Association of <i>PNPLA3</i> rs738409 C &gt; G and rs2896019 T &gt; G Polymorphisms with Nonalcoholic Fatty Liver Disease in a Turkish Population from Adıyaman Province

<b><i>Objectives:</i></b> The purpose of this study was to investigate the effect of patatin-like phospholipase domain-containing protein 3 (<i>PNPLA3</i>) rs738409 C > G and rs2896019 T > G polymorphisms on genetic susceptibility to nonalcoholic fatty liver disease (NAFLD) in a Turkish population from Adıyaman province, located in the Southeast Anatolia Region of Turkey. <b><i>Materials and Methods:</i></b> This hospital-based molecular epidemiological case-control study analyzed the <i>PNPLA3</i> rs738409 C > G and rs2896019 T > G polymorphisms in 335 NAFLD cases and 410 healthy controls. Genotype frequencies were determined using real-time polymerase chain reaction with the TaqMan assay. The association with NAFLD susceptibility was evaluated by calculating odds ratios (ORs) and 95% confidence intervals (CIs) using an unconditional logistic regression model. <b><i>Results:</i></b> We found that the <i>PNPLA3</i> rs738409 C > G (CC vs. GG: OR = 1.90, 95% CI = 1.05-3.44) and rs2896019 T > G (TT vs. GG: OR = 3.24, 95% CI = 1.44-7.27) polymorphisms were linked to an increased risk of NAFLD in almost all genetic models (<i>p</i> < 0.05). In addition, the <i>PNPLA3</i> Grs738409/Grs2896019 haplotype was associated with NAFLD development (<i>p</i> < 0.05). Significant differences in alanine aminotransferase and aspartate aminotransferase enzyme levels were observed across the genotypes of these polymorphisms (<i>p</i> < 0.05). <b><i>Conclusion:</i></b> This is the first study on <i>PNPLA3</i> single nucleotide polymorphisms (SNPs) and NAFLD in the Turkish population of Adıyaman Province, Southeast Anatolia. Our findings suggest that the <i>PNPLA3</i> rs738409 C > G and rs2896019 T > G polymorphisms, along with their haplotypes, may influence NAFLD susceptibility. Further independent studies with larger sample sizes and diverse populations are needed to confirm these results.