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Subject Area

Public Health

Article Type

Original Study

Abstract

Abstract: Objective: to explore the association between PNPLA3 and susceptibility to MASLD within the Egyptian population. Background: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously recognized as non-alcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disease, linked to genetic variants, specifically the PNPLA3 rs738409 C>G polymorphism. Methods: The study included 150 (50 MASLD cases and 100 controls) enrolled from the National Liver Institute, Hospital, Egypt. MASLD cases were diagnosed by ultrasound. The PNPLA3 rs738409 C>G polymorphism genotyping was done through the use of TaqMan SNP Genotyping Assays Results: Based to our results, there was no significance disparity between MASLD and control as regard their age (48.6±6.7 vs. 47.2±4.3 years, p=0.27) or gender (M/F: 24/26 vs. 43/57, p=0.561).The distribution of PNPLA3 rs738409 genotypes showed that GG and CG had a greater proportion in cases of MASLD (6.0% and 52.0%, respectively) than in controls (2.0% and 30.0%, respectively) (p=0.009). The frequency of G allele was more among MASLD cases (32.0%) than control (17.0%) (P = 0.003). By logistic regression analysis, The CG and GG genotypes exhibited higher odds for being associated with the presence of MASLD in both unadjusted models (OR=1.9 and OR=2.5, respectively) and adjusted models (OR=1.7 and OR=4.8, respectively). Conclusion: The PNPLA3 rs738409 C>G polymorphism significantly correlated with increasing the susceptibility to MASLD and liver fibrosis degree among the Egyptian population. Future studies should involve larger, multi-center cohorts and take environmental factors, life style and dietary habits into account.

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