Genetics of polycystic ovary syndrome

Kateryna Mykhalchenko, Daria Lizneva, Tatiana Trofimova, Walidah Walker, Larisa Suturina, Michael P. Diamond, Ricardo Azziz

Research output: Contribution to journalReview articlepeer-review

63 Scopus citations


Introduction: Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies. PubMed, Medline and Embase database were used to search relevant articles. Included studies were predominately conducted in Asia, North Africa, North America, and Europe. Expert commentary: Current studies aim to establish the role and function of identified genes; such efforts could serve as potential platforms for novel diagnostic and treatments for PCOS patients. The etiology of PCOS will be better understood as more data is gathered systematically, subjects are better phenotyped larger populations are recruited, and a better understanding of the role of genetic architecture, genetic variation, epigenetics, and gene-gene, gene-environment, and gene-phenotype interaction is obtained.

Original languageEnglish
Pages (from-to)723-733
Number of pages11
JournalExpert Review of Molecular Diagnostics
Issue number7
StatePublished - 3 Jul 2017
Externally publishedYes


  • GWAS
  • Genetics
  • PCOS
  • SNP
  • complex genetic trait
  • genome wide associated studies
  • hyperandrogenism
  • polycystic ovary syndrome


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