Introduction:

Early studies in relatives of women with polycystic ovary syndrome demonstrated a pattern of familial aggregation and thus the possibility of a genetic component in its etiopathogenesis. Since then, much research has been done on this subject.

Objective:

To update the evidence according to the literature on the genetic basis of polycystic ovary syndrome.

Methods:

A literature review of the last 10 years on genetic aspects of polycystic ovary syndrome was performed in Pubmed, Google Scholar, EMBASE and MEDLINE databases.

Conclusions:

It was shown that in this period progress has been made in the elucidation and involvement of multiple genes and loci in the pathogenesis of the syndrome. There is a significant association in different populations and ethnicities of the DENND1A and TADHA gene, which are located on chromosomes 9 and 2, respectively. In addition, genome-wide association studies (GWAS) have been performed and have identified other genes on chromosomes such as 9q22.32, 11q22.1, 12q13.2, 19p13.3, 16 q12.1, 20q13.2, 12q14.3 (C9orf3, YAP1, RAB5B, INSR, TOX3, SUMO1P1 and HMGA2). This review allows an update of the subject and to expand the knowledge on aspects related to the genetic origin of PCOS, as well as to conclude that PCOS has a polygenic origin and is one of the so-called complex diseases.

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