3.8 Review

The molecular genetics of intrahepatic cholestasis of pregnancy

Journal

OBSTETRIC MEDICINE
Volume 1, Issue 2, Pages 65-71

Publisher

SAGE PUBLICATIONS LTD
DOI: 10.1258/om.2008.080010

Keywords

intrahepatic cholestasis of pregnancy; genetics; mutation; polymorphism

Funding

  1. Institute of Obstetrics and Gynaecology Trust
  2. The Lauren Page Trust and Wellbeing of Women
  3. Action Medical Research
  4. The Lauren Page Trust
  5. GlaxoSmithKline
  6. Wellbeing of Women
  7. Women for Women
  8. BBSRC
  9. Biomedical Research Centre at Imperial College Healthcare NHS Trust
  10. Hammersmith Hospitals Trustees

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Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, causes maternal pruritus and liver impairment, and may be complicated by spontaneous preterm labour, fetal asphyxial events and intrauterine death. Our understanding of the aetiology of this disease has expanded significantly in the last decade due to a better understanding of the role played by genetic factors. In particular, advances in our knowledge of bile homeostasis has led to the identification of genes that play a considerable role in susceptibility to ICP. In this review we consider these advances and discuss the disease in the context of bile synthesis and metabolism, focusing on the genetic discoveries that have shed light on the molecular aetiology and pathophysiology of the condition.

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