Scholars@Duke
Yi-Ju Li

Yi-Ju Li

Professor of Biostatistics & Bioinformatics
Biostatistics & Bioinformatics, Division of Integrative Genomics
yiju.li@duke.edu
Duke Box 104775, Durham, NC 27708
300 North Duke Street, 47-122 Carmichael Warehouse, Durham, NC 27701

Selected Publications

Mental health needs and barriers to service in the Chinese American community: insights gained from focus groups.

Journal Article Ethn Health · November 2024 OBJECTIVES: Mental health remains an unmet need among Chinese Americans. This study aims to identify specific needs and strategies that may address the needs. DESIGN: A total of 55 Chinese Americans consented and participated in online focus groups conduct ... Full text Link to item Cite

Risk Factors for Increased Opioid Use During Postoperative Intensive Care.

Journal Article Crit Care Explor · November 1, 2024 IMPORTANCE: In the ICU, opioids treat pain and improve ventilator tolerance as part of an analgosedation approach. Identifying predictors of opioid consumption during the ICU course might highlight actionable items to reduce opioid consumption. OBJECTIVES: ... Full text Link to item Cite

Genetic variants associated with immune-mediated liver injury from checkpoint inhibitors.

Journal Article Hepatol Commun · September 1, 2024 BACKGROUND: The clinical features, liver histology, and genetic variants in 57 patients with moderate to severe immune-mediated liver injury from checkpoint inhibitors (ILICI) are presented. METHODS: Between 2010 and 2022, 57 high-causality ILICI cases wer ... Full text Link to item Cite

ERAP-1 and ERAP-2 Variants in Liver Injury After COVID-19 mRNA Vaccination: A US Multicenter Study.

Journal Article Am J Gastroenterol · August 1, 2024 INTRODUCTION: The aim of this study is to describe the presenting features, genetic factors, and outcomes of 23 adults who developed liver injury after coronavirus disease 2019 (COVID-19) mRNA vaccination. METHODS: Patients with suspected COVID-19 vaccine ... Full text Link to item Cite

An osteoarthritis pathophysiological continuum revealed by molecular biomarkers.

Journal Article Sci Adv · April 26, 2024 We aimed to identify serum biomarkers that predict knee osteoarthritis (OA) before the appearance of radiographic abnormalities in a cohort of 200 women. As few as six serum peptides, corresponding to six proteins, reached AUC 77% probability to distinguis ... Full text Link to item Cite

A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.

Journal Article Commun Biol · April 6, 2024 Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program followed by mul ... Full text Link to item Cite

Serum proteomic biomarkers diagnostic of knee osteoarthritis.

Conference Osteoarthritis Cartilage · March 2024 OBJECTIVE: To better understand the pathogenesis of knee osteoarthritis (OA) through identification of serum diagnostics. DESIGN: We conducted multiple reaction monitoring mass spectrometry analysis of 107 peptides in baseline sera of two cohorts: the Foun ... Full text Link to item Cite

Serum proteomic panel validated for prediction of knee osteoarthritis progression.

Journal Article Osteoarthr Cartil Open · March 2024 OBJECTIVE: To further validate a serum proteomics panel for predicting radiographic (structural) knee OA progression. DESIGN: Serum peptides were targeted by multiple-reaction-monitoring mass spectrometry in the New York University cohort (n ​= ​104). Knee ... Full text Link to item Cite

Cognitive Effects of Body Temperature During Hypothermic Circulatory Arrest Trial (GOT ICE): A Randomized Clinical Trial Comparing Outcomes After Aortic Arch Surgery.

Journal Article Circulation · February 27, 2024 BACKGROUND: Deep hypothermia has been the standard for hypothermic circulatory arrest (HCA) during aortic arch surgery. However, centers worldwide have shifted toward lesser hypothermia with antegrade cerebral perfusion. This has been supported by retrospe ... Full text Link to item Cite

HLA-B*53:01 Is a Significant Risk Factor of Liver Injury due to Phenytoin and Other Antiepileptic Drugs in African Americans.

Journal Article Am J Gastroenterol · January 1, 2024 INTRODUCTION: To investigate human leukocyte antigen alleles associated with liver injury due to antiepileptic drugs (AEDs) in African Americans (AA). METHODS: In this study, 21 AA with AED drug-induced liver injury (DILI), 176 AA with DILI due to non-AEDs ... Full text Link to item Cite

Vancomycin-Induced Liver Injury, DRESS, and HLA-A∗32:01.

Journal Article J Allergy Clin Immunol Pract · January 2024 BACKGROUND: Intravenous vancomycin therapy can cause liver injury as well as "drug reaction with eosinophilia and systemic symptoms" (DRESS) syndrome. This study aimed to better define the clinical features and HLA associations of vancomycin-induced liver ... Full text Link to item Cite

The Impact of Patient Age and Corticosteroids in Patients With Sulfonamide Hepatotoxicity.

Journal Article Am J Gastroenterol · September 1, 2023 INTRODUCTION: Sulfonamides are widely used to treat and prevent various bacterial and opportunistic infections. The aim of this study was to describe the clinical presentation and outcomes of a large cohort of patients with sulfonamide hepatotoxicity. METH ... Full text Link to item Cite

Hyperglycemia, Ischemic Lesions, and Functional Outcomes After Intracerebral Hemorrhage.

Journal Article J Am Heart Assoc · July 4, 2023 Background Ischemic lesions observed on diffusion-weighted imaging (DWI) magnetic resonance imaging are associated with poor outcomes after intracerebral hemorrhage (ICH). We evaluated the association between hyperglycemia, ischemic lesions, and functional ... Full text Link to item Cite

Association of Dipeptidylpeptidase 4 (CD26) With Chondrocyte Senescence and Radiographic Progression in Knee Osteoarthritis.

Journal Article Arthritis Rheumatol · July 2023 OBJECTIVE: To evaluate the association of dipeptidylpeptidase 4 (DPP-4; also known as CD26) with cellular senescence of human cartilage and progression of knee osteoarthritis (OA). METHODS: Articular cartilage sections and chondrocytes were acquired from 3 ... Full text Link to item Cite

Identification of novel genes for age-at-onset of Alzheimer's disease by combining quantitative and survival trait analyses.

Journal Article Alzheimers Dement · July 2023 INTRODUCTION: Our understanding of the genetic predisposition for age-at-onset (AAO) of Alzheimer's disease (AD) is limited. Here, we sought to identify genes modifying AAO and examined whether any have sex-specific effects. METHODS: Genome-wide associatio ... Full text Link to item Cite

Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation.

