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

@article{Dixon2009ContributionOV,
  title={Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.},
  author={Peter H. Dixon and Saskia W. C. van Mil and Jenny Chambers and Sandra s. Strautnieks and Russell J Thompson and Frank Lammert and Ralf Kubitz and Verena Keitel and Anna Glantz and L-{\AA} Mattsson and Hanns-Ulrich Marschall and Mariam Molokhia and Gudrun E Moore and Kenneth J. Linton and Catherine Williamson},
  journal={Gut},
  year={2009},
  volume={58 4},
  pages={
          537-44
        }
}
BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) has a complex aetiology with a significant genetic component. ABCB11 encodes the bile salt export pump (BSEP); mutations cause a spectrum of cholestatic disease, and are implicated in the aetiology of ICP. METHODS ABCB11 variation in ICP was investigated by screening for five mutant alleles (E297G, D482G, N591S, D676Y and G855R) and the V444A polymorphism (c.1331T>C, rs2287622) in two ICP cohorts (n = 333 UK, n = 158 continental Europe… CONTINUE READING

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