多囊卵巢综合征（PCOS）是一种最常见的育龄女性内分泌疾病，影响约6%-10%的育龄女性。DNA甲基化是表观遗传的重要表现形式及调控机制。大量DNA甲基化位点已经被发现与多种疾病相关。研究提示DNA甲基化在PCOS中发挥重要作用。但是，迄今为止，国际国内尚未有任何研究揭示特定基因的甲基化与PCOS的关系。人类基因组中有哪些基因的甲基化与疾病相关，其分子机制如何，这正是本课题所要聚焦的重要科学问题。.本课题以外周血及子宫内膜样本为基础，利用甲基化DNA结合蛋白亲和层析结合全基因组深度测序，首先建立对照疾病全基因组甲基化差异谱；同时，建立对照疾病转录组差异谱；生物信息学得到转录变化与甲基化变化相适应的候选基因；利用MassARRAY技术在大样本中对候选基因的CpG岛甲基化进行验证；最后，以颗粒细胞为模型，研究差异甲基化基因致病的分子机制。最终全面地揭示DNA甲基化在PCOS中的作用及机制。

Polycystic Ovary Syndrome(PCOS) is one of the most common endocrine/metabolic disorders in women of reproductive age. Its prevalence is estimated at between 5% and 10% in the general population. DNA methylation is an important aspect of epigenetics and gene regulation. DNA methyaltion factor has been reported to be associated with various kinds of diseases.However, up till now, there is no study on epigenetic methylation of PCOS..In the study, by using DNA methylation binding protein affinity chromatography and highthroughput sequencing technology, we first demonstrate the whole-genome DNA methylation differentiated profile based on pheripheral blood and endometrium samples. Then, differentiated gene expression profile is built by illumina HT-12 microarray. By bioinformatics on combining the data of DNA methylation profile and gene expression profile, candidate genes associated with PCOS are founded.We then validate genes in a large sample size by using Massarray quantitative methylation analysis. Last, we study the function of genes in Granulosal cells. We believe that we can finally systematically demonstrate the important role of epigenetic methylation factor in PCOS and findings could promote the study of mechanism of the disease and the development of the treatment.