title: Vitamin D in health and disease: a literature review.
abstract: 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.
authors.affiliation: Center for Genetics and Inherited Diseases, Taibah University, Madinah Al-Munawara, Saudi Arabia. sbasit.phd@gmail.com
authors.forename: S
authors.initials: S
authors.lastname: Basit
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics; D017209:Apoptosis; D001249:Asthma / Q000378:metabolism; D002454:Cell Differentiation; D049109:Cell Proliferation; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D000072467:Cytochrome P450 Family 2; D003920:Diabetes Mellitus / Q000378:metabolism; D023281:Genomics; D006801:Humans; D007246:Infertility / Q000378:metabolism; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D009369:Neoplasms / Q000378:metabolism; D010018:Osteomalacia / Q000209:etiology; D018167:Receptors, Calcitriol / Q000235:genetics; D012279:Rickets / Q000209:etiology; D013250:Steroid Hydroxylases / Q000235:genetics; D014807:Vitamin D / Q000378:metabolism* / Q000502:physiology*; D014808:Vitamin D Deficiency / Q000175:diagnosis / Q000209:etiology; D065668:Vitamin D3 24-Hydroxylase
chemical_list: D018167:Receptors, Calcitriol; D014807:Vitamin D; D013250:Steroid Hydroxylases; D000072467:Cytochrome P450 Family 2; C506833:CYP2R1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D065668:Vitamin D3 24-Hydroxylase; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase