Obstetric Medicine > Volume 1, Number 2 > Pp. 65-71

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Review articles

The molecular genetics of intrahepatic cholestasis of pregnancy

P H Dixon PhD BSc   and C Williamson MD FRCP   

Maternal and Fetal Disease Group, Institute of Reproductive and Developmental Biology, Imperial College London, Du Cane Road, London W12 0NN, UK

Correspondence to: Professor Catherine Williamson Email: catherine.williamson{at}imperial.ac.uk

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.

Key Words: intrahepatic cholestasis of pregnancy • genetics • mutation • polymorphism

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