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Genetic Regulation of Vitamin D Levels
Authors:Zari Dastani  Rui Li  Brent Richards
Affiliation:1. Department of Epidemiology, Biostatistics and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, QC, H3T 1E2, Canada
2. Departments of Medicine and Human Genetics, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, QC, H3T 1E2, Canada
3. Department of Twin Research and Genetic Epidemiology, King’s College London, London, SE1 7EH, UK
Abstract: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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