Journal Article Res Sq · May 3, 2023 Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular pathophysiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program (MVP) an ... 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

Identification of Reduced ERAP2 Expression and a Novel HLA Allele as Components of a Risk Score for Susceptibility to Liver Injury Due to Amoxicillin-Clavulanate.

Journal Article Gastroenterology · March 2023 BACKGROUND & AIMS: Drug-induced liver injury (DILI) due to amoxicillin-clavulanate (AC) has been associated with HLA-A∗02:01, HLA-DRB1∗15:01, and rs2476601, a missense variant in PTPN22. The aim of this study was to identify novel risk factors for AC-DILI ... Full text Link to item Cite

Clinical features, outcomes, and HLA risk factors associated with nitrofurantoin-induced liver injury.

Journal Article J Hepatol · February 2023 BACKGROUND & AIMS: Nitrofurantoin (NTF) is widely used for the treatment (short-term) and prevention (long-term) of urinary tract infections. We aimed to describe the clinical characteristics, outcomes, and HLA risk factors for NTF-induced liver injury (NT ... Full text Link to item Cite

Explainable machine learning aggregates polygenic risk scores and electronic health records for Alzheimer's disease prediction.

Journal Article Sci Rep · January 9, 2023 Alzheimer's disease (AD) is the most common late-onset neurodegenerative disorder. Identifying individuals at increased risk of developing AD is important for early intervention. Using data from the Alzheimer Disease Genetics Consortium, we constructed pol ... Full text Link to item Cite

A "best-in-class" systemic biomarker predictor of clinically relevant knee osteoarthritis structural and pain progression.

Journal Article Science advances · January 2023 We aimed to identify markers in blood (serum) to predict clinically relevant knee osteoarthritis (OA) progression defined as the combination of both joint structure and pain worsening over 48 months. A set of 15 serum proteomic markers corresponding to 13 ... Full text Cite

Combining quantitative and survival trait analyses identifies novel general and sex-specific genes for age-at-onset of Alzheimer’s disease

Journal Article Alzheimer's and Dementia · December 1, 2022 Background: Alzheimer’s disease (AD) has high genetic heritability for both disease risk and age-at-onset (AAO) of AD. However, our understanding of genetics of AAO of AD lags behind AD risk. Here, we utilized two statistical approaches to identify genes m ... Full text Cite

Abstract P341: BLOOD PRESSURE RESPONSES OF RICE DIET PROGRAM PATIENTS WITH MALIGNANT HYPERTENSION

Journal Article Hypertension · September 2022 Introduction: Prior to the availability of effective anti-hypertensive medications, patients with malignant hypertension (MH) had a poor prognosis with a median survival of ~eight months. During this ... Full text Cite

Garcinia cambogia, Either Alone or in Combination With Green Tea, Causes Moderate to Severe Liver Injury.

Journal Article Clin Gastroenterol Hepatol · June 2022 BACKGROUND & AIMS: Garcinia cambogia, either alone or with green tea, is commonly promoted for weight loss. Sporadic cases of liver failure from G cambogia have been reported, but its role in liver injury is controversial. METHODS: Among 1418 patients enro ... Full text Link to item Cite

Precisely modeling zero-inflated count phenotype for rare variants.

Journal Article Genet Epidemiol · February 2022 Count data with excessive zeros are increasingly ubiquitous in genetic association studies, such as neuritic plaques in brain pathology for Alzheimer's disease. Here, we developed gene-based association tests to model such data by a mixture of two distribu ... Full text Link to item Cite

Abstract TP133: Diabetes/hyperglycemia Is Associated With Poor Six-month Functional Outcomes, But Is Not Associated With The Development Of Microvascular Ischemic Lesions After Intracerebral Hemorrhage

Conference Stroke · February 2022 Introduction: Ischemic lesions seen on diffusion weighted imaging (DWI) are associated with worsened outcomes after intracerebral hemorrhage (ICH) and are thought to arise due to microvascular damage. ... Full text Cite

Allopurinol hepatotoxicity is associated with human leukocyte antigen Class I alleles.

Journal Article Liver Int · August 2021 BACKGROUND/AIMS: Allopurinol can cause HLA class I-associated life-threatening severe skin reactions. However, HLA risk and association with clinical features in allopurinol hepatotoxicity are unknown. METHODS: Eleven of 17 patients with suspected allopuri ... Full text Link to item Cite

HLA-B*35:01 and Green Tea-Induced Liver Injury.

Journal Article Hepatology · June 2021 BACKGROUND AND AIMS: Herbal supplements, and particularly multi-ingredient products, have become increasingly common causes of acute liver injury. Green tea is a frequent component in implicated products, but its role in liver injury is controversial. The ... Full text Link to item Cite

Conventional Ultrafiltration During Elective Cardiac Surgery and Postoperative Acute Kidney Injury.

Journal Article J Cardiothorac Vasc Anesth · May 2021 OBJECTIVE: Conventional ultrafiltration (CUF) during cardiopulmonary bypass (CPB) serves to hemoconcentrate blood volume to avoid allogeneic blood transfusions. Previous studies have determined CUF volumes as a continuous variable are associated with posto ... Full text Open Access Link to item Cite

Does a recent urinary tract infection increase the risk of postprocedure urinary tract infection after onabotulinum toxin a?

Journal Article Obstetrical and Gynecological Survey · May 1, 2021 Onabotulinum toxin A (BTX-A) is commonly used as treatment for refractory overactive bladder (OAB) but is associated with postprocedural urinary tract infection (UTI) in up to 35% of cases despite antibiotic prophylaxis. In women with recent UTI, it is unc ... Full text Cite

An exploration of genetic association tests for disease risk and age at onset.

Journal Article Genet Epidemiol · April 2021 Risk genes influence the chance of an individual developing disease over their lifetime, although the age at onset (AAO) genes influence disease timing. These two categories are not disjoint; a gene that influences AAO might also appear to influence the ri ... Full text Link to item Cite

Associations between Features of External Ventricular Drain Management, Disposition, and Shunt Dependence

Journal Article Journal of Neuroanaesthesiology and Critical Care · March 1, 2021 Background In the United States, nearly 25,000 patients annually undergo percutaneous ventriculostomy for the management of increased intracranial pressure with little consensus on extraventricular drain management. To characterize relationships between ex ... Full text Open Access Cite

Does a Recent Urinary Tract Infection Increase the Risk of Postprocedure Urinary Tract Infection After Onabotulinum Toxin A?

Journal Article Female Pelvic Med Reconstr Surg · February 1, 2021 OBJECTIVES: The objective of this study was to evaluate the risk of postprocedure urinary tract infection (UTI) after injection of onabotulinum toxin A (BTX-A) in women who had a UTI within 30 days before procedure. METHODS: This was a retrospective cohort ... Full text Link to item Cite

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion.

