Institute of Clinical Research, Unit of Human Genetics, University of Southern Denmark, Sdr. Boulevard 29, Odense, Denmark.
Gynecol Endocrinol. 2013 Oct;29(10):878-82. doi: 10.3109/09513590.2013.819081. Epub 2013 Jul 29.
Polycystic ovarian syndrome is universally the most common endocrinopathy in women of reproductive age. It is characterized by composite clinical phenotypes reflecting the reproductive impact of ovarian dysfunction (androgen excess, oligo-/anovulation, polycystic ovary) and metabolic abnormalities (insulin resistance, obesity) with widely varying symptoms among the affected. Studies have shown a clear pattern of disparity in clinical manifestations of its component phenotypes across ethnic populations. Recent genetic association studies suggested differential genetic background that could contribute to the observed ethnic disparity. We summarize the current status in genetic studies of the disorder in different populations with a focus on ethnicity. Especially, we highlight and discuss the applications of recent developments in DNA sequencing, global transcriptional and epigenetic profiling that could help to unravel the molecular basis of the interethnic difference in the pathogenesis of the syndrome. It is hoped that identification and characterization of population-specific structural genetic and functional genomic patterns could help to not only deepen our understanding of the aetiology but also develop more efficient strategies for treatment and prevention of polycystic ovarian syndrome.
多囊卵巢综合征是生殖年龄段女性最常见的内分泌疾病。其特征是多种临床表型，反映了卵巢功能障碍（高雄激素血症、排卵障碍/稀发排卵、多囊卵巢）和代谢异常（胰岛素抵抗、肥胖）的生殖影响，受影响者的症状差异很大。研究表明，其组成表型的临床表现在不同种族人群中存在明显的差异模式。最近的遗传关联研究表明，遗传背景的差异可能导致观察到的种族差异。我们总结了不同人群中该疾病的遗传研究现状，重点关注种族差异。特别是，我们强调并讨论了 DNA 测序、全转录组和表观遗传谱分析等最新进展的应用，这些进展可能有助于揭示该综合征发病机制中种族间差异的分子基础。希望识别和描述特定人群的结构遗传和功能基因组模式，不仅有助于加深我们对病因的理解，还能为多囊卵巢综合征的治疗和预防制定更有效的策略。
