作者
Isis Ricaño-Ponce, Daria V Zhernakova, Patrick Deelen, Oscar Luo, Xingwang Li, Aaron Isaacs, Juha Karjalainen, Jennifer Di Tommaso, Zuzanna Agnieszka Borek, Maria M Zorro, Javier Gutierrez-Achury, Andre G Uitterlinden, Albert Hofman, Joyce van Meurs, Bastiaan T Heijmans, Peter AC't Hoen, Rick Jansen, Lude Franke, Dorret I Boomsma, René Pool, Jenny van Dongen, Jouke J Hottenga, Marleen MJ van Greevenbroek, Coen DA Stehouwer, Carla JH van der Kallen, Casper G Schalkwijk, Cisca Wijmenga, Alexandra Zhernakova, Ettje F Tigchelaar, P Eline Slagboom, Marian Beekman, Joris Deelen, Diana van Heemst, Jan H Veldink, Leonard H van den Berg, Cornelia M van Duijn, Bert A Hofman, André G Uitterlinden, P Mila Jhamai, Michael Verbiest, H Eka D Suchiman, Marijn Verkerk, Ruud van der Breggen, Jeroen van Rooij, Nico Lakenberg, Hailiang Mei, Maarten van Iterson, Michiel van Galen, Jan Bot, Peter van't Hof, Irene Nooren, Matthijs Moed, Martijn Vermaat, René Luijk, Marc Jan Bonder, Freerk van Dijk, Wibowo Arindrarto, Szymon M Kielbasa, Morris A Swertz, Erik W van Zwet, Mihai G Netea, Iris H Jonkers, Sebo Withoff, Yang Li, Yijun Ruan, Vinod Kumar, Lifelines Cohort Study
发表日期
2016/4/1
期刊
Journal of autoimmunity
卷号
68
页码范围
62-74
出版商
Academic Press
简介
Genome-wide association and fine-mapping studies in 14 autoimmune diseases (AID) have implicated more than 250 loci in one or more of these diseases. As more than 90% of AID-associated SNPs are intergenic or intronic, pinpointing the causal genes is challenging. We performed a systematic analysis to link 460 SNPs that are associated with 14 AID to causal genes using transcriptomic data from 629 blood samples. We were able to link 71 (39%) of the AID-SNPs to two or more nearby genes, providing evidence that for part of the AID loci multiple causal genes exist. While 54 of the AID loci are shared by one or more AID, 17% of them do not share candidate causal genes. In addition to finding novel genes such as ULK3, we also implicate novel disease mechanisms and pathways like autophagy in celiac disease pathogenesis. Furthermore, 42 of the AID SNPs specifically affected the expression of 53 non …
学术搜索中的文章
I Ricaño-Ponce, DV Zhernakova, P Deelen, O Luo, X Li… - Journal of autoimmunity, 2016