Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD

A genetic variant in the LDLRpromoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

(2014) Isabel De Castro-Orós et al.   BMC Medical Genomics

Mutual Effect of rs688 and rs5925 in Regulating Low-Density Lipoprotein Receptor Splicing

(2014) Jiann-Der Lee et al.   DNA AND CELL BIOLOGY

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

(2014) Amna Khamis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function

(2013) Feng Gao et al.   HUMAN MOLECULAR 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

Modification of Enhancer Chromatin: What, How, and Why?

(2013) Eliezer Calo et al.   MOLECULAR CELL

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity

(2011) L. Song et al.   GENOME RESEARCH

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

(2011) John F Peden et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile

(2010) N. Martinelli et al.   BLOOD

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

(2010) Tanya M. Teslovich et al.   NATURE

Histone H3K27ac separates active from poised enhancers and predicts developmental state

(2010) M. P. Creyghton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Variants Associated With Myocardial Infarction Risk Factors in Over 8000 Individuals From Five Ethnic Groups

(2009) Sonia S. Anand et al.   Circulation-Cardiovascular Genetics

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS

UCSC genome browser tutorial

(2008) Ann S. Zweig et al.   GENOMICS

Characterization of DNA-Binding Proteins Using Multiplexed Competitor EMSA

(2008) Andrew J.P. Smith et al.   JOURNAL OF MOLECULAR BIOLOGY

Progress and challenges in genome-wide association studies in humans

(2008) Peter Donnelly   NATURE

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

(2008) Yurii S Aulchenko et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS