Rs2287622

rs2287622 is a SNP in the ATP-binding cassette, sub-family B (MDR/TAP), member 11 ABCB11 gene. The more common (T) allele encodes a Val, while the rarer (C) allele encodes a Ala; this SNP is also known as V444A or c.1331T>C.

In two intrahepatic cholestasis of pregnancy (ICP) cohorts (333 UK, 158 continental Europe), rs2287622 was associated with ICP (allelic odds ratio for C vs T 1.7 (CI: 1.4-2.1, p<0.0001). In addition, (C;C) homozygotes were more likely to have ICP than (T;T) homozygotes with and odds ratio of 2.8, (CI 1.7-4.4, p<0.0001).