2017
DOI: 10.1093/hmg/ddx092
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Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease

Abstract: Large numbers of statistically significant associations between sentinel SNPs and case-control status have been replicated by genome-wide association studies. Nevertheless, few underlying molecular mechanisms of complex disease are currently known. We investigated whether variation in binding of a transcription factor, the vitamin D receptor (VDR), whose activating ligand vitamin D has been proposed as a modifiable factor in multiple disorders, could explain any of these associations. VDR modifies gene express… Show more

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Cited by 28 publications
(24 citation statements)
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“…(136) Additionally, in both cell lines and human T cells, when cells were cultured in the presence of low serum 25D, it was shown that there was decreased binding of the VDR to multiple gene variants commonly identified in GWASs to predispose to autoimmune disease. (137) The above studies highlight the complex nature of disease susceptibility, but strongly suggest a role for vitamin D in limiting the pathogenicity of T-cell-mediated autoimmune diseases.…”
Section: Vdr Polymorphisms and Inflammatory Diseasementioning
confidence: 99%
“…(136) Additionally, in both cell lines and human T cells, when cells were cultured in the presence of low serum 25D, it was shown that there was decreased binding of the VDR to multiple gene variants commonly identified in GWASs to predispose to autoimmune disease. (137) The above studies highlight the complex nature of disease susceptibility, but strongly suggest a role for vitamin D in limiting the pathogenicity of T-cell-mediated autoimmune diseases.…”
Section: Vdr Polymorphisms and Inflammatory Diseasementioning
confidence: 99%
“…As proof of concept for the role of vitamin D in the pathogenesis of IBD, the vitamin D receptor gene maps to a region of chromosome 12, which is also linked to IBD [36]. Moreover, polymorphisms of the vitamin D receptor have been linked to IBD phenotypes, pointing toward a relationship between altered affinity of vitamin D to its receptor and IBD [49][50][51][52][53][54][55].…”
Section: Discussionmentioning
confidence: 99%
“…The VDR gene is located in a chromosome 12 region that has been linked to IBD by genome screening techniques. Genetic variation might alter the binding affinity of the vitamin D VDR and it was associated with immune and inflammatory disease, including IBD [36].…”
Section: Vdr Gene and Ibdmentioning
confidence: 99%
“…However, unlike other nutrients, it is also synthesized in the skin in response to exposure to ultraviolet B (UVB) radiation (e.g., from sunlight). While vitamin D sufficiency is closely tied with bone 3 health(1), it has also been linked to a number of other disease states from cancer (2) to autoimmune disorders (3) to dementia (4). Along with direct measurement of circulating 25-hydroxy vitamin D (25(OH)D) levels, surveys and questionnaires are often used to estimate vitamin D related exposures such as sunlight exposure, tanning bed use, dietary intake, and supplement use.…”
Section: Introductionmentioning
confidence: 99%