Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis
Nature genetics, 2010•nature.com
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 …
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 …
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.
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