作者
Harm-Jan Westra, Marjolein J Peters, Tõnu Esko, Hanieh Yaghootkar, Claudia Schurmann, Johannes Kettunen, Mark W Christiansen, Benjamin P Fairfax, Katharina Schramm, Joseph E Powell, Alexandra Zhernakova, Daria V Zhernakova, Jan H Veldink, Leonard H Van den Berg, Juha Karjalainen, Sebo Withoff, André G Uitterlinden, Albert Hofman, Fernando Rivadeneira, Peter AC 't Hoen, Eva Reinmaa, Krista Fischer, Mari Nelis, Lili Milani, David Melzer, Luigi Ferrucci, Andrew B Singleton, Dena G Hernandez, Michael A Nalls, Georg Homuth, Matthias Nauck, Dörte Radke, Uwe Völker, Markus Perola, Veikko Salomaa, Jennifer Brody, Astrid Suchy-Dicey, Sina A Gharib, Daniel A Enquobahrie, Thomas Lumley, Grant W Montgomery, Seiko Makino, Holger Prokisch, Christian Herder, Michael Roden, Harald Grallert, Thomas Meitinger, Konstantin Strauch, Yang Li, Ritsert C Jansen, Peter M Visscher, Julian C Knight, Bruce M Psaty, Samuli Ripatti, Alexander Teumer, Timothy M Frayling, Andres Metspalu, Joyce BJ Van Meurs, Lude Franke
发表日期
2013/10
期刊
Nature genetics
卷号
45
期号
10
页码范围
1238-1243
出版商
Nature Publishing Group US
简介
Identifying the downstream effects of disease-associated SNPs is challenging. To help overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in non-transformed peripheral blood samples from 5,311 individuals with replication in 2,775 individuals. We identified and replicated trans eQTLs for 233 SNPs (reflecting 103 independent loci) that were previously associated with complex traits at genome-wide significance. Some of these SNPs affect multiple genes in trans that are known to be altered in individuals with disease: rs4917014, previously associated with systemic lupus erythematosus (SLE), altered gene expression of C1QB and five type I interferon response genes, both hallmarks of SLE,,. DeepSAGE RNA sequencing showed that rs4917014 strongly alters the 3′ UTR levels of IKZF1 in cis, and chromatin immunoprecipitation and sequencing analysis of the trans …
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HJ Westra, MJ Peters, T Esko, H Yaghootkar… - Nature genetics, 2013