多囊卵巢综合征患者一级亲属遗传表型的研究

目的： 探讨多囊卵巢综合征(PCOS) 患者一级亲属遗传表型的相关性。方法：采用问卷表收集2007年4月至12月105例 PCOS 患者的一级亲属和 103 名对照者一级亲属的临床资料，比较肥胖、糖尿病、冠心病、早秃（男性）、月经稀发（女性）、高血压在两组间的发生频率，进行统计分析。结果：PCOS 患者一级亲属肥胖、糖尿病、冠心病、早秃（男性）、月经稀发（女性）发生率分别占 32.4 %，11.9％，8.1％，19.1％，30.5%，均明显高于对照组 (为 20.3%，4.4%，2.4%，7.8%，1.9%,均 P< 0. 05),OR分别为1.87， 2.958，3.541，2.794，22.137。根据Falconer公式计算遗传度，分别为肥胖41.1%,糖尿病47.5%，冠心病48％，早秃53.3％，月经稀发87％，高血压12%。 结论：PCOS患者一级亲属肥胖、糖尿病、冠心病、男性早秃、女性月经稀发可能是PCOS的独立遗传表型。遗传因素对月经稀发起主导作用，环境因素在其他表型中的作用更为重要。

Study on the first degree relatives phenotypes in women with polycystic ovary syndrome

ObjectiveTo explore the first degree relatives phenotypes in women with polycystic ovary syndrome (PCOS).Methods Clinical data were collected by questionnaires from 105 first degree relatives of women with PCOS and from 103 first degree relatives of controls with normal menses from April to December 2007. It was compared for the distribution of obesity, diabetes, coronary heart diseases, male premature balding, female menses irregularity, and hypertension between the first degree relatives of the PCOS group and the controls. ResultsThere were significant differences in the incidence of obesity, diabetes and coronary heart diseases bewteen the PCOS group and control. The prevalences of obesity, diabetes, coronary heart disease, male premature balding, and female menses irregularity were significantly higher in the PCOS group than those in the control (P<0.05).The odds ratios were 1.87,2.958, 3.541, 2.794, 22.137, respectively.The heritabilities were 41.1%, 47.5%, 48%, 53.3%, and 87% respectively. There was no significant difference between the incidence of hypertension in 2 groups, and the heritability is 12%.Conclusion Obesity, diabetes, coronary heart disease, male premature balding and female menses irregularity may be the independent phenotypes in families of women with PCOS. Genetic factor is major in menses irregularity and the environment factor is more important in other phenotypes.