Article
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types.
Nature genetics - 1 Apr 2017
Chun Sung, Casparino Alexandra, Patsopoulos Nikolaos A, Croteau-Chonka Damien C, Raby Benjamin A, De Jager Philip L, Sunyaev Shamil R, Cotsapas Chris
Abstract excerpt
Most autoimmune-disease-risk effects identified by genome-wide association studies (GWAS) localize to open chromatin with gene-regulatory activity. GWAS loci are also enriched in expression quantitative trait loci (eQTLs), thus suggesting that most risk variants alter gene expression. However, because causal variants are difficult to identify, and cis-eQTLs occur frequently, it remains challenging to identify...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.