Department of Obstetrics and Gynecology, Division of Urogynecology, Duke University, Durham, NC, USA.
Am J Obstet Gynecol. 2013 May;208(5):360-5. doi: 10.1016/j.ajog.2012.11.030. Epub 2012 Nov 27.
Genetic epidemiology, the study of genetic contributions to risk for disease, is an innovative area in medicine. Although research in this arena has advanced in other disciplines, few genetic epidemiological studies have been conducted in obstetrics and gynecology. It is crucial that we study the genetic susceptibility for issues in women's health because this information will shape the new frontier of personalized medicine. To date, preterm birth may be one of the best examples of genetic susceptibility in obstetrics and gynecology, but many areas are being evaluated including endometriosis, fibroids, polycystic ovarian syndrome, and pelvic floor disorders. An essential component to genetic epidemiological studies is to characterize, or phenotype, the disorder to identify genetic effects. Given the growing importance of genomics and genetic epidemiology, we discuss the importance of accurate phenotyping of clinical disorders and highlight critical considerations and opportunities in phenotyping, using pelvic organ prolapse as a clinical example.
遗传流行病学是研究遗传因素对疾病风险的影响，是医学领域的一个创新领域。尽管这一领域的研究在其他学科已经取得了进展，但在妇产科领域进行的遗传流行病学研究却很少。我们必须研究女性健康问题的遗传易感性，因为这些信息将塑造个性化医学的新前沿。迄今为止，早产可能是妇产科遗传易感性的最佳范例之一，但许多领域正在评估，包括子宫内膜异位症、肌瘤、多囊卵巢综合征和盆底疾病。遗传流行病学研究的一个重要组成部分是对疾病进行特征描述或表型分析，以确定遗传效应。鉴于基因组学和遗传流行病学的重要性日益增加，我们讨论了对临床疾病进行准确表型分析的重要性，并以盆腔器官脱垂为例，强调了表型分析中的关键考虑因素和机会。
