Journal
CALCIFIED TISSUE INTERNATIONAL
Volume 92, Issue 2, Pages 106-117Publisher
SPRINGER
DOI: 10.1007/s00223-012-9660-z
Keywords
Vitamin D; Heritability; Candidate gene; Genomewide association study
Categories
Funding
- Canadian Foundation for Innovation
- Canadian Institutes of Health Research (CIHR)
- Fonds de la recherche en sante du Quebec
- Ministere du Developpement Economique
- Innovation et Exportation du Quebec
- Lady Davis Institute
- Jewish General Hospital
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Vitamin D plays several roles in the body, influencing bone health as well as serum calcium and phosphate levels. Further, vitamin D may modify immune function, cell proliferation, differentiation, and apoptosis. Vitamin D deficiency has been associated with numerous health outcomes, including bone disease, cancer, autoimmune disease, infectious disease, type 1 and type 2 diabetes, hypertension, and heart disease, although it is unclear whether or not these associations are causal. Various twin and family studies have demonstrated moderate to high heritability for circulating vitamin D levels. Accordingly, many studies have investigated the genetic determinants of this hormone. Recent advances in the methodology of large-scale genetic association studies, including coordinated international collaboration, have identified associations of CG, DHCR1, CYP2R1, VDR, and CYP24A1 with serum levels of vitamin D. Here, we review the genetic determinants of vitamin D levels by focusing on new findings arising from candidate gene and genomewide association studies.
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