Association of PNPLA3 rs738409 C > G and rs2896019 T > G Polymorphisms with Nonalcoholic Fatty Liver Disease in a Turkish Population from Adıyaman Province

Bayram S., ÜLGER Y.

Genetic Testing and Molecular Biomarkers, vol.29, no.3, pp.63-73, 2025 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 3
  • Publication Date: 2025
  • Doi Number: 10.1089/gtmb.2024.0481
  • Journal Name: Genetic Testing and Molecular Biomarkers
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.63-73
  • Keywords: NAFLD susceptibility, nonalcoholic fatty liver disease, PNPLA3 rs738409 C>G and rs2896019 T>G polymorphisms, Turkish population
  • Çukurova University Affiliated: Yes

Abstract

Objectives: The purpose of this study was to investigate the effect of patatin-like phospholipase domain-containing protein 3 (PNPLA3) 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. Materials and Methods: This hospital-based molecular epidemiological case-control study analyzed the PNPLA3 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. Results: We found that the PNPLA3 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 (p < 0.05). In addition, the PNPLA3 Grs738409/Grs2896019 haplotype was associated with NAFLD development (p < 0.05). Significant differences in alanine aminotransferase and aspartate aminotransferase enzyme levels were observed across the genotypes of these polymorphisms (p < 0.05). Conclusion: This is the first study on PNPLA3 single nucleotide polymorphisms (SNPs) and NAFLD in the Turkish population of Adıyaman Province, Southeast Anatolia. Our findings suggest that the PNPLA3 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.