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Lookup NU author(s): Dr Tina Biss, Dr Paul Brennan, Philip Griffiths, Professor Rita HorvathORCiD, Professor Patrick Chinnery, Dr Patrick Yu Wai Man, Dr Sally Johnson
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2022, The Author(s). Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility.
Author(s): Dixon PH, Levine AP, Cebola I, Gale DP, Williamson C, et al, NIHR BioResource, Genomics England Research Consortium, Biss TT, Brennan P, Griffiths PG, Horvath R, Chinnery PF, Yu Wai Man P, Johnson SA
Publication type: Article
Publication status: Published
Journal: Nature Communications
Year: 2022
Volume: 13
Issue: 1
Online publication date: 17/08/2022
Acceptance date: 08/04/2022
Date deposited: 28/06/2023
ISSN (electronic): 2041-1723
Publisher: Springer Nature
URL: https://doi.org/10.1038/s41467-022-29931-z
DOI: 10.1038/s41467-022-29931-z
PubMed id: 35977952
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