|| 2.8x higher risk for intrahepatic cholestasis of pregnancy
|| 1.7x higher risk for intrahepatic cholestasis of pregnancy
|?|| (C;C) (C;T) (T;T) ||28|
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). [PMID 18987030]
| Disease Association
|| Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis 2 (PFIC2) (MIM:601847). PFIC2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. Defects in ABCB11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease.
[PMID 18176959] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 22522591] Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
[PMID 25713208] No Contribution of the ABCB11 p.444A Polymorphism in Japanese Patients with Drug-induced Cholestasis