|(C;C)||2.8x higher risk for intrahepatic cholestasis of pregnancy|
|(C;T)||1.7x higher risk for intrahepatic cholestasis of pregnancy|
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.
|qualified_impact||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
[PMID 28292275] A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.