Bayram Süleyman, Ülger Yakup
Faculty of Health Sciences, Department of Public Health Nursing, Adıyaman University, Adıyaman, Turkey.
Faculty of Medicine, Department of Gastroenterology, Çukurova University, Adana, Turkey.
Genet Test Mol Biomarkers. 2025 Mar;29(3):63-73. doi: 10.1089/gtmb.2024.0481.
The purpose of this study was to investigate the effect of patatin-like phospholipase domain-containing protein 3 () 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. This hospital-based molecular epidemiological case-control study analyzed the 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. We found that the 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 ( < 0.05). In addition, the Grs738409/Grs2896019 haplotype was associated with NAFLD development ( < 0.05). Significant differences in alanine aminotransferase and aspartate aminotransferase enzyme levels were observed across the genotypes of these polymorphisms ( < 0.05). This is the first study on single nucleotide polymorphisms (SNPs) and NAFLD in the Turkish population of Adıyaman Province, Southeast Anatolia. Our findings suggest that the 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.
本研究旨在调查位于土耳其安纳托利亚东南部地区阿迪雅曼省的土耳其人群中,含帕他丁样磷脂酶结构域蛋白3()rs738409 C>G和rs2896019 T>G多态性对非酒精性脂肪性肝病(NAFLD)遗传易感性的影响。这项基于医院的分子流行病学病例对照研究分析了335例NAFLD病例和410例健康对照中的rs738409 C>G和rs2896019 T>G多态性。使用TaqMan分析法通过实时聚合酶链反应确定基因型频率。使用无条件逻辑回归模型计算比值比(OR)和95%置信区间(CI),评估与NAFLD易感性的关联。我们发现,rs738409 C>G(CC与GG:OR = 1.90,95%CI = 1.05 - 3.44)和rs2896019 T>G(TT与GG:OR = 3.24,95%CI = 1.44 - 7.27)多态性在几乎所有遗传模型中都与NAFLD风险增加相关(<0.05)。此外,Grs738409/Grs2896019单倍型与NAFLD发生相关(<0.05)。在这些多态性的基因型中观察到丙氨酸氨基转移酶和天冬氨酸氨基转移酶水平存在显著差异(<0.05)。这是在安纳托利亚东南部阿迪雅曼省土耳其人群中关于单核苷酸多态性(SNP)与NAFLD的首次研究。我们的研究结果表明,rs738409 C>G和rs2896019 T>G多态性及其单倍型可能影响NAFLD易感性。需要进一步开展更大样本量和不同人群的独立研究来证实这些结果。