Abstract: Polycystic ovary syndrome（PCOS） is a highly complex endocrine disorder，characterized by oligomenorrhea or amenorrhea，hyperandrogenemia，and polycystic ovaries. Genetic factors play important roles in PCOS etiology，and many candidate genes have been identified. Currently，the proposed susceptible genes include those involved in the regulation of steroid hormone biosynthesis and function，chronic inflammation，and insulin and TGF-β signaling pathway. The promising start of genome-wide association study（GWAS） provides new insights into the pathogenesis of PCOS. However，due to the genetic and phenotypic heterogeneity of PCOS，there is not a conclusion on the specific contributing genes of PCOS. In this review，we discussed the progress of the genetic analysis of PCOS.

Key words: Polycystic ovary syndrome, Genes, Genetic research, Polymorphism, single nucleotide, Genome-wide association study