ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy

Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump

“…Recently, mutations in the ABCB4 gene that encodes the canalicular phospholipid flippase multidrug resistance protein 3 (MDR3) have been implicated in the development of ICP and CIC in a subset of affected patients [5,[8][9][10][11][12] . MDR3associated cases of hormonal cholestasis are associated with elevated serum γ-glutamyl transferase (γ-GT) levels in 80% of affected patients, which reflects cholangiocytic damage characteristic of MDR3 dysfunction [11] .…”

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy

“…Two PFIC genes, ABCB4 (encoding the multidrug resistance 3 (MDR3) protein) and ATP8B1 (encoding the familial intrahepatic cholestasis 1 (FIC1) protein), have been implicated in the pathogenesis of ICP in a number of studies 12 – 16. Initially mutations of ABCB4 were identified in a subset of women with ICP that also had raised γ-glutamyltransferase (GGT) levels 14 – 16. Recent studies have also identified mutations in individuals17 and in a large pedigree18 with normal GGT levels.…”

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

“…This gene is involved primarily in a subtype of progressive familial intrahepatic cholestasis called PFIC3 (OMIM 602347),7 8 9 but mutations of this gene have also been reported in other cholestatic syndromes 10. Involvement of a defect of the ABCB4 gene was first reported in patients with cholestasis during pregnancy by de Vree et al ,8 and several mutations in the ABCB4 gene were then reported in patients with ICP 11 12 13 14 15 16 17 18. The incidence of these ABCB4 mutations in patients with ICP varies according to the study, and their role in the pathogenesis of ICP has not been clearly established 19.…”