Associations of CAG repeat polymorphism in the androgen receptor gene with steroid hormone levels and anthropometrics among men: the role of the ethnic factor.

IF 0.9 Q3 AGRICULTURE, MULTIDISCIPLINARY Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-02-01 DOI:10.18699/vjgb-24-10
L V Osadchuk, G V Vasiliev, A V Osadchuk
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Abstract

Androgens are required for stimulation and maintenance of skeletal growth and bone homeostasis. Physiological functions of androgens are mediated through the androgen receptor (AR). The androgen receptor gene AR has a polymorphic trinucleotide CAG repeat and the length of AR CAG repeats determining the sensitivity of bone tissue to androgens is associated with skeleton formation and body proportions. This study aimed to investigate the relationship between AR CAG repeat polymorphism, circulating sex steroid hormones and the anthropometrics in males of different ethnic origins. Male volunteers of three ethnic groups (Slavs, Buryats, Yakuts) from urban Russian populations were recruited in a population-based study (n = 1078). Anthropometric indicators (height, arm span, leg length, the length of 2 and 4 digits of both hands) were measured and the following anthropometric indices were calculated: the ratio of height to leg length, the ratio of arm span to height, the ratio of lengths of second to fourth digit of the hand. Serum testosterone and estradiol were determined by enzyme immunoassay. Genotyping of the AR CAG repeats was performed using fragment analysis and capillary electrophoresis. Ethnic differences in all anthropometric and hormonal indicators have been established, with higher anthropometric indicators in Slavs than Buryats, and in most cases higher than in Yakuts. The testosterone level was higher among Slavs compared to Buryats, but did not differ from Yakuts; the estradiol level was lower among Slavs compared to Buryats, who did not differ from Yakuts. Buryats and Yakuts had a higher number of CAG repeats than Slavs (medians: Slavs, 23; Buryats, 24; Yakuts, 25). Positive correlations were found between the length of AR CAG repeats and estradiol levels in Buryats and testosterone levels in Yakuts, while longer CAG repeats were accompanied by higher estradiol levels in Buryats and testosterone levels in Slavs and Yakuts. Ethnic-specific correlations have been established between the steroid hormone levels and some anthropometric indicators in all ethnic groups. Available data suggest that the ethnic-specific associations of AR CAG repeats with anthropometrics can be mediated by sex steroid hormones as important regulators of skeletal growth and bone homeostasis.

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雄激素受体基因 CAG 重复多态性与男性类固醇激素水平和人体测量的关系:种族因素的作用。
刺激和维持骨骼生长和骨平衡需要雄激素。雄激素的生理功能是通过雄激素受体(AR)介导的。雄激素受体基因 AR 具有多态性三核苷酸 CAG 重复序列,AR CAG 重复序列的长度决定了骨组织对雄激素的敏感性,与骨骼的形成和身体比例有关。本研究旨在调查不同种族男性的 AR CAG 重复多态性、循环性类固醇激素和人体测量学之间的关系。在一项以人口为基础的研究中,从俄罗斯城市人口中招募了三个民族(斯拉夫人、布里亚特人和雅库特人)的男性志愿者(n = 1078)。研究人员测量了人体测量指标(身高、臂展、腿长、双手第二和第四位数字长度),并计算了以下人体测量指数:身高与腿长之比、臂展与身高之比、双手第二和第四位数字长度之比。血清睾酮和雌二醇通过酶联免疫法测定。使用片段分析和毛细管电泳对 AR CAG 重复序列进行基因分型。所有人体测量和激素指标的种族差异已经确定,斯拉夫人的人体测量指标高于布里亚特人,在大多数情况下高于雅库特人。斯拉夫人的睾酮水平高于布里亚特人,但与雅库特人没有差异;斯拉夫人的雌二醇水平低于布里亚特人,但与雅库特人没有差异。布里亚特人和雅库特人的 CAG 重复数高于斯拉夫人(中位数:斯拉夫人 23 个;布里亚特人 24 个;雅库特人 25 个)。研究发现,AR CAG 重复序列的长度与布里亚特人的雌二醇水平和雅库特人的睾酮水平呈正相关,而 CAG 重复序列越长,布里亚特人的雌二醇水平越高,斯拉夫人和雅库特人的睾酮水平也越高。在所有民族中,类固醇激素水平与某些人体测量指标之间都存在民族特异性关联。现有数据表明,AR CAG重复序列与人体测量指标的种族特异性关联可能是由作为骨骼生长和骨平衡重要调节因子的性类固醇激素介导的。
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来源期刊
Vavilovskii Zhurnal Genetiki i Selektsii
Vavilovskii Zhurnal Genetiki i Selektsii AGRICULTURE, MULTIDISCIPLINARY-
CiteScore
1.90
自引率
0.00%
发文量
119
审稿时长
8 weeks
期刊介绍: The "Vavilov Journal of genetics and breeding" publishes original research and review articles in all key areas of modern plant, animal and human genetics, genomics, bioinformatics and biotechnology. One of the main objectives of the journal is integration of theoretical and applied research in the field of genetics. Special attention is paid to the most topical areas in modern genetics dealing with global concerns such as food security and human health.
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