Molecular Anthropology Group, Biological Anthropology Unit, Indian Statistical Institute, Habsiguda, Hyderabad, India.
PLoS One. 2010 Aug 26;5(8):e12401. doi: 10.1371/journal.pone.0012401.
The present study was carried out to assess the role of androgen receptor CAG repeat polymorphism and X chromosome inactivation (XCI) pattern among Indian PCOS women and controls which has not been hitherto explored and also to test the hypothesis that shorter CAG alleles would be preferentially activated in PCOS. CAG repeat polymorphism and X chromosome methylation patterns were compared between PCOS and non-PCOS women. 250 PCOS women and 299 controls were included for this study. Androgen receptor CAG repeat sizes, XCI percentages, and clinical and biochemical parameters were measured. The mean CAG repeat number is similar between the cases (18.74±0.13) and controls (18.73±0.12). The obese PCOS women were significantly more frequent in the <18 and >20 CAG repeat category than the lean PCOS women, yielding a highly significant odds (p=0.001). Among the women with non-random X-inactivation, alleles with <19 repeats were more frequently activated among cases than controls (p=0.33). CAG repeat polymorphism by itself cannot be considered as a useful marker for discriminating PCOS. We observed a trend of preferential activation of the shorter allele among the PCOS cases with non random XCI pattern. In the obese PCOS women, this microsatellite variation may account for the hyperandrogenicity to a larger extent than the lean PCOS women.
本研究旨在评估雄激素受体 CAG 重复多态性和 X 染色体失活（XCI）模式在印度 PCOS 女性和对照组中的作用，这在以前尚未探索过，并且还测试了这样一个假设，即较短的 CAG 等位基因在 PCOS 中更优先激活。比较了 PCOS 和非 PCOS 女性之间的 CAG 重复多态性和 X 染色体甲基化模式。本研究纳入了 250 名 PCOS 女性和 299 名对照。测量了雄激素受体 CAG 重复大小、XCI 百分比以及临床和生化参数。病例（18.74±0.13）和对照组（18.73±0.12）之间的平均 CAG 重复数相似。肥胖的 PCOS 女性在<18 和>20 CAG 重复类别中比瘦的 PCOS 女性更为频繁，产生了非常显著的优势（p=0.001）。在非随机 X 失活的女性中，<19 个重复的等位基因在病例中比对照组更频繁地激活（p=0.33）。CAG 重复多态性本身不能被认为是区分 PCOS 的有用标记。我们观察到，在非随机 XCI 模式的 PCOS 病例中，较短的等位基因更倾向于被激活。在肥胖的 PCOS 女性中，这种微卫星变异可能比瘦的 PCOS 女性更能导致高雄激素血症。
