RGD Reference Report - Genetic variants of the vitamin D receptor gene alter risk of cutaneous melanoma. - Rat Genome Database

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Genetic variants of the vitamin D receptor gene alter risk of cutaneous melanoma.

Authors: Li, C  Liu, Z  Zhang, Z  Strom, SS  Gershenwald, JE  Prieto, VG  Lee, JE  Ross, MI  Mansfield, PF  Cormier, JN  Duvic, M  Grimm, EA  Wei, Q 
Citation: Li C, etal., J Invest Dermatol. 2007 Feb;127(2):276-80. Epub 2006 Sep 21.
RGD ID: 8157629
Pubmed: PMID:16990805   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.jid.5700544   (Journal Full-text)

Sunlight causes DNA damage but also induces production of vitamin D whose metabolite 1,25-(OH)2D3 has antiproliferative and pro-differentiative effects in both melanocytes and cutaneous melanoma (CM) cells mediated through the vitamin D receptor (VDR). We hypothesized that genetic polymorphisms of VDR are associated with risk of CM. In a hospital-based case-control study of 602 non-Hispanic white CM patients and 603 cancer-free control subjects frequency matched by age and sex, we genotyped two VDR polymorphisms (TaqI and FokI) and assessed their association with CM risk. We found that a significantly decreased risk was associated with VDR-TaqI Tt (adjusted odds ratio (OR), 0.70; 95% confidence interval (CI), 0.54-0.90) and Tt+tt (OR=0.70; 95% CI, 0.55-0.89) genotypes, compared with the VDR-TaqI TT genotype, whereas an increased risk was associated with VDR-FokI Ff genotype (OR=1.32; 95% CI, 1.03-1.68), and a borderline significantly increased risk was associated with Ff+ff (OR=1.26; 95% CI, 1.00-1.59) genotypes, compared with the VDR-FokI FF genotype. In conclusion, genetic variants (i.e., TaqI t protective allele and FokI f risk allele) in VDR may alter risk of CM.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
skin melanoma susceptibilityIAGP 8157629DNA:missense mutation more ...RGD 
skin melanoma susceptibilityISOVDR (Homo sapiens)8157629; 8157629DNA:missense mutation more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cutaneous melanoma susceptibilityIAGP 8157629DNA:missense mutation 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