Association of сarriage of the rs4646994 polymorphism of the ACE gene with obesity and androgen deficiency in men

K. I. Mosalev, S. V. Yankovskaya, I. D. Ivanov, B. Pinkhasov, V. Selyatitskaya
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Abstract

BACKGROUND: Obesity and androgen deficiency (AnD) are characterized by similar disturbances in metabolic parameters, the presence of signs of insulin resistance, metabolic syndrome, the risk of developing cardiovascular diseases (CVD) and vascular complications. These facts indicate the possibility of the presence of common mechanisms that determine the predisposition to the development of obesity and AnD, which may include genetic factors, in particular, the rs4646994 polymorphism of the ACE gene, which, according to recent data, is associated with the risk of developing CVD, hypertension, and obesity.AIM: To study the association of the carriage of polymorphic variants of the rs4646994 locus of the ACE gene with the features of anthropometric and androgenic status in men.MATERIALS AND METHODS: In the period from April 2020 to October 2021 there were observed male patients aged 18–75 years old, who were hospitalized in a therapeutic hospital because of comorbid somatic pathology (hypertension, coronary heart disease, dorsopathy, vegetative-vascular dystonia, gastroesophageal reflux disease, and others). Anthropometry, a study of the content of hormones of the reproductive system in the blood serum using enzyme-linked immunosorbent assay (ELISA), as well as a genetic study for the carriage of polymorphic variants of the rs4646994 locus of the ACE gene by the polymerase chain reaction (PCR) method, followed by electrophoresis of PCR products, were carried out. RESULTS: 82 patients took part in research. According to the results of genetic analysis, 17 people were assigned to the group of homozygotes for the wild type (I/I, G1), 41 people were assigned to the group of heterozygotes (I/D, G2), and 41 people were assigned to the group of homozygotes for the mutant allele (D/D, G3) 24 people. Body weight, chest circumference, waist and hips, body mass index in patients carrying the D allele of the rs4646994 polymorphism were statistically significantly higher than in I/I homozygotes. Differences in hormonal status also turned out to be statistically significant: patients from G1 compared with G2 and G3 had higher levels of total testosterone; from G1 compared to G3 — a higher level of free testosterone.CONCLUSION: An association of the carriage of the D allele of the rs4646994 polymorphic locus of the ACE gene with overweight and ADI was revealed.
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ACE基因rs4646994多态性与男性肥胖和雄激素缺乏的关系
背景:肥胖和雄激素缺乏症(and)在代谢参数、胰岛素抵抗迹象、代谢综合征、发展心血管疾病(CVD)和血管并发症的风险方面具有相似的障碍。这些事实表明,可能存在决定肥胖和and发展倾向的常见机制,其中可能包括遗传因素,特别是ACE基因的rs4646694多态性,根据最近的数据,这与发展为CVD、高血压和肥胖的风险有关。目的:研究ACE基因rs46466994位点多态性变异体的携带与男性人体测量和雄激素状态特征的关系。材料和方法:在2020年4月至2021年10月期间,观察到年龄在18-75岁之间的男性患者,他们因共病躯体病理(高血压、冠心病、背部病、植物性血管张力障碍、胃食管反流病等)而在治疗医院住院。进行了人体测量、使用酶联免疫吸附试验(ELISA)研究血清中生殖系统激素含量,以及使用聚合酶链式反应(PCR)方法携带ACE基因rs4646994位点多态性变体的遗传学研究,然后对PCR产物进行电泳。结果:82例患者参加了研究。根据遗传分析结果,17人被分配到野生型(I/I,G1)的纯合子组,41人被分配给杂合子组(I/D,G2),41人分配到突变等位基因(D/D,G3)的纯合子组24人。携带rs4646994多态性D等位基因的患者的体重、胸围、腰围和臀围、体重指数在统计学上显著高于I/I纯合子。激素状态的差异也具有统计学意义:与G2和G3相比,G1期患者的总睾酮水平更高;与G3相比,G1是一种更高水平的游离睾酮。结论:ACE基因rs46466994多态位点D等位基因的携带与超重和ADI有关。
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Obesity and Metabolism-Milan
Obesity and Metabolism-Milan 医学-内分泌学与代谢
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