Biliary Cirrhosis, Primary, 3
Description
Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).
MappingIn a 2-stage genomewide association study involving a total of 536 patients with primary biliary cirrhosis and 1,536 controls, Hirschfield et al. (2009) found significant association between PBC and rs3790567 at the IL12RB2 locus (601642) on chromosome 1p31.2 (combined p = 2.76 x 10(-11); odds ratio, 1.51).