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Nat Genet. 2010 Aug;42(8):655-7. doi: 10.1038/ng.631. Epub 2010 Jul 18.

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

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  • 1Liver Centre, Toronto Western Hospital, Toronto, Ontario, Canada.

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.

PMID:
20639879
[PubMed - indexed for MEDLINE]
PMCID:
PMC2929126
Free PMC Article

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