Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

Authors

Gideon M. Hirschfield
Xiangdong Liu
Younghun Han
Ivan P. Gorlov
Yan Lu
Chun Xu, The University of Texas Rio Grande Valley
Yue Lu
Wei Chen
Brian D. Juran
Catalina Coltescu

Document Type

Article

Publication Date

8-2010

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), 7q12-21 (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.

Comments

© 2010 Nature America, Inc. All rights reserved. Original published version available at https://doi.org/10.1038/ng.631

Recommended Citation

Hirschfield, G. M., Liu, X., Han, Y., Gorlov, I. P., Lu, Y., Xu, C., Lu, Y., Chen, W., Juran, B. D., Coltescu, C., Mason, A. L., Milkiewicz, P., Myers, R. P., Odin, J. A., Luketic, V. A., Speiciene, D., Vincent, C., Levy, C., Gregersen, P. K., Zhang, J., … Siminovitch, K. A. (2010). Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nature genetics, 42(8), 655–657. https://doi.org/10.1038/ng.631

Publication Title

Nature Genetics

DOI

10.1038/ng.631