Genetic and epigenetic factors influencing vitamin D status

J Cell Physiol. 2018 May;233(5):4033-4043. doi: 10.1002/jcp.26216. Epub 2017 Nov 28.


The global prevalence of vitamin D deficiency appears to be increasing, and the impact of this on human health is important because of the association of vitamin D insufficiency with increased risk of osteoporosis, cardiovascular disease and some cancers. There are few studies on the genetic factors that can influence vitamin D levels. In particular, the data from twin and family-based studies have reported that circulating vitamin D concentrations are partially determined by genetic factors. Moreover, it has been shown that genetic variants (e.g., mutation) and alteration (e.g., deletion, amplification, inversion) in genes involved in the metabolism, catabolism, transport, or binding of vitamin D to it receptor, might affect vitamin D level. However, the underlying genetic determinants of plasma 25-hydroxyvitamin D3 [25(OH)D] concentrations remain to be elucidated. Furthermore, the association between epigenetic modifications such as DNA methylation and vitamin D level has now been reported in several studies. The aim of current review was to provide an overview of the possible value of loci associated to vitamin D metabolism, catabolism, and transport as well epigenetic modification and environmental factors influencing vitamin D status.

Keywords: CYP2R1; Vitamin D; epigenetic; genome-wide association study; polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Calcifediol / blood
  • Calcifediol / genetics*
  • DNA Methylation / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide
  • Vitamin D / genetics*
  • Vitamin D / metabolism
  • Vitamin D Deficiency / blood
  • Vitamin D Deficiency / genetics*
  • Vitamin D Deficiency / pathology


  • Vitamin D
  • Calcifediol