作者
Heather J Cordell, Younghun Han, George F Mells, Yafang Li, Gideon M Hirschfield, Casey S Greene, Gang Xie, Brian D Juran, Dakai Zhu, David C Qian, James AB Floyd, Katherine I Morley, Daniele Prati, Ana Lleo, Daniele Cusi, M Eric Gershwin, Carl A Anderson, Konstantinos N Lazaridis, Pietro Invernizzi, Michael F Seldin, Richard N Sandford, Christopher I Amos, Katherine A Siminovitch
发表日期
2015/9/22
期刊
Nature communications
卷号
6
期号
1
页码范围
8019
出版商
Nature Publishing Group UK
简介
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine–cytokine pathways, for which relevant therapies exist.
引用总数
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