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Review
. 2008 Dec;1(2):65-71.
doi: 10.1258/om.2008.080010. Epub 2008 Dec 1.

The molecular genetics of intrahepatic cholestasis of pregnancy

P H Dixon  1 , C Williamson  1
Affiliations
Review

The molecular genetics of intrahepatic cholestasis of pregnancy

P H Dixon et al. Obstet Med. 2008 Dec.

Abstract

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.

Keywords: genetics; intrahepatic cholestasis of pregnancy; mutation; polymorphism.

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Figures

Figure 1
Figure 1
Schematic representation of a hepatocyte showing some of the transporters and receptors discussed in this review. BA, bile acid; NTCP, sodium taurocholate cotransporter polypeptide; MRP, multidrug resistance-associated protein; GSH, reduced glutathione; BSEP, bile salt export pump; MDR3, multidrug resistance protein 3; ABCG5/8, ABC heterodimeric transporter 5/8; FIC1, familial intrahepatic cholestasis 1 protein; FXR, farnesoid-X receptor. MRP3 and 4 are alternative export transporters that can transport bile acids back into the blood. Their role in intrahepatic cholestasis of pregnancy has not yet been examined in detail
See this image and copyright information in PMC

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