Integrated Genomic Analysis Reveals the Synergistic Role of PNPLA3 and ABCC8 Variants in Diabetic MASLD in Pakistan.

ABSTRACT: Introduction: Metabolic dysfunction associated steatotic liver disease (MASLD), previously termed as nonalcoholic fatty liver disease (NAFLD), is a growing global health concern, particularly in South Asia. While PNPLA3 is a well-recognized genetic contributor to MASLD, the role of other metabolic genes, such as ABCC8, remains unexplored in South Asian populations. In this study, we aim to investigate the genetic association and potential synergy between PNPLA3 (rs738409) and ABCC8 (rs146378237) variants in MASLD pathogenesis in a Pakistani cohort. Methods: A two-phased case-control study was conducted. Whole Exome Sequencing (WES) was performed on 6 MASLD cases and 6 healthy controls to identify relevant variants, followed by validation via Sanger sequencing in an extended M

SUBMITTER: Shabbir A 

PROVIDER: S-EPMC12452525 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature