RGD Reference Report - The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo. - Rat Genome Database

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The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo.

Authors: Li, K  Shi, Q  Yang, L  Li, X  Liu, L  Wang, L  Li, Q  Wang, G  Li, CY  Gao, TW 
Citation: Li K, etal., Br J Dermatol. 2012 Oct;167(4):815-21. doi: 10.1111/j.1365-2133.2012.11132.x.
RGD ID: 8158066
Pubmed: PMID:22762534   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2133.2012.11132.x   (Journal Full-text)

BACKGROUND: Vitiligo is an acquired depigmentation autoimmune disorder that has been described as being associated with lower levels of 25-hydroxyvitamin D [25(OH)D]. Genetic variations within the vitamin D receptor (VDR) gene could lead to significant receptor dysfunction, and could further affect the formation of the biologically active 25(OH)D. Therefore, we hypothesized that VDR polymorphisms might be involved in vitiligo by affecting the formation of 25(OH)D. OBJECTIVES: To evaluate the potential association between VDR polymorphisms and vitiligo susceptibility and the serum levels of 25(OH)D. METHODS: We performed a hospital-based study of 749 patients with vitiligo and 763 matched controls. We investigated four VDR polymorphisms (FokI, BsmI, ApaI and TaqI) to determine whether they are associated with vitiligo susceptibility in the Chinese population. In addition, the levels of 25(OH)D were measured to evaluate possible associations between the VDR polymorphic variants and clinical and laboratory findings of vitiligo. RESULTS: A significantly decreased risk of developing vitiligo was found to be associated with the BsmI-B, ApaI-A and TaqI-t alleles. According to the genotype distribution, 25(OH)D concentrations were significantly higher in patients carrying the FokI ff or ApaI AA genotypes compared with those carrying the FF or aa genotypes. Logistic regression analysis also showed a dose-response relationship between decreased risk of vitiligo and increased 25(OH)D levels in ApaI-A variant genotype carriers. CONCLUSIONS: Our findings suggest that these VDR polymorphisms are associated with 25(OH)D levels and that there exists a genetic predisposition for vitiligo in the Chinese population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
vitiligo no_associationIAGP 8158066DNA:SNP:exon:rs2228570 (human)RGD 
vitiligo  IAGP 8158066DNA:SNPs: :rs731236 more ...RGD 
vitiligo no_associationISOVDR (Homo sapiens)8158066; 8158066DNA:SNP:exon:rs2228570 (human)RGD 
vitiligo  ISOVDR (Homo sapiens)8158066; 8158066DNA:SNPs: :rs731236 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information