Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Dixon, PH; Levine, AP; Cebola, I; Chan, MMY; Amin, AS; Aich, A; Mozere, M; Maude, H; Mitchell, AL; Zhang, J; Chambers, J; Syngelaki, A; Donnelly, J; Cooley, S; Geary, M; Nicolaides, K; Thorsell, M; Hague, WM; Estiu, MC; Marschall, HU; Gale, DP; Williamson, C, , NIHR, BioResource;Genomics, England, Research, Consortium, Collaborators.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Nat Commun. 2022; 13(1): 4840
Doi: 10.1038/s41467-022-29931-z
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- Study Group Members Med Uni Graz:
- Kovacs Gabor
- Olschewski Andrea
- Olschewski Horst
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Bile Acids and Salts - administration & dosage
- Cholestasis, Intrahepatic - genetics
- Female - administration & dosage
- Genome-Wide Association Study - administration & dosage
- Humans - administration & dosage
- Infant, Newborn - administration & dosage
- Pregnancy - administration & dosage
- Pregnancy Complications - genetics
- Premature Birth - administration & dosage