Genetic issues in ICP
File(s)
Published version
Author(s)
Zöllner, Julia
Williamson, Catherine
Dixon, Peter H
Type
Journal Article
Abstract
Intrahepatic cholestasis of pregnancy (ICP) is the commonest gestational liver disorder with variable global incidence. Genetic susceptibility, combined with hormonal and environmental influences, contributes to ICP aetiology. Adverse pregnancy outcomes linked to elevated serum bile acids highlight the importance of comprehensive risk assessment. ABCB4 and ABCB11 gene variants play a significant role in about 20% of severe ICP cases. Several other genes including ATP8B1, NR1H4, ABCC2, TJP2, SERPINA1, GCKR and HNF4A have also been implicated with ICP. Additionally, ABCB4 variants elevate the risk of drug-induced intrahepatic cholestasis, gallstone disease, gallbladder and bile duct carcinoma, liver cirrhosis and abnormal liver function tests. Genetic variations, both rare and common, intricately contribute to ICP susceptibility. Leveraging genetic insights holds promise for personalised management and intervention strategies. Further research is needed to elucidate variant-specific phenotypic expressions and therapeutic implications, advancing precision medicine in ICP management.
Date Issued
2024-09
Date Acceptance
2024-07-01
Citation
Obstetric Medicine, 2024, 17 (3), pp.157-161
ISSN
1753-4968
Publisher
SAGE Publications
Start Page
157
End Page
161
Journal / Book Title
Obstetric Medicine
Volume
17
Issue
3
Copyright Statement
© The Author(s) 2024. This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
License URL
Identifier
http://dx.doi.org/10.1177/1753495x241263441
Publication Status
Published
Date Publish Online
2024-07-26