Journal Article Invest Ophthalmol Vis Sci · January 4, 2021 PURPOSE: To characterize inheritance, penetrance, and trinucleotide repeat expansion stability in Fuchs endothelial corneal dystrophy (FECD). METHODS: One thousand unrelated and related subjects with and without FECD were prospectively recruited. CTG18.1 r ... Full text Link to item Cite

Human Leukocyte Antigen B*14:01 and B*35:01 Are Associated With Trimethoprim-Sulfamethoxazole Induced Liver Injury.

Journal Article Hepatology · January 2021 BACKGROUND AND AIMS: Trimethoprim (TMP)-sulfamethoxazole (SMX) is an important cause of idiosyncratic drug-induced liver injury (DILI), but its genetic risk factors are not well understood. This study investigated the relationship between variants in the h ... Full text Link to item Cite

Unplanned hospital admission after ambulatory surgery: a retrospective, single cohort study.

Journal Article Can J Anaesth · January 2021 PURPOSE: We estimated the rate of unplanned hospital and intensive care unit (ICU) admissions following ambulatory surgery centre (ASC) procedures, and identified factors associated with their occurrence. METHODS: This retrospective cohort included adult p ... Full text Link to item Cite

Cerebrospinal Fluid Proteome Changes in Older Non-Cardiac Surgical Patients with Postoperative Cognitive Dysfunction.

Journal Article J Alzheimers Dis · 2021 BACKGROUND: Postoperative cognitive dysfunction (POCD), a syndrome of cognitive deficits occurring 1-12 months after surgery primarily in older patients, is associated with poor postoperative outcomes. POCD is hypothesized to result from neuroinflammation; ... Full text Open Access Link to item Cite

Dexamethasone as an Analgesic Adjunct for Postcesarean Delivery Pain: A Randomized Controlled Trial.

Journal Article Anesthesiol Res Pract · 2021 OBJECTIVES: Dexamethasone has been shown to have analgesic properties in the general surgical population. However, the analgesic effects for women that undergo cesarean deliveries under spinal anesthesia remain unclear and may be related to the timing of d ... Full text Link to item Cite

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

Journal Article J Cardiothorac Vasc Anesth · December 2020 OBJECTIVE: Acute 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 disease in i ... Full text Link to item Cite

Patient and procedural risk factors for increased postoperative pain after cesarean delivery under neuraxial anesthesia: a retrospective study.

Journal Article Int J Obstet Anesth · November 2020 BACKGROUND: There is significant interindividual variability in pain experienced after cesarean delivery. The goal of this study was to identify risk factors for increased postoperative pain in women undergoing cesarean delivery under neuraxial anesthesia ... Full text Link to item Cite

A comparison of antibiotic prophylaxis regimens to decrease the risk of post-procedure urinary tract infection after onabotulinum toxin A injection.

Journal Article Int Urogynecol J · September 2020 INTRODUCTION AND HYPOTHESIS: To evaluate the risk of post-injection urinary tract infection (UTI) after onabotulinumtoxin A (BTX-A) treatment based on the timing of when antibiotic prophylaxis is started. METHODS: This is a retrospective cohort study of 11 ... Full text Link to item Cite

Analgesic use after vaginal delivery in women with perineal lacerations: a retrospective cohort study.

Journal Article Curr Med Res Opin · June 2020 Objective: To evaluate opioid consumption among parturients with varying degrees of perineal lacerations.Methods: This was a retrospective analysis of women who delivered vaginally at our institution from 1 January 2014 to 12 April 2015. We collected infor ... Full text Link to item Cite

Intraoperative renal resistive index threshold as an acute kidney injury biomarker.

Journal Article J Clin Anesth · May 2020 STUDY OBJECTIVE: The lag in creatinine-mediated diagnosis of cardiac surgery-associated acute kidney injury (AKI) may be impeding the development of renoprotection therapies. Postoperative renal resistive index (RRI) measured by transabdominal Doppler ultr ... Full text Link to item Cite

Peak serum estradiol and neonatal birth weight following in vitro fertilization

Conference Journal of Reproductive Medicine · January 1, 2020 OBJECTIVE: To determine if peak serum estradiol (E2) during ovarian hyperstimulation for in vitro fertilization (IVF) is associated with birth weight. STUDY DESIGN: Retrospective cohort study of women aged 18–42 with a singleton live birth after fresh, aut ... Full text Cite

Synovial fluid biomarkers associated with osteoarthritis severity reflect macrophage and neutrophil related inflammation.

Journal Article Arthritis Res Ther · June 13, 2019 BACKGROUND: To identify a synovial fluid (SF) biomarker profile characteristic of individuals with an inflammatory osteoarthritis (OA) endotype. METHODS: A total of 48 knees (of 25 participants) were characterized for an extensive array of SF biomarkers qu ... Full text Link to item Cite

Intravenous Lidocaine Does Not Improve Neurologic Outcomes after Cardiac Surgery: A Randomized Controlled Trial.

Journal Article Anesthesiology · June 2019 BACKGROUND: Cognitive decline after cardiac surgery occurs frequently and persists in a significant proportion of patients. Preclinical studies and human trials suggest that intravenous lidocaine may confer protection in the setting of neurologic injury. I ... Full text Open Access Link to item Cite

A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.

Journal Article Gastroenterology · May 2019 BACKGROUND & AIMS: We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility. METHODS: We performed a genome-wide association study of 2048 indi ... Full text Link to item Cite

Three-factor prothrombin complex concentrates for refractory bleeding after cardiovascular surgery within an algorithmic approach to haemostasis.

Journal Article Vox Sang · May 2019 BACKGROUND/OBJECTIVES: Prothrombin complex concentrates (PCC) are increasingly administered off-label in the United States to treat bleeding in cardiovascular surgical patients and carry the potential risk for acquired thromboembolic side-effects after sur ... Full text Open Access Link to item Cite

Sex Differences in Gene and Protein Expression After Intracerebral Hemorrhage in Mice.

Journal Article Transl Stroke Res · April 2019 Sex dimorphism has been demonstrated after experimental intracerebral hemorrhage (ICH). Decreased mortality and improved neurobehavioral outcomes occur in female compared to male mice after intrastriatal autologous blood or collagenase injection. Sex-speci ... Full text Link to item Cite

Family-based association tests for rare variants with censored traits.

