Association of Apolipoprotein C-III Gene Polymorphisms (rs2854116 and rs2854117) with Susceptibility to Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in a Turkish Population

Background and Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by the accumulation of fat in the liver, progressing from simple steatosis to various complications, with increasing prevalence in the modern world. Our study aimed to investigate the relationship between MASLD pathogenesis and the presence of apolipoprotein C-III (ApoC-III) gene variants rs2854116 and rs2854117 by comparing allele and genotype frequencies between MASLD patients and healthy individuals, as well as analyzing their association with biochemical parameters in Turkish populations. Materials and Methods: The study included 202 MASLD patients and 100 healthy controls who presented to our outpatient clinic. MASLD presence was determined by ultrasonography (USG). The demographic, laboratory, and clinical data of the participants were recorded. ApoC-III gene variants rs2854116 and rs2854117 were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method from genomic DNA samples obtained from blood. Results: The genotype and allele frequencies of ApoC-III gene variants rs2854116 and rs2854117 did not show significant differences between patient and healthy groups (p > 0.05). When biochemical parameters were evaluated, the LDH value of rs2854116 variant CT/CC genotype carriers was found to be significantly higher than TT genotype carriers (p = 0.016). Conclusions: We observed a high prevalence of MASLD in our Turkish cohort. However, the specific genetic variants we investigated were not associated with MASLD status. This suggests that these variants may not be significant contributing factors to MASLD in this population.