Abstract: Polycystic ovary syndrome（PCOS） is a common, complex endocrine/metabolic disease characterized by hyperandrogenism, ovulatory dysfunction, insulin resistance and polycystic ovaries. PCOS occurs in approximately 4%-12% women of reproductive age, and is the leading reason for anovulatory infertility. It has been proven to be a familial inheritance; however, genes that may be involved in the etiology of PCOS have not been fully investigated. Up to date, the susceptible genes are mainly related to the androgen, insulin resistance and fat metabolic. Because of the heterogeneity of the syndrome, we still have no idea of a definite pathogenic gene. It is thought that PCOS is the concomitant result of many genes and environmental factors. Currently，the research methods of PCOS include the transmission disequilibrium tests，the candidate gene study and the genome-wide association study（GWAS）. Especially the GWAS, which was said to achieve a major milestone.

Key words: Polycystic ovary syndrome, Genes, Polymorphism, Genetic, Hyperandrogenism, Insulin