Journal Article PLoS One · 2019 We propose a set of family-based burden and kernel tests for censored traits (FamBAC and FamKAC). Here, censored traits refer to time-to-event outcomes, for instance, age-at-onset of a disease. To model censored traits in family-based designs, we used the ... Full text Link to item Cite

Biomarkers of inflammation - LBP and TLR- predict progression of knee osteoarthritis in the DOXY clinical trial.

Journal Article Osteoarthritis Cartilage · December 2018 OBJECTIVE: To evaluate systemic inflammatory biomarkers in symptomatic knee osteoarthritis (OA) and their association with radiographic and biochemical OA progression. METHODS: Lipopolysaccharide (LPS) binding protein (LBP), soluble Toll-like receptor 4 (s ... 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 Thromb Haemost · 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 undergoing co ... Full text 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

18F-florbetapir Positron Emission Tomography-determined Cerebral β-Amyloid Deposition and Neurocognitive Performance after Cardiac Surgery.

Journal Article Anesthesiology · April 2018 BACKGROUND: Amyloid deposition is a potential contributor to postoperative cognitive dysfunction. The authors hypothesized that 6-week global cortical amyloid burden, determined by F-florbetapir positron emission tomography, would be greater in those patie ... Full text Link to item Cite

Preterm Delivery and Low Birth Weight Among Neonates Conceived With Intracytoplasmic Sperm Injection Compared With Conventional In Vitro Fertilization.

Journal Article Obstet Gynecol · February 2018 OBJECTIVE: To examine the prevalence of prematurity and low birth weight (LBW) among singletons conceived with intracytoplasmic sperm injection (ICSI) compared with those conceived with conventional in vitro fertilization (IVF). METHODS: Using the Society ... Full text Link to item Cite

Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage.

Journal Article J Stroke Cerebrovasc Dis · January 2018 BACKGROUND AND PURPOSE: Genes associated with the inflammatory response and cytostructural integrity may influence recovery following a brain injury. To examine this in the setting of spontaneous intracerebral hemorrhage (ICH), selected single nucleotide p ... Full text Link to item Cite

Correlation of Virtual Reality Simulation and Dry Lab Robotic Technical Skills.

Journal Article J Minim Invasive Gynecol · 2018 STUDY OBJECTIVE: To examine whether a set of virtual reality (VR) surgical simulation drills have correlative validity when compared with the validated Robotic Objective Structured Assessment of Technical Skills (R-OSATS) dry lab drills. DESIGN: A prospect ... Full text Link to item Cite

Facilitating the Calculation of the Efficient Score Using Symbolic Computing.

Journal Article Am Stat · 2018 The score statistic continues to be a fundamental tool for statistical inference. In the analysis of data from high-throughput genomic assays, inference on the basis of the score usually enjoys greater stability, considerably higher computational efficienc ... Full text Link to item Cite

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Journal Article Nat Commun · March 30, 2017 The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiri ... Full text Link to item Cite

Leveraging population information in family-based rare variant association analyses of quantitative traits.

Journal Article Genet Epidemiol · February 2017 Confounding due to population substructure is always a concern in genetic association studies. Although methods have been proposed to adjust for population stratification in the context of common variation, it is unclear how well these approaches will work ... Full text Link to item Cite

Maintenance and Representation of Mind Wandering during Resting-State fMRI.

Journal Article Sci Rep · January 12, 2017 Major advances in resting-state functional magnetic resonance imaging (fMRI) techniques in the last two decades have provided a tool to better understand the functional organization of the brain both in health and illness. Despite such developments, charac ... Full text Open Access Link to item Cite

Mast cell activation and arterial hypotension during proximal aortic repair requiring hypothermic circulatory arrest.

Journal Article J Thorac Cardiovasc Surg · January 2017 OBJECTIVE: Aortic surgeries requiring hypothermic circulatory arrest evoke systemic inflammatory responses that often manifest as vasoplegia and hypotension. Because mast cells can rapidly release vasoactive and proinflammatory effectors, we investigated t ... Full text Open Access Link to item Cite

Baseline Pulse Pressure, Acute Kidney Injury, and Mortality After Noncardiac Surgery.

Journal Article Anesth Analg · December 2016 BACKGROUND: Increased pulse pressure (PP) is an important independent predictor of cardiovascular outcome and acute kidney injury (AKI) after cardiac surgery. The objective of this study was to determine whether elevated baseline PP is associated with post ... Full text Open Access Link to item Cite

Serum peak estradiol and neonatal birth weight following in vitro fertilization

Conference Fertility and Sterility · October 15, 2016 Cite

In Reply.

Journal Article Anesthesiology · August 2016 Full text Link to item Cite

In Reply

Journal Article Anesthesiology · August 1, 2016 Full text Cite

The Effect of Propofol Versus Isoflurane Anesthesia on Human Cerebrospinal Fluid Markers of Alzheimer's Disease: Results of a Randomized Trial.

Journal Article J Alzheimers Dis · April 15, 2016 BACKGROUND: Preclinical studies have found differential effects of isoflurane and propofol on the Alzheimer's disease (AD)-associated markers tau, phosphorylated tau (p-tau) and amyloid-β (Aβ). OBJECTIVE: We asked whether isoflurane and propofol have diffe ... Full text Open Access Link to item Cite

Interleukin-1β gene variants are associated with QTc interval prolongation following cardiac surgery: a prospective observational study.

Journal Article Can J Anaesth · April 2016 BACKGROUND: We characterized cardiac surgery-induced dynamic changes of the corrected QT (QTc) interval and tested the hypothesis that genetic factors are associated with perioperative QTc prolongation independent of clinical and procedural factors. METHOD ... Full text Open Access Link to item Cite

Gene signatures of postoperative atrial fibrillation in atrial tissue after coronary artery bypass grafting surgery in patients receiving β-blockers.

Journal Article J Mol Cell Cardiol · March 2016 Atrial tissue gene expression profiling may help to determine how differentially expressed genes in the human atrium before cardiopulmonary bypass (CPB) are related to subsequent biologic pathway activation patterns, and whether specific expression profile ... Full text Link to item Cite

Platelet Counts, Acute Kidney Injury, and Mortality after Coronary Artery Bypass Grafting Surgery.

Journal Article Anesthesiology · February 2016 BACKGROUND: Cardiac surgery requiring cardiopulmonary bypass is associated with platelet activation. Because platelets are increasingly recognized as important effectors of ischemia and end-organ inflammatory injury, the authors explored whether postoperat ... Full text Open Access Link to item Cite

High peak estradiol/mature oocyte ratio predicts lower clinical pregnancy, ongoing pregnancy, and live birth rates in GnRH antagonist intracytoplasmic sperm injection cycles

Journal Article Journal of Reproductive Medicine · February 1, 2016 OBJECTIVE: To define the relationship between peak estradiol (E2)/mature oocyte ratio and pregnancy outcomes in gonadotropin-releasing hormone (GnRH) antagonist intracytoplasmic sperm injection (ICSI) cycles. STUDY DESIGN: Retrospective cohort study in the ... Cite

High Peak Estradiol/Mature Oocyte Ratio Predicts Lower Clinical Pregnancy, Ongoing Pregnancy, and Live Birth Rates in GnRH Antagonist Intracytoplasmic Sperm Injection Cycles.

