Center for Translational Medicine and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing 210093, PR China.
Mol Med Rep. 2012 May;5(5):1330-4. doi: 10.3892/mmr.2012.789. Epub 2012 Feb 13.
Human androgen receptor (AR) contains a highly polymorphic polyglutamine tract encoded by CAG repeats [(CAG)n] in exon 1 of the AR gene. The CAG repeats, ranging from 11 to 38, have been reported to be inversely correlated with AR activity. A case-control study involving 261 polycystic ovary syndrome (PCOS) patients and 278 healthy controls was conducted. Fluorescently labeled DNA fragments containing (CAG)n were obtained by PCR and genotyped via capillary electrophoresis. AR (CAG)n ranges were 6, 12-28 in PCOS cases and 9, 10, 12-32 in controls. In the PCOS group, a higher frequency of short (CAG)n alleles was found compared with that of controls (P=0.007). Similarly, CAG biallelic mean distributions also showed statistical difference between the two groups (P=0.025). In conclusion, shorter alleles of the (CAG)n in exon 1 of the AR gene enhanced the susceptibility to PCOS, either by upregulating AR activity or by causing hyperandrogenism.
人类雄激素受体 (AR) 包含一个高度多态的多聚谷氨酰胺区，由 AR 基因外显子 1 中的 CAG 重复序列 [(CAG)n] 编码。CAG 重复序列的范围从 11 到 38，据报道与 AR 活性呈负相关。一项涉及 261 名多囊卵巢综合征 (PCOS) 患者和 278 名健康对照的病例对照研究。通过 PCR 获得含有 (CAG)n 的荧光标记 DNA 片段，并通过毛细管电泳进行基因分型。在 PCOS 病例中，AR (CAG)n 范围为 6、12-28，在对照组中为 9、10、12-32。在 PCOS 组中，与对照组相比，短 (CAG)n 等位基因的频率更高 (P=0.007)。同样，两组之间 CAG 双等位基因的平均分布也存在统计学差异 (P=0.025)。总之，AR 基因外显子 1 中的 (CAG)n 较短的等位基因增强了 PCOS 的易感性，这可能是通过上调 AR 活性或导致高雄激素血症引起的。
