全基因组关联研究在多囊卵巢综合征中的研究进展

Research Progress in Genome-Wide Association Studies for Polycystic Ovary Syndrome

多囊卵巢综合征(PCOS)是育龄女性常见的具有高度异质性的内分泌疾病,以月经不调、性激素紊乱、生殖能力下降为主要特征。遗传因素在PCOS发病机制中发挥重要作用。近年来,通过家系、双胞胎、候选基因研究探索PCOS的遗传基因及发病机制的结论尚不统一。随着人类基因组单倍体图谱计划的实施以及高通量基因分型技术的成熟,全基因组关联研究(GWAS)等组学技术为寻找复杂多基因遗传疾病易感基因提供了更加全面、客观的研究手段。近年来,对不同种族人群PCOS开展的GWAS为进一步研究PCOS的发病机制提供了理论依据。

Polycystic ovary syndrome(PCOS)is a common endocrine disease with high heterogeneity in women of childbearing age.It is characterized by irregular menstruation,sexual hormone disorder and decreased reproductive ability.Genetic factors play an important role in its etiology and pathogenesis.In recent years,many researchers explored the genetic genes and pathogenesis of PCOS through family,twin and candidate gene research,and the conclusions are not unified yet.With the implementation of the human genome haploid mapping project and the maturity of high-throughput genotyping technology,genome-wide association studies(GWAS)and other omics technologies can provide more comprehensive and objective research methods for finding the susceptibility genes of complex polygenetic diseases.Here summarizes the application of GWAS in the genetic research of PCOS in different ethnic groups in recent years,and provides a theoretical basis for further research on the pathogenesis of PCOS.