Barber T M, Franks S
a Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK.
b Institute of Reproductive and Developmental Biology (S.F.), Imperial College (Hammersmith Campus), London, W12 0NN, UK.
Expert Rev Endocrinol Metab. 2010 Jul;5(4):549-561. doi: 10.1586/eem.10.32.
Polycystic ovary syndrome (PCOS) is associated with obesity and manifests with reproductive, hyperandrogenic and metabolic features. Although the etiology of PCOS is complex and incompletely understood, genetics plays an important role (heritability: ∼70%). Potential problems with studying the genetics of PCOS include the heterogeneity of the condition and associated sub-fertility. A candidate gene approach has been used in over 70 published studies on PCOS, most of which have been inadequately powered to detect a statistically meaningful association. Furthermore, these studies often fail to replicate prior published studies on the same candidate gene in different populations. The first genome-sequence variant (identified from a genome-wide association study in subjects with Type 2 diabetes mellitus) to be studied in PCOS (FTO gene) has been shown by our group to associate with susceptibility for the development of PCOS. This is the first genetic corroboration of a link between PCOS and obesity. Future directions include a genome-wide association study in PCOS.
多囊卵巢综合征（PCOS）与肥胖相关，具有生殖、高雄激素血症和代谢特征。尽管PCOS的病因复杂且尚未完全明确，但遗传学起着重要作用（遗传度约为70%）。研究PCOS遗传学存在的潜在问题包括该疾病的异质性以及相关的生育力低下问题。候选基因法已用于70多项已发表的关于PCOS的研究，其中大多数研究在检测具有统计学意义的关联方面能力不足。此外，这些研究往往未能在不同人群中重复先前发表的关于同一候选基因的研究。我们团队已证实，首个在PCOS中研究的基因组序列变异（从2型糖尿病患者的全基因组关联研究中鉴定）（FTO基因）与PCOS发生易感性相关联。这是PCOS与肥胖之间存在联系的首个遗传学证据。未来方向包括针对PCOS开展全基因组关联研究。
