Department of Medical Genetics, Medical Faculty, Erzincan University, Basbaglar Mah, 24100, Erzincan, Merkez, Turkey.
Department of Endocrinology, Medical Faculty, Erciyes University, Kayseri, Turkey.
J Endocrinol Invest. 2020 Sep;43(9):1271-1281. doi: 10.1007/s40618-020-01215-7. Epub 2020 Mar 12.
The study aimed to investigate whether repeat number in the androgen receptor (AR) gene has any contribution to phenotypes of the disease of androgen excess (polycystic ovary syndrome (PCOS), idiopathic hyperandrogenemia (IHA) and idiopathic hirsutism (IH) in a cohort of Turkish women.
Three hundred and fifty-four voluntary premenopausal women (172 healthy controls and 182 patients with androgen excess disorders and idiopathic hirsutism) 18-45 years of age seen at an outpatient endocrine clinic at Erciyes University Hospital between January 2013 and December 2014 were included. All volunteers have undergone physical examination and biochemical evaluation. The polymorphic (CAG)n repeat of the human AR was determined by fragment analyses.
Detailed clinical analyses of the patients ended up with 137 PCOS, 24 IHA, and 21 IH. Pairwise comparisons revealed the CAG repeat number differences between the PCOS and controls (p = 0.005) and IH and controls (p = 0.020). Women with CAG repeat length ≤ 17 had a significantly increased twofold risk for PCOS than those women with > 17 CAG repeats OR: 2.0 (95% CI 1.2-3.3, p = 0.005). Women with CAG repeat length ≤ 17 had a significantly increased threefold risk for IH than those women with > 17 CAG repeats OR: 2.9 (95% CI 1.2-7.3, p = 0.020). When correlation analysis was performed, a weak negative correlation was detected between the short allele and FGS score (r = - 0.131, p = 0.013) and a positive relationship between total testosterone and longer allele in the IHA group (r = 0.425, p = 0.039). Median repeat length of the shorter allele between oligomenorrhea and woman with normal menstrual cycle was found to be statistically significant (p = 0.017).
This study indicated that the risk of PCOS and IH is associated with the inheritance of ARs with shorter CAG repeats.
本研究旨在探讨雄激素受体（AR）基因中的重复次数是否对土耳其女性雄激素过多疾病（多囊卵巢综合征（PCOS）、特发性高雄激素血症（IHA）和特发性多毛症（IH））的表型有任何影响。
本研究纳入了 2013 年 1 月至 2014 年 12 月在埃尔吉耶斯大学医院内分泌门诊就诊的 354 名自愿的绝经前女性（172 名健康对照组和 182 名雄激素过多疾病和特发性多毛症患者），年龄 18-45 岁。所有志愿者均接受了体格检查和生化评估。通过片段分析确定人类 AR 的多态性（CAG）n 重复。
对患者进行详细的临床分析后，确定了 137 例 PCOS、24 例 IHA 和 21 例 IH。两两比较显示，PCOS 与对照组（p=0.005）和 IH 与对照组（p=0.020）之间的 CAG 重复数存在差异。CAG 重复长度≤17 的女性患 PCOS 的风险是 CAG 重复长度>17 的女性的两倍，OR：2.0（95%CI 1.2-3.3，p=0.005）。CAG 重复长度≤17 的女性患 IH 的风险是 CAG 重复长度>17 的女性的三倍，OR：2.9（95%CI 1.2-7.3，p=0.020）。当进行相关分析时，发现短等位基因与 FGS 评分呈弱负相关（r=-0.131，p=0.013），IHA 组中总睾酮与较长等位基因呈正相关（r=0.425，p=0.039）。在月经稀发和月经正常的女性之间，短等位基因的中位数重复长度存在统计学意义（p=0.017）。
本研究表明，PCOS 和 IH 的风险与 AR 较短 CAG 重复的遗传有关。
