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Genetic Regulation of Vitamin D Levels

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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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Acknowledgments

This work was supported by grants from the Canadian Foundation for Innovation, Canadian Institutes of Health Research (CIHR), Fonds de la recherche en sante du Québec, Ministère du Développement Economique, Innovation et Exportation du Québec, Lady Davis Institute, and Jewish General Hospital. B. R. and Z. D. are supported by the CIHR.

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  1. Department of Epidemiology, Biostatistics and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, QC, H3T 1E2, Canada

    Zari Dastani, Rui Li & Brent Richards

  2. Departments of Medicine and Human Genetics, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, QC, H3T 1E2, Canada

    Brent Richards

  3. Department of Twin Research and Genetic Epidemiology, King’s College London, London, SE1 7EH, UK

    Brent Richards

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  1. Zari Dastani
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Correspondence to Brent Richards.

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Dastani, Z., Li, R. & Richards, B. Genetic Regulation of Vitamin D Levels. Calcif Tissue Int 92, 106–117 (2013). https://doi.org/10.1007/s00223-012-9660-z

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