Abstract
OBJECTIVE: Metabolic dysfunction-associated steatotic liver disease (MASLD), a worldwide public health challenge with a prevalence of around 25%, is strongly related to obesity and insulin resistance. The present study investigated the possible association between MASLD and the leptin gene (LEP) -2548G>A (rs7799039) polymorphism. SUBJECTS AND METHODS: A total of 250 subjects (125 biopsy-proven MASLD patients and 125 controls) were genotyped for the -2548G>A promoter variant using the PCR-RFLP technique. RESULTS: There was no deviation from Hardy-Weinberg equilibrium for LEP -2548G>A polymorphism in both groups (P > 0.05). A significant association between this gene variant and MASLD was found. The LEP -2548G>A "GG" genotype compared with ''AA+AG'' genotype was underrepresented in the MASLD patients than controls, even after adjustment for confounding factors (P = 0.016; OR = 0.42, 95% CI = 0.40-0.83). CONCLUSION: For the first time, our findings demonstrated that the "GG" genotype of LEP -2548G>A gene variant can be a potential protective factor for MASLD. Further studies in other populations, however, are required to support this finding.