Letsiou Sophia, Prountzou Eirini, Vougiouklaki Despina, Trapali Maria, Papapanou Michail, Siateli Zoe, Ladias Konstantinos, Houhoula Dimitra, Halvatsiotis Panagiotis
Department of Food Science and Technology, Faculty of Food Sciences, University of West Attica, 12243 Athens, Greece.
Department of Biomedical Science, University of West Attica, 12243 Athens, Greece.
Genes (Basel). 2025 Jul 27;16(8):886. doi: 10.3390/genes16080886.
SIRT1 is a NAD-dependent protein deacetylase regulating metabolic and stress response pathways. Genetic variations in the gene may contribute to the pathogenesis of type 2 diabetes mellitus (T2DM). This case-control study investigates the associations of two SIRT1 promoter polymorphisms, rs12778366 and rs3758391, in patients with type 2 diabetes mellitus (T2DM), gestational diabetes mellitus (GDM), preeclampsia, and healthy controls. This case-control study compared the genotypes between T2DM and pregnant and non-pregnant controls. We also compared genotypes between pregnant women with T2DM, GDM, preeclampsia, and healthy pregnant controls. Genomic DNA was extracted and analyzed using PCR-RFLP for the detection of rs12778366 and rs3758391 polymorphisms. Genotype frequencies were compared using chi-square tests, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. The study included 66 patients with T2DM, 36 with GDM, 12 with preeclampsia, and 81 pregnant and non-pregnant controls (33 pregnant controls). Although rs3758391 was more frequent in T2DM, the difference was not statistically significant between SIRT1 polymorphisms and T2DM. The CT genotype was more prevalent in T2DM (54.5%) compared to controls (33.4%); however, this difference was not significant. We finally found no significant association of the investigated SIRT1 polymorphisms with any of the conditions studied. In addition, the small sample size, especially for preeclampsia cases, limits the statistical power to detect significant associations. Although no significant association was observed between SIRT1 polymorphisms and diabetes, the findings of our study underscore the need for further studies examining SIRT1 polymorphisms in various ethnic groups, with a focus on leveraging these genetic variations in diabetes pathophysiology. Larger studies in the Greek population could also provide additional meaningful findings.
SIRT1是一种依赖烟酰胺腺嘌呤二核苷酸（NAD）的蛋白质脱乙酰酶，可调节代谢和应激反应途径。该基因的遗传变异可能与2型糖尿病（T2DM）的发病机制有关。这项病例对照研究调查了两种SIRT1启动子多态性rs12778366和rs3758391在2型糖尿病（T2DM）、妊娠期糖尿病（GDM）、先兆子痫患者以及健康对照人群中的相关性。 这项病例对照研究比较了T2DM患者与妊娠及非妊娠对照人群的基因型。我们还比较了患有T2DM、GDM、先兆子痫的孕妇与健康妊娠对照人群的基因型。提取基因组DNA，并使用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）检测rs12778366和rs3758391多态性。使用卡方检验比较基因型频率，并计算95%置信区间（CI）的比值比（OR）。 该研究纳入了66例T2DM患者、36例GDM患者、12例先兆子痫患者以及81名妊娠和非妊娠对照者（33名妊娠对照者）。尽管rs3758391在T2DM患者中更为常见，但SIRT1多态性与T2DM之间的差异无统计学意义。与对照人群（33.4%）相比，CT基因型在T2DM患者中更为普遍（54.5%）；然而，这种差异并不显著。我们最终发现，所研究的SIRT1多态性与所研究的任何疾病状况均无显著相关性。此外，样本量较小，尤其是先兆子痫病例，限制了检测显著相关性的统计效力。 尽管未观察到SIRT1多态性与糖尿病之间存在显著相关性，但我们的研究结果强调了进一步研究不同种族人群中SIRT1多态性的必要性，重点是利用这些遗传变异来研究糖尿病的病理生理学。在希腊人群中开展更大规模的研究也可能会提供更多有意义的发现。
