Journal article

Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling

MAR Ferreira, R Jansen, G Willemsen, B Penninx, LM Bain, CT Vicente, JA Revez, MC Matheson, J Hui, JY Tung, S Baltic, P Le Souëf, GW Montgomery, NG Martin, CF Robertson, A James, PJ Thompson, DI Boomsma, JL Hopper, DA Hinds Show all

Journal of Allergy and Clinical Immunology | MOSBY-ELSEVIER | Published : 2017

Abstract

Background Hundreds of genetic variants are thought to contribute to variation in asthma risk by modulating gene expression. Methods that increase the power of genome-wide association studies (GWASs) to identify risk-associated variants are needed. Objective We sought to develop a method that aggregates the evidence for association with disease risk across expression quantitative trait loci (eQTLs) of a gene and use this approach to identify asthma risk genes. Methods We developed a gene-based test and software package called EUGENE that (1) is applicable to GWAS summary statistics; (2) considers both cis- and trans-eQTLs; (3) incorporates eQTLs identified in different tissues; and (4) uses ..

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University of Melbourne Researchers