妇科常见病在双生子队列中的研究进展

双生子研究是分析复杂疾病中遗传与环境因素的一种经济有效的方法，在许多疾病的病因学研究中广泛应用。经典的双生子研究通过比较同卵双生子和异卵双生子的表型异同来分析疾病的遗传度。随着分子生物学的发展，双生子研究与组学的结合逐渐成为一种前沿有效的研究方法。疾病表型不一致的双生子对照研究是对传统病例对照研究的有力改进。在妇科疾病方面，西方通过双生子研究解析高加索人群中几种常见妇科病的病因特点，包括盆底疾病、子宫肌瘤、子宫内膜异位症、多囊卵巢综合征等。主要研究发现包括:在女性压力性尿失禁及盆腔器官脱垂中，环境因素的影响均高于遗传因素；遗传因素对子宫肌瘤的发病影响大于环境因素；双生子非共有环境因素对子宫内膜异位症的发生影响较大，不孕与子宫内膜异位症密切相关；遗传因素在多囊卵巢综合征的病因中有重要作用；女性性高潮障碍具有遗传基础等。而目前，尚无在亚洲人群中开展的妇科疾病双生子研究。中国双生子队列现已招募珍贵的2万余对女性双生子，有待系统收集妇科疾病信息，结合分子生物学研究方法，将对我国常见妇科病的认知有所突破，从而能更好地指导我国妇科疾病的诊治。双生子队列的扩建和长期维护将是未来面临的主要困难。 

Research advances of common gynaecological diseases in twin cohorts

Twin study is an economical and effective method to analyse genetic and environmental factors in complex diseases. It is extensively used to explore the aetiology of many diseases. The heritability of diseases has been analysed by comparing the phenotypes of monozygotic twins and dizygotic twins in a classical twin study. With the development of molecular biology, the combination of twin study and omics is becoming an emerging and promising method. The study of twin pairs with inconsistent disease phenotypes is a powerful improvement to the traditional case-control study. In the area of gynaecology, Western countries have used the twin study to analyse the aetiological characteristics of several common gynaecological diseases in the Caucasian population, including pelvic floor disease, uterine leiomyoma, endometriosis, polycystic ovary syndrome, and some other diseases. The main findings include the following: in stress urinary incontinence and pelvic organ prolapse, environmental factors contribute more than genetic factors; genetic factors have a greater impact on the incidence of uterine fibroids than environmental factors; the random environmental effects have a great impact on endometriosis, amongst which infertility is closely related to endometriosis; genetic factors are important in the aetiology of polycystic ovary syndrome; and female orgasmic disorders have a genetic basis, etc. However, no twin study of gynaecological diseases in Asian populations has been conducted. The Chinese National Twin Registry has recruited more than 20 000 pairs of female twins. In combination with molecular biological methods, we believe that a breakthrough in understanding common gynaecological diseases in China will occur and provide better clinical guidance. The main difficulties in the future will be the expansion and long-term maintenance of the twin cohort.