Journal Article J Reprod Med · 2016 OBJECTIVE: To define the relationship between peak estradiol (E2)/mature oocyte ratio and pregnancy outcomes in gonadotropin-releasing hormone (GnRH) antagonist intracytoplasmic sperm injection (ICSI) cycles. STUDY DESIGN: Retrospective cohort study in the ... Link to item Cite

The Role of Progesterone and a Novel Progesterone Receptor, Progesterone Receptor Membrane Component 1, in the Inflammatory Response of Fetal Membranes to Ureaplasma parvum Infection.

Journal Article PLoS One · 2016 Ureaplasma parvum (U. parvum) is gaining recognition as an important pathogen for chorioamnionitis and preterm premature rupture of membranes. We aimed to investigate the roles of progesterone (P4) and a novel progesterone receptor, progesterone receptor m ... Full text Link to item Cite

Levels of Urinary Metabolites of Organophosphate Flame Retardants, TDCIPP, and TPHP, in Pregnant Women in Shanghai.

Journal Article J Environ Public Health · 2016 Flame retardants are widely used in consumer products to reduce their flammability. Previously used flame retardants have been sequentially banned due to their environmental and human toxicity. Currently, tris(1,3-dichloropropyl) phosphate (TDCIPP) and tri ... Full text Open Access Link to item Cite

High peak estradiol predicts higher miscarriage and lower live birth rates in high responders triggered with a gnrh agonist in IVF/ICSI cycles

Journal Article Journal of Reproductive Medicine · December 1, 2015 OBJECTIVE: To investigate parameters predictive of pregnancy outcomes in high responders undergoing fresh, autologous, GnRH antagonist IVF/ICSI cycles using a GnRH agonist trigger. STUDY DESIGN: Retrospective cohort study of all patients deemed high-risk f ... Cite

Nosocomial transmission of avian influenza A (H7N9) virus in China: epidemiological investigation.

Journal Article BMJ · November 19, 2015 STUDY QUESTION: Can avian influenza A (H7N9) virus be transmitted between unrelated individuals in a hospital setting? METHODS: An epidemiological investigation looked at two patients who shared a hospital ward in February 2015, in Quzhou, Zhejiang Provinc ... 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 Int · October 2015 Featured Publication 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 Link to item Cite

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

Journal Article Am Heart J · September 2015 BACKGROUND: Postoperative 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. METHODS: Study subjects underwent ... Full text Link to item Cite

Paravertebral Block for Inguinal Herniorrhaphy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Journal Article Anesth Analg · August 2015 BACKGROUND: Paravertebral block (PVB) is a safe and effective anesthetic technique for thoracotomy and mastectomy. However, no systematic review or meta-analysis has focused on PVB for inguinal herniorrhaphy. Our study compares PVB with general anesthesia/ ... Full text Open Access Link to item Cite

Apolipoprotein epsilon 4 genotype is associated with less improvement in cognitive function five years after cardiac surgery: a retrospective cohort study.

Journal Article Can J Anaesth · June 2015 Featured Publication PURPOSE: Cognitive performance after cardiac surgery can be impaired, and genetic risk factors have previously been suggested. When compared with other isoforms of the gene, the apolipoprotein epsilon 4 (APOE4) allele is associated with worse outcomes in m ... Full text Link to item Cite

Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.

Journal Article BMJ Open · May 6, 2015 Featured Publication OBJECTIVES: Identification of patient subpopulations susceptible to develop myocardial infarction (MI) or, conversely, those displaying either intrinsic cardioprotective phenotypes or highly responsive to protective interventions remain high-priority knowl ... Full text Open Access Link to item Cite

Invited commentary.

Journal Article Ann Thorac Surg · March 2015 Full text Link to item Cite

High Peak Estradiol Predicts Higher Miscarriage and Lower Live Birth Rates in High Responders Triggered with a GnRH Agonist in IVF/ICSI Cycles.

Journal Article J Reprod Med · 2015 OBJECTIVE: To investigate parameters predictive of pregnancy outcomes in high responders undergoing fresh, autologous, GnRH antagonist IVF/ICSI cycles using a GnRH agonist trigger. STUDY DESIGN: Retrospective cohort study of all patients deemed high-risk f ... 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 Circ Cardiovasc Genet · October 2014 Featured Publication BACKGROUND: We 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 with pe ... Full text Link to item Cite

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Journal Article Invest Ophthalmol Vis Sci · June 10, 2014 Featured Publication PURPOSE: We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS: Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 c ... Full text Link to item Cite

Common variants in TCF4 and three novel genes increase susceptibility to Fuchs Dystrophy

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Journal Article Hum Mol Genet · March 15, 2014 Featured Publication The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling of five CpG islands (CGI-1 to CGI-5) in the SHANK3 gene in ... Full text Link to item Cite

Intraoperative magnesium administration does not improve neurocognitive function after cardiac surgery.

Journal Article Stroke · December 2013 BACKGROUND AND PURPOSE: Neurocognitive decline occurs frequently after cardiac surgery and persists in a significant number of patients. Magnesium is thought to provide neuroprotection by preservation of cellular energy metabolism, blockade of the N-methyl ... Full text Link to item Cite

An Investigation of Mitochondrial Haplogroups in Fuchs Endothelial Corneal Dystrophy

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Journal Article Am J Hum Genet · May 2, 2013 Featured Publication Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal deta ... Full text Link to item Cite

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

Journal Article Invest Ophthalmol Vis Sci · March 21, 2013 PURPOSE: Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, MYP3, has been reported on chromosome 12q21-23 by four independent linkage studies. METHODS: ... Full text Link to item Cite

Predictors of cognitive recovery after cardiac surgery.

Journal Article Anesth Analg · February 2013 BACKGROUND: Postoperative neurocognitive decline occurs frequently. Although predictors of cognitive injury have been well examined, factors that modulate recovery have not. We sought to determine the predictors of cognitive recovery after initial injury f ... Full text Link to item Cite

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Journal Article Mol Vis · 2013 Featured Publication PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is a genetically heterogeneous disorder that has been primarily studied in patients of European or Asian ancestry. Given the sparse literature on African Americans with FECD, we sought to characterize the ... 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

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Journal Article Hum Genet · September 2012 Featured Publication Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, w ... Full text Link to item Cite

Blood Pressure-Lowering Mechanisms of the DASH Dietary Pattern.

