potential viral pandemic. Measurement of the host response to infection is an alternative to ... Full text Link to item Cite

Hemostasis and Thrombosis

Journal Article · August 29, 2013 Full text Cite

XiAP-ping castration-resistant prostate cancer

Journal Article Science Translational Medicine · July 3, 2013 Full text Cite

A miR-aculous advance for a rare heart disorder

Journal Article Science Translational Medicine · May 22, 2013 Full text Cite

Diagnosis and prognosis a liquid solution for solid tumors

Journal Article Science Translational Medicine · April 10, 2013 Full text Cite

Delivering pharmacogenetic testing in a primary care setting.

Journal Article Pharmgenomics Pers Med · 2013 Pharmacogenetic testing refers to a type of genetic test to predict a patient's likelihood to experience an adverse event or not respond to a given drug. Despite revision to several labels of commonly prescribed drugs regarding the impact of genetic variat ... Full text Link to item Cite

Using High-Throughput Sequencing of Red Blood Cells and Platelets to Identify Micrornas Associated with Hematopoiesis.

Conference Blood · November 16, 2012 AbstractAbstract 2326Human mature red blood cells (RBC) and platelets are both terminally differentiated cells lacking nuclei. However, these two cell types do possess a dive ... Full text Cite

Hemostasis and Thrombosis

Chapter · November 15, 2012 Full text Cite

Clinical application of cardiovascular pharmacogenetics.

Journal Article J Am Coll Cardiol · July 3, 2012 Pharmacogenetics primarily uses genetic variation to identify subgroups of patients who may respond differently to a certain medication. Since its first description, the field of pharmacogenetics has expanded to study a broad range of cardiovascular drugs ... Full text Link to item Cite

The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.

Journal Article Clin Pharmacol Ther · July 2012 Cholesterol reduction from statin therapy has been one of the greatest public health successes in modern medicine. Simvastatin is among the most commonly used prescription medications. A non-synonymous coding single-nucleotide polymorphism (SNP), rs4149056 ... Full text Link to item Cite

Time-dependent changes in non-COX-1-dependent platelet function with daily aspirin therapy.

Journal Article J Thromb Thrombolysis · April 2012 To develop an integrated metric of non-COX-1-dependent platelet function (NCDPF) to measure the temporal response to aspirin in healthy volunteers and diabetics. NCDPF on aspirin demonstrates wide variability, despite suppression of COX-1. Although a varie ... Full text Link to item Cite

The pharmacogenetics of antiplatelet agents: towards personalized therapy?

Journal Article Nat Rev Cardiol · August 9, 2011 Considerable variability exists in how individual patients respond to oral antiplatelet therapy, specifically to aspirin and to P2Y(12)-receptor inhibitors such as clopidogrel. This variability translates to differences in clinical outcomes and might in pa ... Full text Link to item Cite

A hub for bench-to-bedside pharmacogenomic-based research.

Journal Article Pharmacogenomics · August 2011 In 2003 Duke University (Durham, NC, USA) launched the Institute for Genome Sciences & Policy (IGSP) as an interdisciplinary network of centers comprised of scientists, engineers and physicians, as well as experts in law, business, economics public policy ... 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

Prevalence and clinical characteristics associated with left atrial appendage thrombus in fully anticoagulated patients undergoing catheter-directed atrial fibrillation ablation.

Journal Article J Cardiovasc Electrophysiol · August 1, 2010 INTRODUCTION: Catheter-directed atrial fibrillation (AF) ablation is contraindicated among patients with left atrial appendage (LAA) thrombus. The prevalence of LAA thrombus among fully anticoagulated patients undergoing AF ablation is unknown. METHODS AND ... Full text Link to item Cite

A polymorphism in the VKORC1 regulator calumenin predicts higher warfarin dose requirements in African Americans.

Journal Article Clin Pharmacol Ther · April 2010 Warfarin demonstrates a wide interindividual variability in response that is mediated partly by variants in cytochrome P450 2C9 (CYP2C9) and vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1). It is not known whether variants in calumenin (CALU) (v ... Full text Link to item Cite

Pharmacogenetics of the response to statins

Journal Article Current Cardiovascular Risk Reports · December 1, 2009 Statins (inhibitors of the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase) are widely prescribed medications for the prevention of incident and recurrent cardiovascular disease events and death. They are powerful assets in the current arsenal of ca ... Full text Cite

Evaluation of the PharmGKB knowledge base as a resource for efficiently assessing the clinical validity and utility of pharmacogenetic assays.

