Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation

Damien C Croteau-Chonka, Angela J Rogers, Towfique Raj, Michael J McGeachie, Weiliang Qiu, John P Ziniti, Benjamin J Stubbs, Liming Liang, Fernando D Martinez, Robert C Strunk, Robert F Lemanske, Andrew H Liu, Barbara E Stranger, Vincent J Carey and Benjamin A Raby

PLOS ONE, 2015, vol. 10, issue 10, 1-20

Abstract: Disease-associated loci identified through genome-wide association studies (GWAS) frequently localize to non-coding sequence. We and others have demonstrated strong enrichment of such single nucleotide polymorphisms (SNPs) for expression quantitative trait loci (eQTLs), supporting an important role for regulatory genetic variation in complex disease pathogenesis. Herein we describe our initial efforts to develop a predictive model of disease-associated variants leveraging eQTL information. We first catalogued cis-acting eQTLs (SNPs within 100kb of target gene transcripts) by meta-analyzing four studies of three blood-derived tissues (n = 586). At a false discovery rate

Date: 2015
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0140758

DOI: 10.1371/journal.pone.0140758

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