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• W2099686444 abstract "<b>Background:</b> Intrahepatic cholestasis of pregnancy (ICP) is characterised by troublesome maternal pruritus, raised serum bile acid levels and increased fetal risk. Mutations of the <i>ABCB4</i> gene encoding the hepatobiliary phospholipid transporter have been identified in a small proportion of patients with cholestasis of pregnancy. In a recent prospective study on 693 patients with cholestasis of pregnancy, a cut-off level for serum bile acid (⩾40 μmol/l) was determined for increased risk of fetal complications. <b>Objectives:</b> To investigate whether common combinations of polymorphic alleles (haplotypes) of the genes encoding the hepatobiliary ATP-binding cassette (ABC) transporters for phospholipids (ABCB4) and bile acids (ABCB11) were associated with this severe form of cholestasis of pregnancy. <b>Methods:</b> For genetic analysis, 52 women with bile acid levels ⩾40 μmol/l (called cases) and 52 unaffected women (called controls) matched for age, parity and geographical residence were studied. Gene variants tagging common <i>ABCB4</i> and <i>ABCB11</i> haplotypes were genotyped and haplotype distributions were compared between cases and controls by permutation testing. <b>Results:</b> In contrast with <i>ABCB11</i> haplotypes, <i>ABCB4</i> haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the <i>ABCB4</i> gene variants. Specifically, haplotype <i>ABCB4_5</i> occurred more often in cases, whereas haplotypes <i>ABCB4_3</i> and <i>ABCB4_7</i> were more common in controls. These associations were reflected by different frequencies of at-risk alleles of the two tagging polymorphisms (c.711A: odds ratio (OR) 2.27, p = 0.04; deletion intron 5: OR 14.68, p = 0.012). <b>Conclusion:</b> Variants of <i>ABCB4</i> represent genetic risk factors for the severe form of ICP in Sweden." @default.
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• W2099686444 date "2007-02-01" @default.
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• W2099686444 title "Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene" @default.
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• W2099686444 doi "https://doi.org/10.1136/gut.2006.092742" @default.
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