No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study

Arch Dermatol Res. 2012 Jul;304(5):353-61. doi: 10.1007/s00403-012-1243-3. Epub 2012 May 11.


Melanoma is one of the most aggressive human cancers. The vitamin D system contributes to the pathogenesis and prognosis of malignancies including cutaneous melanoma. An expression of the vitamin D receptor (VDR) and an anti-proliferative effect of vitamin D in melanocytes and melanoma cells have been shown in vitro. Studies examining associations of polymorphisms in genes coding for vitamin D metabolism-related proteins (1α-hydroxylase [CYP27B1], 1,25(OH)(2)D-24hydroxylase [CYP24A1], vitamin D-binding protein [VDBP]) and cancer risk are scarce, especially with respect to melanoma. Mainly VDR polymorphisms regarding melanoma risk and prognosis were examined although other vitamin D metabolism-related genes may also be crucial. In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. Except VDR rs731236 and VDR rs2107301, the other six polymorphisms have not been analyzed regarding melanoma before. To further improve the prevention as well as the treatment of melanoma, it is important to identify further genetic markers for melanoma risk as well as prognosis in addition to the crude phenotypic, demographic, and environmental markers used in the clinic today. A panel of genetic risk markers could help to better identify individuals at risk for melanoma development or worse prognosis. We, however, found that none of the polymorphisms tested was associated with melanoma risk as well as prognosis in logistic and linear regression models in our study population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics
  • Case-Control Studies
  • Cell Proliferation
  • Eye Color
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Hair Color
  • Humans
  • Male
  • Melanoma / genetics*
  • Nevus
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Receptors, Calcitriol / genetics
  • Risk
  • Skin Neoplasms / genetics*
  • Skin Pigmentation
  • Steroid Hydroxylases / genetics
  • Vitamin D / metabolism*
  • Vitamin D-Binding Protein / genetics
  • Vitamin D3 24-Hydroxylase


  • Receptors, Calcitriol
  • Vitamin D-Binding Protein
  • Vitamin D
  • Steroid Hydroxylases
  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase
  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase