Abstract：
BACKGROUND: This study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis.
METHODS: Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined.
RESULTS: No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409.
CONCLUSIONS: Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.
METHODS: Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined.
RESULTS: No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409.
CONCLUSIONS: Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.
摘要：
背景：这项研究检查了CYP2E1的遗传变异（rs6413432，rs3813867），GCKR(rs780094,rs1260326),和PNPLA3（rs738409）在土耳其患者中评估他们对非酒精性脂肪性肝炎的影响。
方法：使用聚合酶链反应-限制性片段长度多态性进行SNP基因分型，比较了245例NASH患者和120例健康对照的等位基因和基因型频率。此外,检查了观察到的基因型频率与Hardy-Weinberg比例的偏差。
结果：在NASH患者和健康对照之间，rs6413432、rs3813867和rs780094的等位基因和基因型分布没有发现显著差异。然而,rs1260326和rs738409存在显著差异。性别和年龄分布没有显着差异。唯一观察到的与Hardy-Weinberg比例的偏差是rs738409的基因型频率。
结论：GCKR（rs1260326）和PNPLA3（rs738409）的变异与土耳其人群的NASH风险增加显著相关，rs738409变体可能在NASH发展中发挥更重要的作用。
方法：使用聚合酶链反应-限制性片段长度多态性进行SNP基因分型，比较了245例NASH患者和120例健康对照的等位基因和基因型频率。此外,检查了观察到的基因型频率与Hardy-Weinberg比例的偏差。
结果：在NASH患者和健康对照之间，rs6413432、rs3813867和rs780094的等位基因和基因型分布没有发现显著差异。然而,rs1260326和rs738409存在显著差异。性别和年龄分布没有显着差异。唯一观察到的与Hardy-Weinberg比例的偏差是rs738409的基因型频率。
结论：GCKR（rs1260326）和PNPLA3（rs738409）的变异与土耳其人群的NASH风险增加显著相关，rs738409变体可能在NASH发展中发挥更重要的作用。
