Dixon, Peter H 
ORCID: 0000-0002-0197-2632, Levine, Adam P ORCID: 0000-0003-1333-9938, Cebola, Inês ORCID: 0000-0003-3528-4982, Chan, Melanie MY ORCID: 0000-0003-1968-1734, Amin, Aliya S, Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L, Zhang, Jun et al (show 14 more authors)
(2022)
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Nature communications, 13 (1).
4840-.
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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.pdf - Published version Download (1MB) | Preview |
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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.pdf - Published version Download (1MB) | Preview |
Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NIHR BioResource, Genomics England Research Consortium Collaborators, Humans, Cholestasis, Intrahepatic, Pregnancy Complications, Premature Birth, Bile Acids and Salts, Pregnancy, Infant, Newborn, Female, Genome-Wide Association Study |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 05 Sep 2022 13:01 |
| Last Modified: | 18 Jan 2023 20:45 |
| DOI: | 10.1038/s41467-022-29931-z |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3163509 |
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