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

Gideon M. Hirschfield, Xiangdong Liu, Younghun Han, Ivan P. Gorlov, Yan Lu, Chun Xu, Yue Lu, Wei Chen, Brian D. Juran, Catalina Coltescu, Andrew L. Mason, Piotr Milkiewicz, Robert P. Myers, Joseph A. Odin, Velimir A. Luketic, Danute Speiciene, Catherine Vincent, Cynthia Levy, Peter K. Gregersen, Jinyi ZhangE. Jenny Heathcote, Konstantinos N. Lazaridis, Christopher I. Amos, Katherine A. Siminovitch

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157 Scopus citations


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.

Original languageEnglish
Pages (from-to)655-657
Number of pages3
JournalNature Genetics
Issue number8
StatePublished - Aug 1 2010
Externally publishedYes


ASJC Scopus subject areas

  • Genetics

Cite this

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., ... Siminovitch, K. A. (2010). Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nature Genetics, 42(8), 655-657.