@article{768b0251963d4073b358f353b6627ade,
title = "Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis",
abstract = "We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P < 1 × 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 × 10-13), 17q12-21 (combined P = 3.50 × 10-13) and MMEL1 (combined P = 3.15 × 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.",
author = "Hirschfield, {Gideon M.} and Xiangdong Liu and Younghun Han and Gorlov, {Ivan P.} and Yan Lu and Chun Xu and Yue Lu and Wei Chen and Juran, {Brian D.} and Catalina Coltescu and Mason, {Andrew L.} and Piotr Milkiewicz and Myers, {Robert P.} and Odin, {Joseph A.} and Luketic, {Velimir A.} and Danute Speiciene and Catherine Vincent and Cynthia Levy and Gregersen, {Peter K.} and Jinyi Zhang and Heathcote, {E. Jenny} and Lazaridis, {Konstantinos N.} and Amos, {Christopher I.} and Siminovitch, {Katherine A.}",
note = "Funding Information: This research was supported by grants from the Canadian Institutes for Health Research (MOP 74621), the Ontario Research Fund (RE01-061), the Canadian Primary Biliary Cirrhosis Society, the Canadian Foundation for Innovation, the Ben and Hilda Katz Charitable Foundation, the US National Institutes of Health (K23 DK68290, RO3 DK78527 and RO1 DK80670), the American Gastroenterological Association and the A.J. and Sigismunda Palumbo Charitable Trust. K.A.S. is a recipient of a Canada Research Chair award. We thank all the study subjects and supporting physicians as well as the technical staff of the University Health Network Analytical Genetics Technology Centre for their assistance in this research.",
year = "2010",
month = aug,
doi = "10.1038/ng.631",
language = "English (US)",
volume = "42",
pages = "655--657",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "8",
}