复发性自然流产（recurrent spontaneous abortion，RSA）和子痫前期（preeclampsia，PE）临床表现高度异质、病因复杂，是影响人类生殖健康的主要疾病。目前，这两种疾病的发病率居高不下，并缺乏有效的预测和治疗手段。本课题组通过PE和RSA病人进行单核苷酸多态性和拷贝数变异进行检测，发现了多个可能的候选基因和CNVs位点，表明PE和RSA可能是多基因遗传和表观遗传修饰协同作用导致的疾病，但其具体的分子机制尚不清楚。因此，本课题拟通过建立完善的疾病资源库，综合运用高通量的全基因组、外显子组SNPs谱和染色体CNVs关联分析，结合动物疾病模型，筛选和甄别PE及RSA的特异遗传和/或表观遗传标记及易感基因，阐释PE及RSA发病的遗传/表观遗传分子基础，探索可用于相关疾病预测、诊断和干预的综合措施，为提高人类生殖健康水平提供切实可行的科学指导。

The major pregnancy related diseases, preeclampsia（PE）and recurrent spontaneous abortion（RSA）are two main reasons that harms human fertility health. Up to now, the morbidity of these two diseases is very high, which lacks effective methods for forecasting and curing. The main reasons for these adversities are that their clinical features are disparate, and their pathogenesis is complicated. More and more evidence supports that PE and RSA are the consequence of the genetic and epigenetic cooperative interaction of multi-genes. We have detected the peripheral blood of severe PE by the way of genome-wide association studies and exon single nucleotide polymorphisms, and the samples from RSA patients by the way of copy number variations, and have obtained valuable information. So we plan to conduct intensive investigations on the associate genes and sites discovered during our former study; take advantage of the abundant clinical resources of our country, built adequate depository, then to excavate the potential susceptible loci, so to establish the genetic and epigenetic markers for PE and RSA. Converting the therapy of the diseases in the past to risk profile and early warning, so to provide technical support for improving female reproductive health and harmony society.