Literature DB >> 27582788

The molecular genetics of intrahepatic cholestasis of pregnancy.

P H Dixon1, C Williamson1.   

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.

Entities:  

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

Year:  2008        PMID: 27582788      PMCID: PMC4989713          DOI: 10.1258/om.2008.080010

Source DB:  PubMed          Journal:  Obstet Med        ISSN: 1753-495X


  68 in total

1.  A known polymorphism in the bile salt export pump gene is not a risk allele for intrahepatic cholestasis of pregnancy.

Authors:  J N Painter; M Savander; P Sistonen; A-E Lehesjoki; K Aittomäki
Journal:  Scand J Gastroenterol       Date:  2004-07       Impact factor: 2.423

2.  Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy.

Authors:  Marta Vallejo; Oscar Briz; Maria A Serrano; Maria J Monte; Jose J G Marin
Journal:  J Hepatol       Date:  2005-11-07       Impact factor: 25.083

3.  Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy.

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Journal:  Scand J Gastroenterol       Date:  2000-09       Impact factor: 2.423

Review 4.  Coordinate regulation of hepatic bile acid oxidation and conjugation by nuclear receptors.

Authors:  Jocelyn Trottier; Piotr Milkiewicz; Jenny Kaeding; Mélanie Verreault; Olivier Barbier
Journal:  Mol Pharm       Date:  2006 May-Jun       Impact factor: 4.939

5.  Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

Authors:  P H Dixon; N Weerasekera; K J Linton; O Donaldson; J Chambers; E Egginton; J Weaver; C Nelson-Piercy; M de Swiet; G Warnes; E Elias; C F Higgins; D G Johnston; M I McCarthy; C Williamson
Journal:  Hum Mol Genet       Date:  2000-05-01       Impact factor: 6.150

6.  Deoxycholic acid (DOC) affects the transport properties of distal colon.

Authors:  A C Mauricio; M Slawik; D Heitzmann; T von Hahn; R Warth; M Bleich; R Greger
Journal:  Pflugers Arch       Date:  2000-03       Impact factor: 3.657

7.  A prospective study of 18 patients with cholestasis of pregnancy.

Authors:  D Shaw; J Frohlich; B A Wittmann; M Willms
Journal:  Am J Obstet Gynecol       Date:  1982-03-15       Impact factor: 8.661

8.  Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait.

Authors:  R T Holzbach; D A Sivak; W E Braun
Journal:  Gastroenterology       Date:  1983-07       Impact factor: 22.682

9.  Intrahepatic cholestasis of pregnancy: a retrospective case-control study of perinatal outcome.

Authors:  A J Rioseco; M B Ivankovic; A Manzur; F Hamed; S R Kato; J T Parer; A M Germain
Journal:  Am J Obstet Gynecol       Date:  1994-03       Impact factor: 8.661

10.  The polymorphism of HLA-DR and -DQ allelic genes associated with intrahepatic cholestasis of pregnancy.

Authors:  Yiling Ding; Hong Shen; Xin Wang; Xuemei Fan; Xiang Wu; Xiao Yang
Journal:  Genet Test       Date:  2008-06
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  6 in total

1.  Inhibition of Na+-taurocholate Co-transporting polypeptide-mediated bile acid transport by cholestatic sulfated progesterone metabolites.

Authors:  Shadi Abu-Hayyeh; Pablo Martinez-Becerra; Siti H Sheikh Abdul Kadir; Clare Selden; Marta R Romero; Myrddin Rees; Hanns-Ulrich Marschall; Jose J G Marin; Catherine Williamson
Journal:  J Biol Chem       Date:  2010-02-20       Impact factor: 5.157

2.  An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Authors:  Peter H Dixon; Melissa Sambrotta; Jennifer Chambers; Pamela Taylor-Harris; Argyro Syngelaki; Kypros Nicolaides; A S Knisely; Richard J Thompson; Catherine Williamson
Journal:  Sci Rep       Date:  2017-09-18       Impact factor: 4.379

3.  Danger of Herbal Tea: A Case of Acute Cholestatic Hepatitis Due to Artemisia annua Tea.

Authors:  Francisco Javier Ruperti-Repilado; Simon Haefliger; Sophia Rehm; Markus Zweier; Katharina M Rentsch; Johannes Blum; Alexander Jetter; Markus Heim; Anne Leuppi-Taegtmeyer; Luigi Terracciano; Christine Bernsmeier
Journal:  Front Med (Lausanne)       Date:  2019-10-11

4.  Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Authors:  Xianxian Liu; Jiusheng Zheng; Siming Xin; Yang Zeng; Xiaoying Wu; Xiaoming Zeng; Hua Lai; Yang Zou
Journal:  Front Genet       Date:  2022-08-15       Impact factor: 4.772

5.  A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.

Authors:  Peter H Dixon; Christopher A Wadsworth; Jennifer Chambers; Jennifer Donnelly; Sharon Cooley; Rebecca Buckley; Ramona Mannino; Sheba Jarvis; Argyro Syngelaki; Victoria Geenes; Priyadarshini Paul; Meera Sothinathan; Ralf Kubitz; Frank Lammert; Rachel M Tribe; Chin Lye Ch'ng; Hanns-Ulrich Marschall; Anna Glantz; Shahid A Khan; Kypros Nicolaides; John Whittaker; Michael Geary; Catherine Williamson
Journal:  Am J Gastroenterol       Date:  2013-12-24       Impact factor: 10.864

6.  Prevalence and risk factors of intrahepatic cholestasis of pregnancy in a Chinese population.

Authors:  Xing-Xing Gao; Meng-Ying Ye; Yan Liu; Jin-Yan Li; Li Li; Wei Chen; Xue Lu; Guiying Nie; Yuan-Hua Chen
Journal:  Sci Rep       Date:  2020-10-01       Impact factor: 4.379

  6 in total

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