Wang Yong, Wu Xiao-ke, Cao Yun-xia, Yi Long, Zou Ying, Qu Jun-wei, Hou Li-hui
Teaching and Research Section of Histology and Embryology, Medical School of Nanjing University, Nanjing 210093, China.
Zhonghua Yi Xue Za Zhi. 2005 Dec 21;85(48):3396-400.
To investigate the distribution of (tttta) n microsatellite polymorphism in the promoter of CYP11a gene in Chinese women with polycystic ovary syndrome (PCOS) and the relationship between such polymorphism and PCOS.
Peripheral blood samples were obtained from 201 women with PCOS, aged 26 +/- 4, and 147 women without PCOS, aged 29 +/- 5. Radioimmunoassay was used to examine the levels of testosterone, follicle-stimulating hormone, luteinizing hormone, progesterone, estradiol, and prolactin. Locus-specific prime PCR was used to detect the frequencies of the CYP11a alleles. Body mass index (BMI) was calculated.
The average BMI of the women with PCOS was 22 kg/m(2) +/- 4 kg/m(2), and that of the non-PCOS women was 22 kg/m(2) +/- 6 kg/m(2). The six-repeat allele variant genotypic distribution of CYP11a was statistically different between the women with PCOS and those without PCOS [Fisher's exact test (2-tail), P = 0.031]. The frequency of 6//6 genotype in the PCOS patients was 57.7% (116/201), significantly higher than that of the non-PCOS women [44.9% (66/147), chi(2) = 5.588, P = 0.018]. The BMI of the PCOS patients with 4//4 genotype was 19.4 kg/m(2) +/- 1.7 kg/m(2), statistically lower than those of the PCOS patients with 4//6, 6//6, and 6//8 genotypes (23.6 kg/m(2) +/- 3.3 kg/m(2), 22.5 kg/m(2) +/- 3.8 kg/m(2), 22.2 kg/m(2) +/- 4.2 kg/m(2) respectively, P = 0.0037, 0.0027, and 0.059 respectively). The PCOS patients with the allele (tttta) 6 had markedly higher BMI (22.7 kg/m(2) +/- 3.7 kg/m(2)) than those without the allele (tttta) 6 (19.4 kg/m(2) +/- 1.7 kg/m(2), P = 0.0075). No differences were observed in the serum levels of reproductive hormones among the individuals with different genotypic features in the PCOS patients.
The six-repeat allele is the most common fragment of (tttta) n microsatellite polymorphism in Chinese Han woman. The 6//6 genotype is significantly more frequent and is associated with greater BMI in the women with PCOS. The six-repeat allele variant may play a certain role in the pathogenesis of PCOS.
研究中国多囊卵巢综合征（PCOS）女性中CYP11a基因启动子区（tttta）n微卫星多态性的分布情况，以及该多态性与PCOS的关系。
采集201例年龄为26±4岁的PCOS女性和147例年龄为29±5岁的非PCOS女性的外周血样本。采用放射免疫分析法检测睾酮、促卵泡生成素、促黄体生成素、孕酮、雌二醇和催乳素水平。采用位点特异性引物PCR检测CYP11a等位基因频率。计算体重指数（BMI）。
PCOS女性的平均BMI为22kg/m²±4kg/m²，非PCOS女性为22kg/m²±6kg/m²。PCOS女性和非PCOS女性之间CYP11a的六重复等位基因变异基因型分布存在统计学差异[Fisher精确检验（双侧），P = 0.031]。PCOS患者中6//6基因型的频率为57.7%（116/201），显著高于非PCOS女性[44.9%（66/147），χ² = 5.588，P = 0.018]。4//4基因型的PCOS患者BMI为19.4kg/m²±1.7kg/m²，统计学上低于4//6、6//6和6//8基因型的PCOS患者（分别为23.6kg/m²±3.3kg/m²、22.5kg/m²±3.8kg/m²、22.2kg/m²±4.2kg/m²，P分别为0.0037、0.0027和0.059）。携带等位基因（tttta）6的PCOS患者BMI显著高于未携带该等位基因的患者（22.7kg/m²±3.7kg/m²比19.4kg/m²±1.7kg/m²，P = 0.0075）。PCOS患者中不同基因型特征个体的血清生殖激素水平未观察到差异。
六重复等位基因是中国汉族女性（tttta）n微卫星多态性最常见的片段。6//6基因型在PCOS女性中显著更常见，且与更高的BMI相关。六重复等位基因变异可能在PCOS的发病机制中起一定作用。
