Genetic Susceptibility Versus Fibrosis Progression in North Indian Metabolic Dysfunction-Associated Steatotic Liver Disease: Distinct Roles of APOC3 and PNPLA3 in a Candidate Gene Study.
Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects 30-38% of Indian adults, yet the contribution of genetic risk variants to disease susceptibility and fibrosis progression remains poorly characterised. We investigated 12 candidate single-nucleotide polymorphisms (SNPs) in North Indian patients, benchmarking allele frequencies against IndiGenomes and global populations. Methods: = 31). Allele frequencies were compared with IndiGenomes (∼1020 Indian individuals) and 1000 Genomes populations. Results: = 1.000), suggesting a role in susceptibility rather than progression. Conclusion: rs738409 is associated with fibrosis severity within established disease. These hypothesis-generating findings support ancestry-specific approaches to genetic risk stratification in Indian MASLD.
Authors
- Sangeeta Choudhury (ORCID: https://orcid.org/0000-0001-5075-778X)
- Rizwana Hasan
- Ashish Kumar (ORCID: https://orcid.org/0000-0001-6680-7227)
- Anil Arora (ORCID: https://orcid.org/0009-0003-3594-5856)
- Nandini Tomar
- Sandhya Kiran Pemmasani (ORCID: https://orcid.org/0000-0002-4382-0100)
- Shayesta Jan
- Medha Sravanthi Lomada
- Tarun Rajput
- Rajwinder Kaur
- Rishikant Vaibhav
- Praveen Sharma
Institutions
- Department of Biotechnology (IN)
- Sir Ganga Ram Hospital (IN)
- Institute of Liver and Biliary Sciences (IN)
- SciGenom Labs (India) (IN)
Publication Details
- Journal
- PubMed
- Published
- 2026-09-18
- DOI
- https://doi.org/10.1016/j.jceh.2026.103638
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00