Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Coding Variants and Breast Cancer Risk: Evaluation of Susceptibility Loci Identified in Genome-Wide Association Studies

(2014) Y. Zhang et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Pnpla3I148Mknockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis

(2014) Eriks Smagris et al.   HEPATOLOGY

Elevated Circulating Pigment Epithelium-Derived Factor Predicts the Progression of Diabetic Nephropathy in Patients With Type 2 Diabetes

(2014) Elaine Hui et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

(2014) Oddgeir L Holmen et al.   NATURE GENETICS

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

(2014) Julia Kozlitina et al.   NATURE GENETICS

Illumina human exome genotyping array clustering and quality control

(2014) Yan Guo et al.   Nature Protocols

Epidemiological studies of CHD and the evolution of preventive cardiology

(2014) Nathan D. Wong   Nature Reviews Cardiology

Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

(2014) Anders Berg Jørgensen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Meta-analysis of gene-level tests for rare variant association

(2013) Dajiang J Liu et al.   NATURE GENETICS

Common variants associated with plasma triglycerides and risk for coronary artery disease

(2013) Ron Do et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis

(2013) Quentin M. Anstee et al.   Nature Reviews Gastroenterology & Hepatology

The genetics of NAFLD

(2013) Quentin M. Anstee et al.   Nature Reviews Gastroenterology & Hepatology

Recent human adaptation: genomic approaches, interpretation and insights

(2013) Laura B. Scheinfeldt et al.   NATURE REVIEWS GENETICS

Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium

(2013) Megan L. Grove et al.   PLoS One

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained

(2013) Ying Wu et al.   PLoS Genetics

Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro

(2012) Carlo Pirazzi et al.   JOURNAL OF HEPATOLOGY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

(2012) Robert A Scott et al.   NATURE GENETICS

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

(2012) Alisa K Manning et al.   NATURE GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant

(2012) Colin N. A. Palmer et al.   PLoS One

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Plasma Level of Fibroblast Growth Factor 21 Is an Independent Predictor of Type 2 Diabetes: A 5.4-year population-based prospective study in Chinese subjects

(2011) C. Chen et al.   DIABETES CARE

Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease

(2011) Silvia Sookoian et al.   HEPATOLOGY

Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

(2011) Miao-Xin Li et al.   HUMAN GENETICS

Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits

(2011) Elizabeth K. Speliotes et al.   PLoS Genetics

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PNPLA3variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease

(2010) Elizabeth K. Speliotes et al.   HEPATOLOGY

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Genome-wide association studies in diverse populations

(2010) Noah A. Rosenberg et al.   NATURE REVIEWS GENETICS

A feed-forward loop amplifies nutritional regulation of PNPLA3

(2010) Yongcheng Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis

(2009) Shaoqing He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS

Transcriptional regulation of phosphatidylcholine biosynthesis

(2008) Hiroyuki Sugimoto et al.   PROGRESS IN LIPID RESEARCH

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE