A new perspective of integrative genome-wide association analysis considering trans eSNP effect

Abstract

Most loci discovered through genome-wide association analyses are predicted to affect gene expression, the integrative approach of genome-wide analysis with gene expression data is becoming essential procedure for discovering genetic effect of disease development. Many studies have been performed to discover significant SNP-gene associations, but most of them are limited to consider only cis-associations and neglect trans-territory. In this study, we explored the effect of trans-eSNP associations that may underlie the alternation of gene expressions. Through the integrative genome-wide association analysis considering the entire SNP-gene associations, we identified numerous trans associations which are significantly associated with gene expression, even more than cis associations in quantity and significance. Our findings revealed the necessity of reconsidering trans-association effect from integrative genome-wide association analysis and provided novel insights to find undiscovered genetic causalities.