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目的研究胆固醇侧链裂解酶基因(CYP11a)启动子中(tttta)n微卫星多态性在中国女性多囊卵巢综合征发病中的作用。方法收集PCOS(201份)和非PCOS(147份)人群的血液标本。记录PCOS患者月经初潮年龄,计算体重指数,基因分型,检测血清中的生殖激素。结果CYP11的基因型分布在PCOS和非PCOS人群之间差异有统计学意义[Fisher精确检验(双尾),P=0.031]。主要是PCOS人群中基因型(tttta)6//(tttta)6的个体频率比非PCOS的频率高[57.7%(116/201)vs44.9%(66/147),χ2=5.588,P=0.018]。基因型为(tttta)4//(tttta)4的个体的体重指数(BMI)(19.4kg/m2±1.7kg/m2)显著小于其他基因型(4//6、6//6和6//8)的PCOS患者的BMI(23.6kg/m2±3.3kg/m2,22.5kg/m2±3.8kg/m2,22.2kg/m2±4.2kg/m2)(P=0.0037,0.0027,0.059)。而且含有(tttta)6等位基因的PCOS患者的BMI显著大于不含(tttta)6等位基因患者的BMI(22.7kg/m2±3.7kg/m2vs19.4kg/m2±1.7kg/m2,P=0.0075)。不同基因型的PCOS患者之间血清总睾酮及其他生殖激素的水平差异无统计学意义。中国人中的(tttta)6等位基因是最常见的片断。结论CYP11a基因型(tttta)6//(tttta)6在PCOS与非PCOS人群之间差异有统计学意义,而且与PCOS患者中大的BMI相关。提示(tttta)6在PCOS发病过程中起一定的作用。
Objective To study the role of the tttta n-promoter polymorphism of the cholesterol side chain lyase gene (CYP11a) promoter in the pathogenesis of Chinese women with polycystic ovary syndrome. Methods Blood samples from PCOS (201) and non-PCOS (147) populations were collected. Record PCOS patients with menarche age, calculate body mass index, genotyping, detection of serum reproductive hormones. Results The genotype distribution of CYP11 was statistically different between PCOS and non-PCOS population [Fisher exact test (two-tailed), P = 0.031]. The predominant frequency of individuals with a genotype (tttta) 6 // (tttta) 6 in the PCOS population was higher than those without PCOS [57.7% (116/201) vs 44.9% (66/147), χ2 = 5.588, P = 0.018]. Body mass index (BMI) (19.4 kg / m2 ± 1.7 kg / m2) was significantly smaller in individuals with genotype 4 (tttta) 4 than in other genotypes (4 // 6,6 // 6 and 6 / BMI (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) of PCOS patients (P = 0.0037,0.0027,0.059). Furthermore, BMI in PCOS patients with the (tttta) 6 allele was significantly greater than those in patients without the tttta 6 allele (22.7 kg / m2 ± 3.7 kg / m2 vs 19.4 kg / m2 ± 1.7 kg / m2, P = 0.0075). There was no significant difference in serum total testosterone and other reproductive hormones between PCOS patients with different genotypes. The Chinese (tttta) 6 allele is the most common. Conclusions The difference of CYP11a genotype (tttta) 6 // (tttta) 6 between PCOS and non - PCOS population is statistically significant, and is associated with large BMI in PCOS patients. Tip (tttta) 6 plays a role in the pathogenesis of PCOS.