Polygenic determinants in extremes of high-density lipoprotein cholesterol

The High-Density Lipoprotein PuzzleSignificance

(2016) Robert S. Rosenson   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

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HDL mimetic CER-001 targets atherosclerotic plaques in patients

(2016) Kang He Zheng et al.   ATHEROSCLEROSIS

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

(2016) Sumeet A. Khetarpal et al.   Cell Metabolism

Genetics of Coronary Artery Disease

(2016) Ruth McPherson et al.   CIRCULATION RESEARCH

Whole-genome sequencing in French Canadians from Quebec

(2016) Cécile Low-Kam et al.   HUMAN GENETICS

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Diagnosis and treatment of high density lipoprotein deficiency

(2016) Ernst J. Schaefer et al.   PROGRESS IN CARDIOVASCULAR DISEASES

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

(2016) Paolo Zanoni et al.   SCIENCE

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

(2016) Raul D Santos et al.   Lancet Diabetes & Endocrinology

In SilicoPrediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

(2015) Claire Browne et al.   ANNALS OF HUMAN GENETICS

Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know?

(2015) Amélie Bonnefond et al.   Cell Metabolism

HDL re-examined

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Targeted next-generation sequencing to diagnose disorders of HDL cholesterol

(2015) Singh N. Sadananda et al.   JOURNAL OF LIPID RESEARCH

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

Regulation of lipoprotein lipase by Angptl4

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Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels

(2013) Mohammad Mahdi Motazacker et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Impact of HDL genetic risk scores on coronary artery calcified plaque and mortality in individuals with type 2 diabetes from the Diabetes Heart Study

(2013) Laura M Raffield et al.   Cardiovascular Diabetology

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

(2013) Alanna C Morrison et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Lipids and Lipoproteins and Risk of Different Vascular Events in the MRC/BHF Heart Protection Study

(2012) Sarah Parish et al.   CIRCULATION

The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans

(2012) Roshni R. Singaraja et al.   Circulation-Cardiovascular Genetics

European Guidelines on cardiovascular disease prevention in clinical practice (version 2012): The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of nine societies and by invited experts) * Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR)

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Lipid-Related Markers and Cardiovascular Disease Prediction

(2012)   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

(2012) Benjamin F Voight et al.   LANCET

Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

(2012) Ian Tietjen et al.   PLoS One

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

(2011) Adriaan G. Holleboom et al.   HUMAN MUTATION

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol

(2010) C. Candini et al.   ATHEROSCLEROSIS

Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK

(2010) Marie P. Fogarty et al.   HUMAN MOLECULAR GENETICS

Genetic causes of high and low serum HDL-cholesterol

(2010) Daphna Weissglas-Volkov et al.   JOURNAL OF LIPID RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Plasma lipoproteins: genetic influences and clinical implications

(2009) Robert A. Hegele   NATURE REVIEWS GENETICS