Aim: To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V444A; ABCC2: 3563T>A --> V1188E and 4544G>A --> C1515Y) with intrahepatic cholestasis of pregnancy (ICP) and contraceptive-induced cholestasis (CIC).
Methods: ABCB11 and ABCC2 genotyping data were available from four CIC patients and from 42 and 33 ICP patients, respectively. Allele-frequencies of the studied polymorphisms were compared with those in healthy pregnant controls and Caucasian individuals. Furthermore, serum bile acid levels were correlated with the presence or absence of the 1331 C allele.
Results: The ABCB11 1331T>C polymorphism was significantly more frequent in cholestatic patients than in pregnant controls: C allele 76.2% (CI, 58.0-94.4) vs 51.3% (CI 35.8-66.7), respectively (P = 0.0007); and CC allele 57.1% (CI 36.0-78.3) vs 20% (CI 7.6-32.4), respectively (P = 0.0065). All four CIC patients were homozygous carriers of the C allele. In contrast, none of the studied ABCC2 polymorphism was overrepresented in ICP or CIC patients. Higher serum bile acid levels were found in carriers of the 1331CC genotype compared to carriers of the TT genotype.
Conclusion: Our data support a role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis, whereas no such association was found for ABCC2. Serum bile acid and gamma-glutamyl transferase levels might help to distinguish ABCB4- and ABCB11-related forms of ICP and CIC.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673389 | PMC |
| http://dx.doi.org/10.3748/wjg.14.38 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.
Medicine (Baltimore)
November 2021
Institute of Genome Research, Vietnam Academy of Science and Technology, Vietnam.
Article Synopsis
- Biliary atresia (BA) is a severe liver condition in infants that can be fatal if not treated quickly, and its cause remains unknown.
- The study investigates the link between the p.Val444Ala variant in the ABCB11 gene and susceptibility to BA in Vietnamese patients, finding a significant association with the disease.
- Results indicate that specific genotypes (CC and TC) are more common in BA patients than in healthy individuals, suggesting that the C allele increases the risk of developing BA.
The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy.
Ginekol Pol
October 2018
Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland; Laboratory of Molecular Biology, Division of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland.
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.
View Article and Find Full Text PDFDiagnosis of cirrhosis in patients with chronic hepatitis C genotype 4: Role of ABCB11 genotype polymorphism and plasma bile acid levels.
Turk J Gastroenterol
May 2018
Department of Tropical Medicine, Mansoura University, Mansoura, Egypt.
Background/aims: Chronic hepatitis C (CHC)-related mortality generally results from cirrhosis and subsequent complications. We aimed to investigate the potential role of plasma bile acid levels and ABCB11 1331T > C (V444A, rs2287622) (ATP-binding cassette subfamily B, member 11) gene polymorphism in fibrosis prediction in CHC genotype 4 patients.
Materials And Methods: This case control study included 85 healthy control and the following 225 subjects: 170 adult patients infected with hepatitis C virus (HCV) and categorized into three groups according to liver biopsy; no fibrosis group (F0) (n=33), early fibrosis group (F1-F2) (n=61), and advanced fibrosis group (F3-F4) (n=76).
Effect of common polymorphisms of the farnesoid X receptor and bile acid transporters on the pharmacokinetics of ursodeoxycholic acid.
Clin Exp Pharmacol Physiol
January 2016
Department of Medicine & Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong.
Ursodeoxycholic acid (UDCA), a natural, dihydroxy bile acid, promotes gallstone dissolution and has been attributed with several other beneficial effects. The farnesoid X receptor (FXR) may influence the pharmacokinetics of UDCA by modulating the expression of bile acid transporters. This exploratory study examined whether common functional polymorphisms in FXR and in bile acid transporter genes affect the pharmacokinetics of exogenous UDCA.
View Article and Find Full Text PDFMarked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.
BMC Genet
September 2015
Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, H-7624, Pecs, Hungary.
Background: SLCO1B1 polymorphisms are relevant in statin pharmacokinetics. Aim of this study was to investigate the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations. Genotypes of 470 Roma and 442 Hungarian subjects for c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!