ArticleScientific reports2017
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 4 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
73 citing papers in PubMed, 4 syntheses or guidelines pooled it, 143 citations in OpenAlex.
- Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy.Nature communications · 2026Pooled it
- FIGO guideline on liver disease and pregnancy.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Guideline
- GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.Nature communications · 2022Pooled it
- Pharmacological interventions for treating intrahepatic cholestasis of pregnancy.The Cochrane database of systematic reviews · 2020Pooled it
- Pregnancy-related disorders: molecular mechanisms and management.Molecular biomedicine · 2026Review
- 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
- First-Trimester Hepatobiliary and Inflammatory Composite Indices as Candidate Markers for Subsequent Intrahepatic Cholestasis of Pregnancy: A Case-Control Study.Diagnostics (Basel, Switzerland) · 2026Article
- Evaluating the 2023 European Association for the Study of the Liver Guidelines for Intrahepatic Cholestasis of Pregnancy: Risk Stratification and Outcomes in Over 4,000 US Patients.The American journal of gastroenterology · 2026Article
- The Latest on Intrahepatic Cholestasis of Pregnancy - Update 2026.Geburtshilfe und Frauenheilkunde · 2026Article
- Altered Bile Acid Transport in Liver Disease.Biomedicines · 2026Review
- Interpreting rare missense variants in ABCB4 using ACMG recommended in silico tools, bespoke prediction algorithm Vasor and AlphaMissense.Scientific reports · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Liver Conditions Specific to Pregnancy: Optimizing Management and Outcomes.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Review
- Intrahepatic cholestasis of pregnancy and offspring neurodevelopment: bile acid-mediated mechanisms and long-term neurodevelopmental outcomes.Archives of gynecology and obstetrics · 2026Review
- Prolonged Intrahepatic Cholestasis After Acute Hepatitis E Infection: A Case Series and Genetic Analysis.Journal of viral hepatitis · 2026Article
- Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Digestive diseases and sciences · 2026Review
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults.Frontiers in pediatrics · 2026Article
- Article
- A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.Communications medicine · 2025Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABCB11). High throughput sequencing in 147 patients was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve ABCB4 mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter. Four potential ABCB11 mutations - Glu297Gly (x3) and a donor splice site mutation (intron 19). Five potential ATP8B1 mutations - Asn45Thr (x3), and two others, Glu114Gln and Lys203Glu. Two ABCC2 mutations - Glu1352Ala and a duplication (exons 24 and 25). Three potential mutations were identified in TJP2; Thr62Met (x2) and Thr626Ser. No patient harboured more than one mutation. All were heterozygous. An additional 545 cases were screened for the potential recurrent mutations of ATP8B1 (Asn45Thr) and TJP2 (Thr62Met) identifying three further occurrences of Asn45Thr. This study has expanded known mutations in ABCB4 and ABCB11 and identified roles in ICP for mutations in ATP8B1 and ABCC2. Possible novel mutations in TJP2 were also discovered.
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Registered trials
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.