Imperial College London
Alternate

Dr Peter Kelleher

Faculty of Medicine, Department of Infectious Disease

Reader in Immunology
 
 
 
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Contact

 

+44 (0)20 3315 8251p.kelleher

 
 
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Location

 

J.2.10Chelsea and Westminster HospitalChelsea and Westminster Campus

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Summary

 

Publications

Citation

BibTex format

@article{Dixon:2022:10.1038/s41467-022-29931-z,
author = {Dixon, PH and Levine, AP and Cebola, I and Chan, MMY and Amin, AS and Aich, A and Mozere, M and Maude, H and Mitchell, AL and Zhang, J and NIHR, BioResource and Genomics, England Research Consortium Collaborators and Chambers, J and Syngelaki, A and Donnelly, J and Cooley, S and Geary, M and Nicolaides, K and Thorsell, M and Hague, WM and Estiu, MC and Marschall, H-U and Gale, DP and Williamson, C},
doi = {10.1038/s41467-022-29931-z},
journal = {Nature Communications},
title = {GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements},
url = {http://dx.doi.org/10.1038/s41467-022-29931-z},
volume = {13},
year = {2022}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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 1,138 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.
AU  - Dixon,PH
AU  - Levine,AP
AU  - Cebola,I
AU  - Chan,MMY
AU  - Amin,AS
AU  - Aich,A
AU  - Mozere,M
AU  - Maude,H
AU  - Mitchell,AL
AU  - Zhang,J
AU  - NIHR,BioResource
AU  - Genomics,England Research Consortium Collaborators
AU  - Chambers,J
AU  - Syngelaki,A
AU  - Donnelly,J
AU  - Cooley,S
AU  - Geary,M
AU  - Nicolaides,K
AU  - Thorsell,M
AU  - Hague,WM
AU  - Estiu,MC
AU  - Marschall,H-U
AU  - Gale,DP
AU  - Williamson,C
DO  - 10.1038/s41467-022-29931-z
PY  - 2022///
SN  - 2041-1723
TI  - GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-022-29931-z
UR  - http://hdl.handle.net/10044/1/99393
VL  - 13
ER  -
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