作者
David Ellinghaus, Luke Jostins, Sarah L Spain, Adrian Cortes, Jörn Bethune, Buhm Han, Yu Rang Park, Soumya Raychaudhuri, Jennie G Pouget, Matthias Hübenthal, Trine Folseraas, Yunpeng Wang, Tonu Esko, Andres Metspalu, Harm-Jan Westra, Lude Franke, Tune H Pers, Rinse K Weersma, Valerie Collij, Mauro D'Amato, Jonas Halfvarson, Anders Boeck Jensen, Wolfgang Lieb, Franziska Degenhardt, Andreas J Forstner, Andrea Hofmann, International IBD Genetics Consortium (IIBDGC), International Genetics of Ankylosing Spondylitis Consortium (IGAS), International PSC Study Group (IPSCSG), Genetic Analysis of Psoriasis Consortium (GAPC), Psoriasis Association Genetics Extension (PAGE), Stefan Schreiber, Ulrich Mrowietz, Brian D Juran, Konstantinos N Lazaridis, Søren Brunak, Anders M Dale, Richard C Trembath, Stephan Weidinger, Michael Weichenthal, Eva Ellinghaus, James T Elder, Jonathan NWN Barker, Ole A Andreassen, Dermot P McGovern, Tom H Karlsen, Jeffrey C Barrett, Miles Parkes, Matthew A Brown, Andre Franke
发表日期
2016/5
期刊
Nature genetics
卷号
48
期号
5
页码范围
510-518
出版商
Nature Publishing Group US
简介
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification …
学术搜索中的文章
D Ellinghaus, L Jostins, SL Spain, A Cortes, J Bethune… - Nature genetics, 2016
D Ellinghaus, L Jostins, SL Spain, A Cortes, J Bethune… - Nat Genet, 2016