Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review

J Obstet Gynaecol Res. 2017 Mar;43(3):436-446. doi: 10.1111/jog.13250. Epub 2017 Jan 27.


Polycystic ovary syndrome (PCOS) is the most frequent endocrinological disorder that affects women of reproductive age, leading to metabolic alterations, such as hyperandrogenism, obesity, menstrual irregularities, insulin resistance, and polycystic ovaries. The etiology remains unclear, but several genetic and environmental factors have been correlated with manifestations of this syndrome. Vitamin D plays important roles in metabolic pathways affected by PCOS, including calcium homeostasis, the insulin pathway, and sex hormone synthesis. Vitamin D concentration has been related with the severity of this disorder, and vitamin D receptor polymorphisms have been shown in some studies to have an association with some of the patterns presented by PCOS. The objective of this study is to provide an up-to-date review about vitamin D receptor polymorphisms and their association with PCOS.

Keywords: hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; polymorphisms; vitamin D receptor.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Female
  • Humans
  • Polycystic Ovary Syndrome / blood
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Genetic
  • Receptors, Calcitriol / genetics*
  • Vitamin D / blood


  • Receptors, Calcitriol
  • Vitamin D