RGD Reference Report - Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma. - Rat Genome Database

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Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma.

Authors: Hutchinson, PE  Osborne, JE  Lear, JT  Smith, AG  Bowers, PW  Morris, PN  Jones, PW  York, C  Strange, RC  Fryer, AA 
Citation: Hutchinson PE, etal., Clin Cancer Res. 2000 Feb;6(2):498-504.
RGD ID: 8158068
Pubmed: PMID:10690530   (View Abstract at PubMed)

Calcitriol [1,25(OH)2D3], the hormonal derivative of vitamin D3, is an antiproliferative and prodifferentiation factor for several cell types, including cultured melanocytes and malignant melanoma (MM) cells. Several polymorphisms of the vitamin D receptor (VDR) gene have been described including a FokI RFLP in exon 2, BsmI, and ApaI polymorphisms in intron 8 and an adjacent TaqI RFLP in exon 9. Alterations in vitamin D/1,25(OH)2D3 levels and polymorphisms of the VDR have been shown to be associated with several systemic malignancies. We hypothesize that polymorphism in this gene may be associated with altered susceptibility and outcome in patients with MM. A hospital-based case-control study, using 316 MM cases and 108 controls, was used to assess associations with MM susceptibility. Breslow thickness, the most important single prognostic factor in MM, was used as the outcome measure. Polymorphisms at the FokI and TaqI restriction sites were determined using PCR-based methods. Polymorphism at the FokI, but not TaqI, RFLP was associated with an altered risk of MM (P = 0.014). More importantly, variant alleles were associated with increased Breslow thickness. Thus, homozygosity for variant alleles at both RFLP (ttff genotype combination) was significantly associated with thicker tumors. (> or = 3.5 mm; P = 0.001; odds ratio = 31.5). Thus, polymorphisms of the VDR gene, which would be expected to result in impaired function, are associated with susceptibility and prognosis in MM. These data suggest that 1,25(OH)2D3, the ligand of the VDR, may have a protective influence in MM, as has been proposed for other malignancies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
melanoma disease_progressionIAGP 8158068DNA:SNPs:exons: (rs731236 and rs2228570) (human)RGD 
melanoma disease_progressionISOVDR (Homo sapiens)8158068; 8158068DNA:SNPs:exons: (rs731236 and rs2228570) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cutaneous melanoma disease_progressionIAGP 8158068DNA:SNPs:exons: (rs731236 and rs2228570)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