Patatin-Like Phospholipase Domain-Containing Protein 3 rs2896019 and MASLD Susceptibility and Severity in Adults: A Systematic Review and Meta-Analysis of Case-Control Studies.
Metab Syndr Relat DisordApr 17, 2026 (epub)
Clinical ResearchGastroenterology
Wei-Yue Lim, Rosmawati Mohamed, Yuh-Fen Pung et al.
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In 30 seconds
This systematic review and meta-analysis examined the association between the PNPLA3 rs2896019 polymorphism and metabolic dysfunction-associated steatotic liver disease (MASLD) in adults. Analyzing data from 10 case-control studies with 15,028 participants, the G allele was found to increase MASLD risk by 51% (OR: 1.5, CI: 1.23-1.85, P < 0.0001), with a stronger association in biopsy-proven cases.
Key findings
- The G allele of PNPLA3 rs2896019 is associated with a 51% increased risk of MASLD (OR: 1.5, CI: 1.23-1.85, P < 0.0001).
- A gene-dose effect was observed, with homozygous individuals showing an OR of 2.32 for MASLD (95% CI: 1.53-3.53, P < 0.0001).
- The G allele significantly increased the risk of severe MASLD/MASH (OR = 2.06) compared to mild steatosis (OR = 1.40).
Why it matters
Understanding genetic risk factors for MASLD can help clinicians identify high-risk patients and tailor monitoring and management strategies. The findings underscore the importance of genetic screening in assessing MASLD susceptibility and severity.