Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakif Gureba Cad. 34080 Sehremini, Istanbul, Turkey.
Department of Public Health, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Biochem Genet. 2020 Dec;58(6):935-952. doi: 10.1007/s10528-020-09987-6. Epub 2020 Jul 10.
Polymorphisms in the ESR1 gene have been associated with obesity and lipid metabolism. There are also important sex-related differences in the prevalence of obesity and related phenotypes. Therefore, we aimed to interrogate the association of the ESR1 rs2175898 gene polymorphism with obesity, obesity-related variables, and lipid levels in men and women as separate groups. Two thousand twenty-two randomly selected middle-aged and elderly Turks were genotyped for ESR1 rs2175898 polymorphism using real-time polymerase chain reaction with hybridization probes. We found sex-related differences of the ESR1 rs2175898 polymorphism in obesity. Logistic regression analysis after adjustment for age, smoking status, physical activity, diabetes mellitus, and the presence of menopause status in women demonstrated significantly decreased risk for obesity in female AG genotype carriers (OR 0.69; 95% CI 0.52-0.91; p = 0.010), and in male GG genotype carriers (OR 0.49; 95% CI 0.25-0.96; p = 0.039), Furthermore, carriers of the rs2175898 G allele exhibited a lower body mass index in both sexes and decreased waist circumference in women but not in men. Our findings also showed significantly higher serum total-C levels (p = 0.007) in the carriers of the AG+GG/AG genotype compared with the AA genotype in men. The AG genotype of the ESR1 rs2175898 polymorphism in women and GG genotype in men were found to have a decreased likelihood for obesity compared with the other rs2175898 genotypes.
ESR1 基因的多态性与肥胖和脂质代谢有关。肥胖及其相关表型在男性和女性中的流行也存在重要的性别差异。因此,我们旨在分别探讨 ESR1 rs2175898 基因多态性与肥胖、肥胖相关变量和血脂水平的相关性。使用实时聚合酶链反应与杂交探针,我们对 2222 名随机选择的中年和老年土耳其人进行了 ESR1 rs2175898 多态性的基因分型。我们发现 ESR1 rs2175898 多态性在肥胖方面存在性别差异。对女性的年龄、吸烟状况、体力活动、糖尿病和绝经状态进行调整后的逻辑回归分析表明,女性 AG 基因型携带者肥胖的风险显著降低(OR 0.69;95%CI 0.52-0.91;p=0.010),男性 GG 基因型携带者肥胖的风险也显著降低(OR 0.49;95%CI 0.25-0.96;p=0.039)。此外,rs2175898 G 等位基因携带者在两性中体重指数较低,女性腰围减小,但男性腰围没有减小。我们的研究结果还表明,与男性的 AA 基因型相比,AG+GG/AG 基因型携带者的血清总胆固醇水平显著升高(p=0.007)。与其他 rs2175898 基因型相比,女性 ESR1 rs2175898 多态性的 AG 基因型和男性 GG 基因型发生肥胖的可能性较低。