Journal Article J Nutr Metab · 2012 Potential blood pressure- (BP-) lowering mechanisms of the DASH dietary pattern were measured in 20 unmedicated hypertensive adults in a controlled feeding study. At screening, participants averaged 44.3 ± 7.8 years, BMI 33.9 ± 6.6 Kg/m(2), and BP 144.2 ± ... Full text Open Access Link to item Cite

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.

Journal Article Mol Vis · 2012 Featured Publication PURPOSE: To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites. METHODS: Genomic DNA samp ... Link to item Cite

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Journal Article PLoS Genet · 2012 Featured Publication As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide associ ... Full text Link to item Cite

Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Journal Article PLoS Genet · December 2011 Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual ... Full text Link to item Cite

Evaluation metrics for biostatistical and epidemiological collaborations.

Journal Article Stat Med · October 15, 2011 Increasing demands for evidence-based medicine and for the translation of biomedical research into individual and public health benefit have been accompanied by the proliferation of special units that offer expertise in biostatistics, epidemiology, and res ... Full text Link to item Cite

Recruiting intergenerational African American males for biomedical research Studies: a major research challenge.

Journal Article J Natl Med Assoc · June 2011 The health and well-being of all individuals, independent of race, ethnicity, or gender, is a significant public health concern. Despite many improvements in the status of minority health, African American males continue to have the highest age-adjusted mo ... Full text Link to item Cite

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Journal Article PLoS One · April 20, 2011 Fuchs endothelial corneal dystrophy (FECD) is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autoso ... Full text Link to item Cite

Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.

Journal Article Ophthalmology · February 2011 OBJECTIVE: To determine susceptibility genes for high myopia in Singaporean Chinese. DESIGN: A meta-analysis of 2 genome-wide association (GWA) datasets in Chinese and a follow-up replication cohort in Japanese. PARTICIPANTS AND CONTROLS: Two independent d ... Full text Link to item Cite

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Journal Article Mol Vis · 2011 PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glauc ... Link to item Cite

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

Journal Article Nat Genet · October 2010 Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide associat ... Full text Link to item Cite

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Journal Article Invest Ophthalmol Vis Sci · September 2010 Featured Publication PURPOSE: Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study was con ... Full text Link to item Cite

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Journal Article Hum Mol Genet · July 1, 2010 Featured Publication Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial va ... Full text Link to item Cite

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Journal Article PLoS Genet · May 13, 2010 Featured Publication Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five co ... Full text Open Access Link to item Cite

Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese.

Journal Article Ophthalmology · May 2010 Featured Publication OBJECTIVE: To assess if natural genetic variation in hepatocyte growth factor (HGF) is associated with altered retinal vessel diameter. DESIGN: Two-stage cohort study. PARTICIPANTS AND CONTROLS: Discovery set (set 1, n = 682 children) and confirmatory set ... Full text Link to item Cite

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.

Journal Article Nucleic Acids Res · May 2010 Featured Publication Determination of copy number variants (CNVs) inferred in genome wide single nucleotide polymorphism arrays has shown increasing utility in genetic variant disease associations. Several CNV detection methods are available, but differences in CNV call thresh ... Full text Open Access Link to item Cite

Association of LOC339766 With High Myopia in Caucasian Family Cohorts

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2010 Link to item Cite

Copy Number Variants Associated With Refractive Error

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2010 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 Featured Publication 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

Factors influencing dietary protein sources in the PREMIER trial population.

Journal Article J Am Diet Assoc · February 2010 Featured Publication Previous research suggests that protein intake, particularly plant protein, may benefit blood pressure control. However, very little has been published regarding protein sources in diets of US adults and factors influencing these choices. The purpose of th ... Full text Link to item Cite

Statistical analysis of genome-wide association studies for myopia

Chapter · January 1, 2010 Genome wide association (GWA) studies have become a powerful approach for identifying genetic loci or susceptibility genes for common complex diseases.While the number of susceptibility loci identified by GWA studies is increasing, GWA studies for myopia a ... Full text Cite

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Journal Article Am J Hum Genet · January 2010 Featured Publication Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying g ... Full text Link to item Cite

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Journal Article PLoS genetics · 2010 Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five ... Full text Cite

COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.

Journal Article Invest Ophthalmol Vis Sci · September 2009 Featured Publication PURPOSE: Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COL1A1 and COL2A1 gene polymorphisms were reported to be associated with high-grade and common myopia, respectively. This study was conducted to investigate ... Full text Link to item Cite

A regression-based association test for case-control studies that uses inferred ancestral haplotype similarity.

Journal Article Ann Hum Genet · September 2009 Featured Publication Association methods based on haplotype similarity (HS) can overcome power and stability issues encountered in standard haplotype analyses. Current HS methods can be generally classified into evolutionary and two-sample approaches. We propose a new regressi ... Full text Link to item Cite

An international collaborative family-based whole-genome linkage scan for high-grade myopia.

Journal Article Invest Ophthalmol Vis Sci · July 2009 Featured Publication PURPOSE: Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphis ... Full text Link to item Cite

Drawing inferences about the coancestry coefficient.

Journal Article Theor Popul Biol · June 2009 Featured Publication The coancestry coefficient, also known as the population structure parameter, is of great interest in population genetics. It can be thought of as the intraclass correlation of pairs of alleles within populations and it can serve as a measure of genetic di ... Full text Link to item Cite

Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population.

Journal Article Mol Vis · May 20, 2009 Featured Publication INTRODUCTION: Hepatocyte growth factor (HGF) and hepatocyte growth factor receptor (C-MET) genes have previously been reported to be associated with myopia in Asian family-based and case-control association studies, respectively. We examined whether these ... Link to item Cite

Association test for X-linked QTL in family-based designs.

Journal Article Am J Hum Genet · April 2009 Featured Publication Family-based association methods for detecting quantitative trait loci (QTL) have been developed primarily for autosomes, and comparable methods for X-linked QTL have received less attention. We have developed a family-based association test for quantitati ... Full text Link to item Cite

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Journal Article Invest Ophthalmol Vis Sci · April 2009 Featured Publication PURPOSE: X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors in ... Full text Link to item Cite

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Journal Article Invest Ophthalmol Vis Sci · March 2009 Featured Publication PURPOSE: To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 ... Full text Link to item Cite

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

Journal Article Am J Hum Genet · January 2009 Featured Publication Only Apolipoprotein E polymorphisms have been consistently associated with the risk of late-onset Alzheimer disease (LOAD), but they represent only a minority of the underlying genetic effect. To identify additional LOAD risk loci, we performed a genome-wi ... Full text Link to item Cite

Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes.

