Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome.
Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome.
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DOI：
10.1371/journal.pone.0012401
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发表时间：
2010-08-26
期刊：
影响因子：
3.7
通讯作者：
Reddy BM
中科院分区：
文献类型：
--
作者：
Dasgupta S;Sirisha PV;Neelaveni K;Anuradha K;Reddy AG;Thangaraj K;Reddy BM
本研究旨在评估印度 PCOS 女性和对照组中雄激素受体 CAG 重复多态性和 X 染色体失活 (XCI) 模式的作用（迄今为止尚未探索），并检验较短的 CAG 等位基因在 PCOS 中优先激活的假设。比较 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 名对照者。测量雄激素受体 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 (18.73±0.12) 之间的平均 CAG 重复次数相似。肥胖 PCOS 女性在 <18 和 >20 CAG 重复类别中的频率明显高于瘦 PCOS 女性，产生非常显着的几率 (p = 0.001)。在非随机 X 失活的女性中，重复次数 <19 的等位基因在病例中比对照更频繁地被激活 (p = 0.33)。 CAG 重复多态性本身不能被视为区分 PCOS 的有用标记。我们观察到，在具有非随机 XCI 模式的 PCOS 病例中，较短等位基因优先激活的趋势。在肥胖的 PCOS 女性中，这种微卫星变异可能比瘦的 PCOS 女性在更大程度上解释了高雄激素性。
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.
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