open access

Vol 89, No 7 (2018)
Research paper
Published online: 2018-07-31
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The role of ABC transporters’ gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy

Krzysztof Piątek1, Grażyna Kurzawińska23, Justyna Magiełda2, Krzysztof Drews23, Magdalena Barlik23, Zbyszko Malewski2, Marcin Ożarowski45, Małgorzata Maciejewska23, Agnieszka Seremak-Mrozikiewicz23
DOI: 10.5603/GP.a2018.0067
·
Pubmed: 30091450
·
Ginekol Pol 2018;89(7):393-397.
Affiliations
  1. Department of Gynecology and Obstetrics with Gynecological Oncology Subdivision, Regional Hospital in Zielona Góra, Poland
  2. Division of Perinatology and Women’s Diseases, Poznan University of Medical Sciences, Poznan, Poland
  3. Laboratory of Molecular Biology, Division of Perinatology and Women’s Diseases, Poznan University of Medical Sciences, Poznan, Poland
  4. Department of Pharmacology and Phytochemistry, Institute of Natural Fibers and Medicinal Plants, Poznan, Poland
  5. Department of Pharmaceutical Botany and Plant Biotechnology, Poznan University of Medical Sciences, Poznan, Poland

open access

Vol 89, No 7 (2018)
ORIGINAL PAPERS Obstetrics
Published online: 2018-07-31

Abstract

 Objectives: The etiology of intrahepatic cholestasis of pregnancy (ICP) involves environmental, hormonal and genetic factors. It is thought that ICP may be related to the polymorphic variants of several genes involved in the metabolism and transport of bile acids (BA). The goal of our study was to evaluate the possible role of genetic polymorphic variants of ABC transporters in patients with ICP.

Material and methods: 96 women with ICP (mean age of 30.42 years, mean gestational age of 36.83 gestation weeks) and 211 healthy pregnant women (mean age of 30.68 years, mean gestational age of 39.05 gestation weeks) were enrolled in the study. Genetic analysis was performed using a polymerase chain reaction / restriction fragment length polymorphism (PCR/RFLP) method. The following polymorphisms were analysed: 1331T > C (V444A) ABCB11 and 1954A > G (R652G) ABCB4.

Results: Our analysis of frequency of genotypes and alleles of the 1954A > G ABCB4 polymorphism revealed no significant differences between the ICP and control groups. For the 1331T > C polymorphism of the ABCB11 gene the results revealed a higher frequency of 1331CC genotypes in the ICP group (39.58% vs. 29.38%. OR = 1.57, p = 0.05). Also, the frequency of the 1331C allele was higher in the ICP group compared to the control group (64.06% vs. 55.69%, OR = 1.42, p = 0.03).

Conclusions: The overrepresentation of mutated variants of the 1331T > C ABCB11 polymorphism in the ICP group suggests its contribution to the etiology of the intrahepatic cholestasis of pregnancy. Analysis of genotypes’ co-existence pointed to the possibility of the mutated variants of polymorphism 1954A > G ABCB4 and 1331T > C ABCB11 having a summation effect on the development of ICP.

Abstract

 Objectives: The etiology of intrahepatic cholestasis of pregnancy (ICP) involves environmental, hormonal and genetic factors. It is thought that ICP may be related to the polymorphic variants of several genes involved in the metabolism and transport of bile acids (BA). The goal of our study was to evaluate the possible role of genetic polymorphic variants of ABC transporters in patients with ICP.

Material and methods: 96 women with ICP (mean age of 30.42 years, mean gestational age of 36.83 gestation weeks) and 211 healthy pregnant women (mean age of 30.68 years, mean gestational age of 39.05 gestation weeks) were enrolled in the study. Genetic analysis was performed using a polymerase chain reaction / restriction fragment length polymorphism (PCR/RFLP) method. The following polymorphisms were analysed: 1331T > C (V444A) ABCB11 and 1954A > G (R652G) ABCB4.

Results: Our analysis of frequency of genotypes and alleles of the 1954A > G ABCB4 polymorphism revealed no significant differences between the ICP and control groups. For the 1331T > C polymorphism of the ABCB11 gene the results revealed a higher frequency of 1331CC genotypes in the ICP group (39.58% vs. 29.38%. OR = 1.57, p = 0.05). Also, the frequency of the 1331C allele was higher in the ICP group compared to the control group (64.06% vs. 55.69%, OR = 1.42, p = 0.03).

Conclusions: The overrepresentation of mutated variants of the 1331T > C ABCB11 polymorphism in the ICP group suggests its contribution to the etiology of the intrahepatic cholestasis of pregnancy. Analysis of genotypes’ co-existence pointed to the possibility of the mutated variants of polymorphism 1954A > G ABCB4 and 1331T > C ABCB11 having a summation effect on the development of ICP.

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Keywords

intrahepatic cholestasis of pregnancy, ICP, bile acid, ABC transporter, polymorphism

About this article
Title

The role of ABC transporters’ gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy

Journal

Ginekologia Polska

Issue

Vol 89, No 7 (2018)

Article type

Research paper

Pages

393-397

Published online

2018-07-31

DOI

10.5603/GP.a2018.0067

Pubmed

30091450

Bibliographic record

Ginekol Pol 2018;89(7):393-397.

Keywords

intrahepatic cholestasis of pregnancy
ICP
bile acid
ABC transporter
polymorphism

Authors

Krzysztof Piątek
Grażyna Kurzawińska
Justyna Magiełda
Krzysztof Drews
Magdalena Barlik
Zbyszko Malewski
Marcin Ożarowski
Małgorzata Maciejewska
Agnieszka Seremak-Mrozikiewicz

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