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Article

Uncovering Genetic Drivers of MASLD in South Asia: A Whole-Exome Sequencing Study in Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Jun 2026

Shabbir Asma, Khatoon Ambrina, Abbas Zaigham, Mirza Talat

Abstract excerpt

OBJECTIVE: To identify and characterise genetic variants associated with Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) through whole-exome sequencing (WES), using the ClinVar database as the primary resource for variant evaluation. STUDY DESIGN: A case-control study. Place and Duration of the Study: Department of Gastroenterology and Hepatology, Ziauddin University, Karachi, Pakistan, from...

Topics

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Case-Control Studies
Exome Sequencing
KCNJ11 gene
PNPLA3 gene
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

South Asian People

Source

Identifiers

PMID: 42219829
DOI: 10.29271/jcpsp.2026.06.725

Genes

KCNJ11
PNPLA3
PRKCQ
SUMO4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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