Journal Article Immunol Res · 2009 Featured Publication Autoimmune thyroid disease occurs in some complete DiGeorge anomaly patients after thymus transplantation. This study was designed to assess the effect of culture of thymus tissue on the expression of genes involved in the development of autoimmunity. The ... Full text Link to item Cite

Myocilin polymorphisms and high myopia in subjects of European origin.

Journal Article Mol Vis · 2009 Featured Publication PURPOSE: Three previous studies have tested for an association between high myopia and polymorphisms in the open angle glaucoma gene, myocilin (MYOC), all in subjects of Chinese ethnicity. In two of the studies, a significant association was found while in ... 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 Featured Publication 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

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

Journal Article Osteoarthritis Cartilage · September 2008 Featured Publication 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

Factors affecting success of thymus transplantation for complete DiGeorge anomaly.

Journal Article Am J Transplant · August 2008 Featured Publication Thymus transplantation shows promise for the treatment of athymia in complete DiGeorge anomaly. This report reviews the effects of dose of thymus tissue, ABO compatibility, HLA matching, culture conditions, age of donor and immunosuppression of recipient o ... Full text Link to item Cite

Acute kidney injury and chronic kidney disease after cardiac surgery.

Journal Article Adv Chronic Kidney Dis · July 2008 Kidney dysfunction is common after cardiac surgery and predicts mortality risk and poorer long-term outcome, particularly when acute injury superimposes upon chronic kidney disease. Numerous insults contribute to perioperative renal impairment including ma ... Full text Link to item Cite

EMK: a novel program for family-based allelic and genotypic association tests on quantitative traits.

Journal Article Ann Hum Genet · May 2008 Featured Publication The QTDT program is a widely-used program for analyzing quantitative trait data, but the methods mainly test allelic association. Since the genotype of a marker is a direct observation for an individual, it is of interest to assess association at the genot ... Full text Link to item Cite

X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.

Journal Article Genet Epidemiol · May 2008 Featured Publication Recently, there has been interest in family-based tests of association to identify X-chromosome genes. However, none of the approaches allow for estimation of genetic risks. We propose a likelihood approach to estimate disease-related marker relative risks ... Full text Link to item Cite

Use of allograft biopsies to assess thymopoiesis after thymus transplantation.

Journal Article J Immunol · May 1, 2008 Featured Publication Thymus allograft biopsies were performed in athymic infants with complete DiGeorge anomaly after thymus transplantation to assess whether the thymus allograft tissue was able to support thymopoiesis. Forty-four consecutive infants were treated with postnat ... Full text Link to item Cite

Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

Journal Article Mol Vis · March 4, 2008 Featured Publication PURPOSE: The membrane-type frizzled-related protein (MFRP) gene is selectively expressed in the retinal pigment epithelium and ciliary body, and mutations of this gene cause nanophthalmos. The MFRP gene may not be essential for retinal function but has bee ... Link to item Cite

Gene-gene interaction between FGF20 and MAOB in Parkinson disease.

Journal Article Ann Hum Genet · March 2008 Featured Publication The fibroblast growth factor 20 (FGF20) and monoamine oxidase B (MAOB) genes are associated with Parkinson Disease (PD) risk and both are in the dopamine bio-pathway. Therefore, we investigated the joint effect between polymorphisms in the FGF20 and MAOB g ... Full text Link to item Cite

Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly.

Journal Article Clin Immunol · March 2008 Featured Publication Thymus transplantation in subjects with complete DiGeorge anomaly using postnatal allogeneic HLA-nonmatched cultured thymus tissue provides immunoreconstitution. Tolerance of the newly developed T cells toward the donor thymus has not previously been studi ... Full text Link to item Cite

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Journal Article Am J Hum Genet · February 2008 Featured Publication Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growth factor 20 (FGF20) at 8p21.3-22 was identified as a risk fact ... Full text Link to item Cite

Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations.

Journal Article Genet Epidemiol · December 2007 Featured Publication A complex web of gene-gene and gene-environment interactions likely underlies late-onset disease development. We compared conditional logistic regression (CLR) and generalized estimating equations (GEE) in modeling such interactions in pedigrees with missi ... Full text Link to item Cite

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal Article Mol Cell Neurosci · November 2007 Featured Publication APOE4 allele is a major risk factor for late-onset Alzheimer disease (AD). The mechanism of action of APOE in AD remains unclear. To study the effects of APOE alleles on gene expression in AD, we have analyzed the gene transcription patterns of human hippo ... Full text Link to item Cite

Investigation of the PARK10 gene in Parkinson disease.

Journal Article Ann Hum Genet · September 2007 Featured Publication Two recent association mapping studies in Parkinson disease (PD) reported three candidate genes for the PARK10 locus: EIF2B3 as a modifier of age-at-onset of PD (min P= 0.0004) and HIVEP3 as a PD risk gene (P < or = 0.006) (Oliveira et al. 2005); and LOC20 ... Full text Link to item Cite

X-APL: an improved family-based test of association in the presence of linkage for the X chromosome.

Journal Article Am J Hum Genet · January 2007 Featured Publication Family-based association methods have been developed primarily for autosomal markers. The X-linked sibling transmission/disequilibrium test (XS-TDT) and the reconstruction-combined TDT for X-chromosome markers (XRC-TDT) are the first association-based meth ... Full text Link to item Cite

Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.

Journal Article Mov Disord · December 2006 Featured Publication Monoamine oxidase (MAO) is an enzyme regulating metabolism of neurotransmitters such as dopamine. Two distinct forms of enzyme, encoded by genes MAOA and MAOB located on the X chromosome, have been considered as possible factors in the pathogenesis of Park ... Full text Link to item Cite

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.

Journal Article J AAPOS · December 2006 Featured Publication BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ... Full text Link to item Cite

A comparative analysis of the information content in long and short SAGE libraries.

Journal Article BMC Bioinformatics · November 16, 2006 BACKGROUND: Serial Analysis of Gene Expression (SAGE) is a powerful tool to determine gene expression profiles. Two types of SAGE libraries, ShortSAGE and LongSAGE, are classified based on the length of the SAGE tag (10 vs. 17 basepairs). LongSAGE librarie ... Full text Link to item Cite

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease.

Journal Article Ann Neurol · September 2006 Featured Publication OBJECTIVE: Inducible nitric oxide synthase, a protein product of NOS2A, generates nitric oxide as a defense mechanism, but excessive levels threaten cellular survival. NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with c ... Full text Link to item Cite

Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.

Journal Article Neurobiol Aging · August 2006 We previously reported a linkage region on chromosome 10q for age-at-onset (AAO) of Alzheimer (AD) and Parkinson (PD) diseases. Glutathione S-transferase, omega-1 (GSTO1) and the adjacent gene GSTO2, located in this linkage region, were then reported to as ... Full text Link to item Cite

Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring.

Journal Article Genet Epidemiol · April 2006 Featured Publication Linkage disequilibrium mapping of quantitative traits is a powerful method for dissecting the genetic etiology of complex phenotypes. Quantitative traits, however, often exhibit characteristics that make their use problematic. For example, the distribution ... Full text Link to item Cite

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal Article Neurobiol Dis · February 2006 Featured Publication Apolipoprotein E4 (APOE4) allele is a major risk factor for late-onset familial and sporadic Alzheimer disease (AD). The mechanism of action of APOE in the etiology of AD remains unclear. Using gene expression (microarray) analysis of human hippocampus fro ... Full text Link to item Cite

Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.

Journal Article BMC Genet · December 30, 2005 Featured Publication Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying va ... Full text Open Access Link to item Cite

Sample Size and Power

Chapter · October 7, 2005 Full text Cite

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.

Journal Article J Med Genet · October 2005 Featured Publication BACKGROUND: APOE is the only gene that has been consistently replicated as a risk factor for late onset Alzheimer's disease. Several recent studies have identified linkage to chromosome 10 for both risk and age of onset, suggesting that this region harbour ... Full text Link to item Cite

Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.

Journal Article Mov Disord · October 2005 Featured Publication Genomic convergence is a multistep approach that combines gene expression with genomic linkage to identify and prioritize susceptibility genes for complex disease. As a first step, we previously performed linkage analysis on 174 multiplex Parkinson's disea ... Full text Link to item Cite

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Journal Article Am J Hum Genet · August 2005 Featured Publication We previously reported a linkage region on chromosome 1p (LOD = 3.41) for genes controlling age at onset (AAO) in Parkinson disease (PD). This region overlaps with the previously reported PARK10 locus. To identify the gene(s) associated with AAO and risk o ... Full text Link to item Cite

Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism.

Journal Article Arch Neurol · June 2005 Featured Publication BACKGROUND: Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well underst ... Full text Link to item Cite

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Journal Article Hum Genet · June 2005 Featured Publication Inflammatory processes have been implicated in the cascade of events that lead to nerve cell death. In the nervous system, a number of genes involved in inflammation pathways are regulated post-transcriptionally via the interaction of their mRNAs with spec ... Full text Link to item Cite

Standardizing global gene expression analysis between laboratories and across platforms.

Journal Article Nat Methods · May 2005 To facilitate collaborative research efforts between multi-investigator teams using DNA microarrays, we identified sources of error and data variability between laboratories and across microarray platforms, and methods to accommodate this variability. RNA ... Full text Link to item Cite

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.

Journal Article Hum Hered · 2005 Featured Publication OBJECTIVES: Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies. METHOD: Using simulated two-generation families with and without parents, we condu ... Full text Link to item Cite

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Journal Article Neurogenetics · December 2004 Featured Publication Apolipoprotein E (APOE) is a confirmed risk factor for Alzheimer disease. APOE is also involved in several other neurodegenerative disorders, including Parkinson disease and multiple sclerosis. Previous studies of amyotrophic lateral sclerosis (Lou Gehrig ... Full text Link to item Cite

Articular hypermobility is a protective factor for hand osteoarthritis.

Journal Article Arthritis Rheum · July 2004 Featured Publication OBJECTIVE: Very few studies have evaluated the association of articular hypermobility and radiographic osteoarthritis (OA) in humans. We assessed hypermobility and its relationship to radiographic hand OA in a family-based study. METHODS: A total of 1,043 ... Full text Link to item Cite

Apolipoprotein E controls the risk and age at onset of Parkinson disease.

Journal Article Neurology · June 8, 2004 BACKGROUND: Similarities between Alzheimer disease (AD) and Parkinson disease (PD) suggest a possible role for apolipoprotein E (APOE) in PD. Most previous studies seeking to establish such a link used case-control datasets and results have been inconsiste ... Full text Link to item Cite

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.

Journal Article Hum Mol Genet · December 15, 2003 Featured Publication We previously reported genetic linkage of loci controlling age-at-onset in Alzheimer disease (AD) and Parkinson's disease (PD) to a 15 cM region on chromosome 10q. Given the large number of genes in this initial starting region, we applied the process of ' ... Full text Link to item Cite

Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage.

Journal Article Hum Mol Genet · March 15, 2003 Featured Publication We present a multifactorial, multistep approach called genomic convergence that combines gene expression with genomic linkage analysis to identify and prioritize candidate susceptibility genes for Parkinson's disease (PD). To initiate this process, we used ... Link to item Cite

Phylogenetic analysis of vertebrate lactate dehydrogenase (LDH) multigene families.

Journal Article J Mol Evol · May 2002 Featured Publication In this paper we analyzed 49 lactate dehydrogenase (LDH) sequences, mostly from vertebrates. The amino acid sequence differences were found to be larger for a human-killifish pair than a human-lamprey pair. This indicates that some protein sequence converg ... Full text Link to item Cite

Age at onset in two common neurodegenerative diseases is genetically controlled.

Journal Article Am J Hum Genet · April 2002 Featured Publication To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were found i ... Full text Link to item Cite

Paleo-demography of the Drosophila melanogaster subgroup: application of the maximum likelihood method.

Journal Article Genes Genet Syst · August 1999 Featured Publication The species divergence times and demographic histories of Drosophila melanogaster and its three sibling species, D. mauritiana, D. simulans, and D. yakuba, were investigated using a maximum likelihood (ML) method. Thirty-nine orthologous loci for these fou ... Full text Link to item Cite

Molecular clock and recombination in primate Mhc genes.

Journal Article Immunol Rev · February 1999 Featured Publication To set an accurate chronological framework to the evolution of primate class I and II genes in the major histocompatibility complex (Mhc), the rate of silent nucleotide substitutions in exons and introns is examined for various cDNA and genome sequences cu ... Full text Link to item Cite

The neutral theory and natural selection in the HLA region.

Journal Article Front Biosci · April 27, 1998 Featured Publication Based on available DNA sequence data in the HLA region of 4 Mb, we review the degree of polymorphism at 39 loci of which most are involved in the immune system. The extent of nucleotide differences per silent site differs greatly from locus to locus. It is ... Full text Link to item Cite