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- Title
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
- Authors
Hirschfield, Gideon M; Liu, Xiangdong; Han, Younghun; Gorlov, Ivan P; Lu, Yan; Xu, Chun; Lu, Yue; Chen, Wei; Juran, Brian D; Coltescu, Catalina; Mason, Andrew L; Milkiewicz, Piotr; Myers, Robert P; Odin, Joseph A; Luketic, Velimir A; Speiciene, Danute; Vincent, Catherine; Levy, Cynthia; Gregersen, Peter K; Zhang, Jinyi; Heathcote, E Jenny; Lazaridis, Konstantinos N; Amos, Christopher I; Siminovitch, Katherine A
- Abstract
We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P < 1 x 10(-4)) identified in a previous genome-wide association study. Combined analysis of the genome-wide association and replication datasets identified IRF5-TNPO3 (combined P = 8.66 x 10(-13)), 17q12-21 (combined P = 3.50 x 10(-13)) and MMEL1 (combined P = 3.15 x 10(-8)) as new primary biliary cirrhosis susceptibility loci. Fine-mapping studies showed that a single variant accounts for the IRF5-TNPO3 association. As these loci are implicated in other autoimmune conditions, these findings confirm genetic overlap among such diseases.
- Publication
Nature genetics, 2010, Vol 42, Issue 8, p655
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.631