ArticleThe American journal of gastroenterology2014
A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.
Article in The American journal of gastroenterology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 124 citations in OpenAlex.
- GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.Nature communications · 2022Pooled it
- Hepatitis B infection and intrahepatic cholestasis of pregnancy: A systematic review and meta-analysis.Medicine · 2020Pooled it
- Total serum bile acids or serum bile acid profile, or both, for the diagnosis of intrahepatic cholestasis of pregnancy.The Cochrane database of systematic reviews · 2019Pooled it
- Molecular Mechanisms of the Gut-Liver-Placenta Axis in Intrahepatic Cholestasis of Pregnancy: Microbiota-Associated Pathogenesis and Next-Generation Therapeutic Strategies.International journal of molecular sciences · 2026Review
- The Latest on Intrahepatic Cholestasis of Pregnancy - Update 2026.Geburtshilfe und Frauenheilkunde · 2026Article
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Intrahepatic cholestasis of pregnancy.Nature reviews. Disease primers · 2025Review
- Unresolved alterations in bile acid composition and dyslipidemia in maternal and cord blood after UDCA treatment for intrahepatic cholestasis of pregnancy.American journal of physiology. Gastrointestinal and liver physiology · 2025Article
- A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.Internal and emergency medicine · 2025Article
- Hepatic immune regulation and sex disparities.Nature reviews. Gastroenterology & hepatology · 2024Review
- Relationship between HBV RNA level and pregnancy outcomes among hepatitis B carriers.Journal of medical biochemistry · 2024Article
- Genetic issues in ICP.Obstetric medicine · 2024Review
- Maternal and Neonatal Outcomes in Intrahepatic Cholestasis of Pregnancy.Journal of clinical medicine · 2023Article
- Prevalence, risk factors and adverse perinatal outcomes for Chinese women with intrahepatic cholestasis of pregnancy: a large cross-sectional retrospective study.Annals of medicine · 2022Article
- [Perinatal Outcomes of Using Ursodeoxycholic Acid to Treat Monochorionic and Dichorionic Twin Pregnancy Complicated by Intrahepatic Cholestasis of Pregnancy].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2022Article
- Nuclear Receptors in Pregnancy and Outcomes: Clinical Perspective.Advances in experimental medicine and biology · 2022Article
- Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.Frontiers in genetics · 2022Article
- Intrahepatic Cholestasis of Pregnancy.Geburtshilfe und Frauenheilkunde · 2021Article
- A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.Annals of translational medicine · 2021Article
- Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy.BMC pregnancy and childbirth · 2020Article
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Authors and funding
23 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesIntrahepatic cholestasis of pregnancy (ICP) has a complex etiology with a significant genetic component. Heterozygous mutations of canalicular transporters occur in a subset of ICP cases and a population susceptibility allele (p.444A) has been identified in ABCB11. We sought to expand our knowledge of the detailed genetic contribution to ICP by investigation of common variation around candidate loci with biological plausibility for a role in ICP (ABCB4, ABCB11, ABCC2, ATP8B1, NR1H4, and FGF19).
methodsICP patients (n=563) of white western European origin and controls (n=642) were analyzed in a case-control design. Single-nucleotide polymorphism (SNP) markers (n=83) were selected from the HapMap data set (Tagger, Haploview 4.1 (build 22)). Genotyping was performed by allelic discrimination assay on a robotic platform. Following quality control, SNP data were analyzed by Armitage's trend test.
resultsCochran-Armitage trend testing identified six SNPs in ABCB11 together with six SNPs in ABCB4 that showed significant evidence of association. The minimum Bonferroni corrected P value for trend testing ABCB11 was 5.81×10(-4) (rs3815676) and for ABCB4 it was 4.6×10(-7)(rs2109505). Conditional analysis of the two clusters of association signals suggested a single signal in ABCB4 but evidence for two independent signals in ABCB11. To confirm these findings, a second study was performed in a further 227 cases, which confirmed and strengthened the original findings.
conclusionsOur analysis of a large cohort of ICP cases has identified a key role for common variation around the ABCB4 and ABCB11 loci, identified the core associations, and expanded our knowledge of ICP susceptibility.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.