Pehlivan Sacide, Senkal Naci, Oyaci Yasemin, Kose Murat, Pehlivan Mustafa, Hasanoglu Sayin Sevde, Medetalibeyoglu Alpay, Serin Istemi, Tukek Tufan
Department of Medical Biology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Internal Medicine, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Mol Biol Rep. 2025 Apr 24;52(1):422. doi: 10.1007/s11033-025-10518-y.
Metabolic syndrome (MetS) is defined as a metabolic dysfunction characterized by the co-occurrence of multiple risk factors. Our study aimed to elucidate the effects of ADIPOQ rs266729, rs17300539, and rs2241766, AGT rs699 and rs4762, AGTR1 rs5186, AGTR2 rs11091046, ApoC-III rs2854116 and rs2854117, NR3C1 rs10052957 and rs41423247, and GNB3 rs5443 gene polymorphisms on MetS.
A total of 200 patients who met the diagnostic criteria for MetS at the Internal Medicine Outpatient Clinic of Istanbul University, Faculty of Medicine, between 01.08.2022 and 20.05.2023, and 100 healthy controls were included in our study. ADIPOQ rs17300539 GA, AGT rs699 TT, AGTR1 rs5186 AC, and AGTR2 rs11091046 CC genotypes were more frequently observed in patients diagnosed with MetS compared to healthy controls (p < 0.05 for all). MetS patients with AGT rs699 TT genotype had a higher incidence of hypertension compared to individuals with CC/CT genotype of the same polymorphism (p = 0.047). Individuals with ADIPOQ rs17300539 AA/AG and NR3C1 rs41423247 CC genotypes were found to have higher mean waist circumferences compared to others (p < 0.05 for all). Individuals with ADIPOQ rs17300539 AA/AG, NR3C1 rs10052957 GG, and AGT rs4762 GA/AA genotypes exhibited significantly higher incidence of nephropathy. Individuals with ADIPOQ rs17300539 AA/AG and NR3C1 rs10052957 GG genotypes had a significantly higher incidence of retinopathy compared to others.
The study demonstrated that the ADIPOQ rs17300539, AGT rs699, AGTR1 rs5186, and AGTR2 rs11091046 polymorphisms are associated with an increased susceptibility to MetS. Significant results concerning clinical features and complications were also observed. Further research is necessary to elucidate the relationship between susceptibility to MetS, clinical and laboratory characteristics, and epigenetic modifications.
代谢综合征(MetS)被定义为一种以多种危险因素同时出现为特征的代谢功能障碍。我们的研究旨在阐明脂联素(ADIPOQ)基因的rs266729、rs17300539和rs2241766位点,血管紧张素原(AGT)基因的rs699和rs4762位点,血管紧张素Ⅱ受体1(AGTR1)基因的rs5186位点,血管紧张素Ⅱ受体2(AGTR2)基因的rs11091046位点,载脂蛋白C-Ⅲ(ApoC-III)基因的rs2854116和rs2854117位点,糖皮质激素受体(NR3C1)基因的rs10052957和rs41423247位点,以及鸟嘌呤核苷酸结合蛋白β3(GNB3)基因的rs5443位点多态性对代谢综合征的影响。
2022年8月1日至2023年5月20日期间,在伊斯坦布尔大学医学院内科门诊符合代谢综合征诊断标准的200例患者以及100例健康对照纳入我们的研究。与健康对照相比,在诊断为代谢综合征的患者中,更频繁地观察到ADIPOQ rs17300539位点的GA基因型、AGT rs699位点的TT基因型、AGTR1 rs5186位点的AC基因型和AGTR2 rs11091046位点的CC基因型(所有p均<0.05)。与具有相同多态性CC/CT基因型的个体相比,AGT rs699位点TT基因型的代谢综合征患者高血压发病率更高(p = 0.047)。发现ADIPOQ rs17300539位点AA/AG基因型和NR3C1 rs41423247位点CC基因型的个体平均腰围高于其他个体(所有p<0.05)。ADIPOQ rs17300539位点AA/AG基因型、NR3C1 rs10052957位点GG基因型和AGT rs4762位点GA/AA基因型的个体肾病发病率显著更高。与其他个体相比,ADIPOQ rs17300539位点AA/AG基因型和NR3C1 rs10052957位点GG基因型的个体视网膜病变发病率显著更高。
该研究表明,ADIPOQ rs17300539、AGT rs699、AGTR1 rs5186和AGTR2 rs11091046多态性与代谢综合征易感性增加相关。还观察到有关临床特征和并发症的显著结果。有必要进一步研究以阐明代谢综合征易感性、临床和实验室特征以及表观遗传修饰之间的关系。