Journal Article AMIA Annu Symp Proc · November 14, 2009 Prior to clinical use, pharmacogenetic tests should be systematically evaluated for their clinical validity and utility. Here, we evaluated whether the publicly available, online Pharmacogenomics Knowledge Base (PharmGKB) could facilitate such assessments ... 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

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

Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin.

Journal Article Clin Pharmacol Ther · September 2008 Initiation of warfarin therapy using trial-and-error dosing is problematic. Our goal was to develop and validate a pharmacogenetic algorithm. In the derivation cohort of 1,015 participants, the independent predictors of therapeutic dose were: VKORC1 polymo ... Full text Link to item Cite

Genetic-based dosing in orthopedic patients beginning warfarin therapy.

Journal Article Blood · September 1, 2007 High variability in drug response and a narrow therapeutic index complicate warfarin therapy initiation. No existing algorithm provides recommendations on refining the initial warfarin dose based on genetic variables, clinical data, and international norma ... Full text Link to item Cite

Is primary care ready for pharmacogenetics?

Journal Article Pharmacogenomics · January 2006 Full text Link to item Cite

The pharmacogenetics of coumarin therapy.

Journal Article Pharmacogenomics · July 2005 Vitamin K antagonists (coumarins) are widely-used oral anticoagulants for the prevention of venous thromboembolism and strokes. Wide inter-individual variation in dose response and frequent bleeds characterize the initiation of coumarin therapy. Over the p ... Full text Link to item Cite

Prospective dosing of warfarin based on cytochrome P-450 2C9 genotype.

Journal Article Thromb Haemost · April 2005 Cytochrome P-450 2C9 (CYP2C9) polymorphisms (CYP2C9*2 and CYP2C9*3) reduce the clearance of warfarin, increase the risk of bleeding, and prolong the time to stable dosing. Whether prospective use of a retrospectively developed algorithm that incorporates C ... Full text Link to item Cite

Use of pharmacogenetics to guide warfarin therapy.

Journal Article Drugs Today (Barc) · March 2004 The Human Genome Project heralds new opportunities for pharmacogenetics, the use of genetics to individualize the application of pharmaceuticals in the practice of medicine (1-3). Single nucleotide polymorphisms (SNPs) and other genetic variants in genes r ... Full text Link to item Cite

Mesenteric vein thrombosis associated with intravaginal contraceptives: a case report and review of the literature.

Journal Article J Thromb Thrombolysis · April 2003 Mesenteric vein thrombosis (MVT) is a distinct clinical cause of intestinal ischemia representing 5-15% of all ischemic events. MVT has acute, subacute, and chronic presentations and an underlying cause can be found in nearly 75% of cases. Exogenous hormon ... Full text Link to item Cite

Effect of reduced inspired oxygen on fetal growth and maternal glucose metabolism in rat pregnancy.

Journal Article Metabolism · June 1999 The effect of prolonged exposure to a reduced fraction of inspired oxygen ([FiO2] 0.17 for 3 days) on maternal glucose kinetics, placental glucose transporters GLUT1 and GLUT3, and fetal growth was examined in rat pregnancy. Arterial and venous catheters w ... Full text Link to item Cite

Differential regulation of transcription: repression by unactivated mitogen-activated protein kinase Kss1 requires the Dig1 and Dig2 proteins.

Journal Article Proc Natl Acad Sci U S A · December 22, 1998 Kss1, a yeast mitogen-activated protein kinase (MAPK), in its unphosphorylated (unactivated) state binds directly to and represses Ste12, a transcription factor necessary for expression of genes whose promoters contain filamentous response elements (FREs) ... Full text Link to item Cite

Repression of yeast Ste12 transcription factor by direct binding of unphosphorylated Kss1 MAPK and its regulation by the Ste7 MEK.

Journal Article Genes Dev · September 15, 1998 The mitogen-activated protein kinase (MAPK) Kss1 has a dual role in regulating filamentous (invasive) growth of the yeast Saccharomyces cerevisiae. The stimulatory function of Kss1 requires both its catalytic activity and its activation by the MAPK/ERK kin ... Full text Link to item Cite