A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease
This study shows findings suggestive of liver involvement in 55.6% of volunteers, underscoring the potential of rare heterozygous ABCB4/11 variants as markers for identifying individuals at high risk of developing cholestatic liver disease. Consequently, individuals at higher genetic risk benefit from monitoring, personalised treatment and prevention strategies for cholestatic liver disease.
Authors
- M. Simpson
- David A. van Heel (ORCID: https://orcid.org/0000-0002-0637-2265)
- Maria Constantinides
- Joseph Gafton
- Antonio M. Garcia (ORCID: https://orcid.org/0000-0001-7258-2167)
Institutions
- Garvan Institute of Medical Research (AU)
- Queen Mary University of London (GB)
- Aston University (GB)
- King's College London (GB)
- Action for ME (GB)
- London Borough Of Lewisham (GB)
- Wellcome Sanger Institute (GB)
- University of Manchester (GB)
- The London College (GB)
- William Harvey Research Institute (GB)
- Bradford Teaching Hospitals NHS Foundation Trust (GB)
- University College London (GB)
- Imperial College London (GB)
Publication Details
- Journal
- Communications Medicine
- Published
- 2025-12-23
- DOI
- https://doi.org/10.1038/s43856-025-01228-4
- Primary Topic
- Drug Transport and Resistance Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Bristol-Myers Squibb
- Pfizer
- AstraZeneca
- GlaxoSmithKline
- Alnylam Pharmaceuticals
- Queen Mary University of London
- Broad Institute
- Barts Charity
- Maze Therapeutics
- National Institute for Health and Care Research
- King's College London
- Public Health England
- Novo Nordisk
- Barts Health NHS Trust
- Medical Research Council