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Vitamin D: Genetics and Genomic Effects

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Vitamin D and the Lung

Part of the book series: Respiratory Medicine ((RM,volume 3))

Abstract

Vitamin D is normally thought of as an environmental factor. However, even when all the factors known to influence vitamin D concentrations, as measured by 25-OH vitamin D (25(OH)D), are taken into account, there is substantial interindividual variability in vitamin D levels. While it is possible that other, undefined, environmental factors contribute to the large interindividual variability noted with 25(OH)D levels, perhaps a more likely explanation for these differences lies in genetics. Indeed, recent studies have demonstrated that 25(OH)D levels are heritable and strongly influenced by variants in key vitamin D regulatory genes. In this chapter, we will review the evidence that supports circulating vitamin D levels as being heritable, discuss the candidate gene studies demonstrating an association of vitamin D pathway genes with 25(OH)D levels, detail the genome-wide association studies (GWAS) performed to date, and relate the significance of data generated via ChIP-Seq methods to interindividual variation in response to vitamin D. Following this overview of the genetic determinants of vitamin D level/activity, we will review the salient studies relating genetic variation within the vitamin D pathway to specific respiratory disease outcomes. While these latter studies are in their relative infancy, they reflect the potential for vitamin D, in combination with genetic variation, to influence pulmonary disease susceptibility and therapy.

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  1. Channing Laboratory, Brigham and Women’s Hospital, Harvard Medical School, 181 Longwood Avenue, Boston, MA, 02115, USA

    Kelan G. Tantisira

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  1. Channing Laboratory, Division of Pulmonary and Critical Care, Harvard Medical School, Brigham and Wome, 181 Longwood Avenue, Boston, 02115, Massachusetts, USA

    Augusto A. Litonjua

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Tantisira, K.G. (2012). Vitamin D: Genetics and Genomic Effects. In: Litonjua, A. (eds) Vitamin D and the Lung. Respiratory Medicine, vol 3. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-888-7_8

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