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Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies

Authors :
Roby Joehanes
Daniel Levy
Quang Tri Nguyen
Poching Liu
Peter J. Munson
Xiaoling Zhang
Andrew D. Johnson
Josée Dupuis
Nataliya Sharopova
Kahraman Tanriverdi
Michael Feolo
Jane E. Freedman
Nancy L. Heard-Costa
Han Chen
Alejandro A. Schäffer
Richard J. Wang
Saixia Ying
Kimberly Woodhouse
Tianxiao Huan
Anne Sturcke
Chen Yao
Christopher J. O'Donnell
Nalini Raghavachari
Cumhur Y Demirkale
Source :
Genome Biology
Publication Year :
2016

Abstract

Background Identification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2. Results We detected over 19,000 independent lead cis-eQTLs and over 6000 independent lead trans-eQTLs, targeting over 10,000 gene targets (eGenes), with a false discovery rate (FDR)

Details

ISSN :
1474760X
Volume :
18
Issue :
1
Database :
OpenAIRE
Journal :
Genome biology
Accession number :
edsair.doi.dedup.....ff4c3cb1edef0208a1b83c0ac407b0ac