2003
DOI: 10.1136/gut.52.7.1025
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Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy

Abstract: Background and aims: The aim of this study was to investigate the genetic aetiology of intrahepatic cholestasis of pregnancy (ICP) and the impact of known cholestasis genes (BSEP, FIC1, and MDR3) on the development of this disease. Patients and methods: Sixty nine Finnish ICP patients were prospectively interviewed for a family history of ICP, and clinical features were compared in patients with familial ICP (patients with a positive family history, n=11) and sporadic patients (patients with no known family hi… Show more

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Cited by 112 publications
(36 citation statements)
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“…However, it is possible that as yet unidentified rare variants of the ABCB11 gene might play a part in ICP pathogenesis, as a recent study on 57 Finnish patients with ICP 30 linked two intragenic ABCB11 SNPs to ICP. Our findings are in line with a recent Finnish family study, 31 in which segregation of haplotypes and multipoint linkage analysis excluded ABCB11 as being responsible for the pathogenesis of ICP in two families with dominant inheritance. ABCB11 haplotype structure has also been investigated in patients with primary biliary cirrhosis, primary sclerosing cholangitis 20 or gallstone disease, without any specific findings.…”
Section: Discussionsupporting
confidence: 92%
“…However, it is possible that as yet unidentified rare variants of the ABCB11 gene might play a part in ICP pathogenesis, as a recent study on 57 Finnish patients with ICP 30 linked two intragenic ABCB11 SNPs to ICP. Our findings are in line with a recent Finnish family study, 31 in which segregation of haplotypes and multipoint linkage analysis excluded ABCB11 as being responsible for the pathogenesis of ICP in two families with dominant inheritance. ABCB11 haplotype structure has also been investigated in patients with primary biliary cirrhosis, primary sclerosing cholangitis 20 or gallstone disease, without any specific findings.…”
Section: Discussionsupporting
confidence: 92%
“…Mutations in the BSEP gene are not implicated in sporadic cases of ICP in Swiss patients (36). In addition, common mutations in MDR3 are not found in familial and sporadic cases of ICP in Finnish patients (37). Although mutations in these genes may raise the susceptibility to ICP, the results of these studies do not confirm a direct correlation between mutational events in these candidate genes and ICP.…”
Section: Discussioncontrasting
confidence: 54%
“…Estrogen has long been known to cause intrahepatic cholestasis in susceptible women during pregnancy (0.5-1.8% of pregnant women suffer from intrahepatic cholestasis, (13)(14)(15), after the administration of oral contraceptives, or during postmenopausal hormone replacement therapy (16). Experimental intrahepatic cholestasis induced by 17α-ethynylestradiol (EE) is a widely used in vivo animal model used to examine the molecular mechanisms involved in estrogen-induced cholestasis (17).…”
Section: Introductionmentioning
confidence: 99%