Vitamin D in health and disease: a literature review

Br J Biomed Sci. 2013;70(4):161-72. doi: 10.1080/09674845.2013.11669951.


Vitamin D, a fat-soluble prohormone, is synthesised in response to sunlight. Vitamin D requires two metabolic conversions, 25-hydroxylation in the liver and 1alpha-hydroxylation in the kidney, to become active hormone. The active form, 1alpha,25-(OH)2D, binds to the vitamin D receptor (VDR) to modulate gene transcription and regulate mineral ion homeostasis. Vitamin D plays several roles in the body, influencing bone health as well as serum calcium and phosphate levels. Furthermore, vitamin D may modify immune function, cell proliferation, differentiation and apoptosis. Vitamin D deficiency has been associated with numerous health outcomes, including risk of rickets in children or osteomalacia in adults, increased risk of fractures, falls, cancer, autoimmune disease, infectious disease, type 1 and type 2 diabetes, hypertension and heart disease, and other diseases such as multiple sclerosis. Here, vitamin D physiology and metabolism, its genomic action and association of polymorphisms in vitamin D pathway genes with different diseases are reviewed by focusing on new findings published in the literature.

Publication types

  • Review

MeSH terms

  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics
  • Apoptosis
  • Asthma / metabolism
  • Cell Differentiation
  • Cell Proliferation
  • Cholestanetriol 26-Monooxygenase / genetics
  • Cytochrome P450 Family 2
  • Diabetes Mellitus / metabolism
  • Genomics
  • Humans
  • Infertility / metabolism
  • Kidney / metabolism
  • Liver / metabolism
  • Neoplasms / metabolism
  • Osteomalacia / etiology
  • Receptors, Calcitriol / genetics
  • Rickets / etiology
  • Steroid Hydroxylases / genetics
  • Vitamin D / metabolism*
  • Vitamin D / physiology*
  • Vitamin D Deficiency / diagnosis
  • Vitamin D Deficiency / etiology
  • Vitamin D3 24-Hydroxylase


  • Receptors, Calcitriol
  • Vitamin D
  • Steroid Hydroxylases
  • Cytochrome P450 Family 2
  • CYP2R1 protein, human
  • Cholestanetriol 26-Monooxygenase
  • Vitamin D3 24-Hydroxylase
  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase