A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study.

European Journal of Human Genetics : EJHG
Dan ZhouMaode Lai

Abstract

Although numbers of genome-wide association studies (GWAS) have been performed for serum lipid levels, limited heritability has been explained. Studies showed that combining data from GWAS and expression quantitative trait loci (eQTLs) signals can both enhance the discovery of trait-associated SNPs and gain a better understanding of the mechanism. We performed an annotation-based, multistage genome-wide screening for serum-lipid-level-associated loci in totally 6863 Han Chinese. A serum high-density lipoprotein cholesterol (HDL-C) associated variant rs1880118 (hg19 chr7:g. 6435220G>C) was replicated (Pcombined = 1.4E-10). rs1880118 was associated with DAGLB (diacylglycerol lipase, beta) expression levels in subcutaneous adipose tissue (P = 5.9E-42) and explained 47.7% of the expression variance. After the replication, an active segment covering variants tagged by rs1880118 near 5' of DAGLB was annotated using histone modification and transcription factor binding signals. The luciferase report assay revealed that the segment containing the minor alleles showed increased transcriptional activity compared with segment contains the major alleles, which was consistent with the eQTL analyses. The expression-trait association tests in...Continue Reading

References

Apr 12, 2003·International Journal of Epidemiology·George Davey Smith, Shah Ebrahim
Apr 13, 2004·International Journal of Epidemiology·George Davey Smith, Shah Ebrahim
May 9, 2008·PLoS Biology·Eric E SchadtRoger Ulrich
May 22, 2009·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Iffat RahmanPatrik K E Magnusson
Nov 26, 2009·Bioinformatics·Eric R GamazonNancy J Cox
Dec 16, 2011·Bioinformatics·Kai XiaFred A Wright
Feb 7, 2012·Nature·Jacob F DegnerJonathan K Pritchard
Sep 4, 2012·Nature Genetics·Elin GrundbergUNKNOWN Multiple Tissue Human Expression Resource (MuTHER) Consortium
Oct 30, 2012·Nature Chemical Biology·Ku-Lung HsuBenjamin F Cravatt
May 30, 2013·Nature Genetics·UNKNOWN GTEx Consortium
Oct 8, 2013·Nature Genetics·Cristen J WillerUNKNOWN Global Lipids Genetics Consortium
Nov 12, 2013·American Journal of Human Genetics·Stacey L EdwardsAlison M Dunning
Mar 26, 2014·Trends in Genetics : TIG·Xiaoyang ZhangMathieu Lupien
Oct 1, 2014·Nature Communications·Lijing YaoPeggy J Farnham
Feb 20, 2015·Nature·UNKNOWN Roadmap Epigenomics ConsortiumManolis Kellis
Feb 25, 2015·Nature Reviews. Genetics·Frank W Albert, Leonid Kruglyak
Jul 15, 2015·Human Molecular Genetics·Feng Zhang, James R Lupski
Jul 15, 2015·Human Molecular Genetics·Sarah L Spain, Jeffrey C Barrett
Aug 11, 2015·Nature Genetics·Eric R GamazonHae Kyung Im
Nov 10, 2015·Nature Genetics·Kyle J GaultonUNKNOWN DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Feb 9, 2016·Nature Genetics·Alexander GusevBogdan Pasaniuc
Apr 30, 2016·Science·Yang I LiJonathan K Pritchard

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Datasets Mentioned

BETA
GSE26106
GSE9588

Methods Mentioned

BETA
immunoprecipitation
nucleic acid extraction
chip
genotyping
ChIP-seq
transfections
Assay
PCR

Software Mentioned

EIGENSOFT
Locuszoom
UCSC genome browser
MuTHER
PLINK

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