title: Vitamin D receptor variants and the malignant melanoma risk: a population-based study.
abstract: BACKGROUND
  There is continuing interest in identifying low-penetrance genes which are associated with an increased susceptibility to common types of cancer, including malignant melanoma.
  
  
  METHODS
  We sought to examine the association between four VDR common variants (rs1544410, rs731236, rs10735810, rs4516035) and the risk of melanoma in the Polish population. We also determined the prevalence of compound carriers of VDR and known MM genetic risk factors MC1R and CDKN2A (A148T) variants. We examined 763 unselected melanoma cases, 763 healthy adults matched for sex and age with the melanoma cases and 777 newborns.
  
  
  RESULTS
  None of the VDR variants alone or as compound carriers of two or more of the VDR genotypes were associated with MM risk. There were no major differences between the prevalences of the examined variants among patients with MM on UV-exposed and UV-non exposed skin areas, as well as among early-onset and late-onset cases. We found no association between VDR and MC1R or between VDR and CDKN2A common variants. A statistically significant over-representation of one VDR haplotype: rs731236_A+rs1544410_T (OR=3.2, p=0.02) was detected. Linkage disequilibrium of rs1544410 and rs731236 was confirmed.
  
  
  CONCLUSIONS
  To answer the question, whether VDR can be regarded as melanoma susceptibility gene, additional, large multi-center association studies have to be performed.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
authors.forename: P
authors.initials: P
authors.lastname: Gapska
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
authors.forename: P
authors.initials: P
authors.lastname: Serrano-Fernandez
authors.forename: A
authors.initials: A
authors.lastname: Mirecka
authors.forename: I
authors.initials: I
authors.lastname: Rassoud
authors.forename: B
authors.initials: B
authors.lastname: Górski
authors.forename: C
authors.initials: C
authors.lastname: Cybulski
authors.forename: T
authors.initials: T
authors.lastname: Huzarski
authors.forename: T
authors.initials: T
authors.lastname: Byrski
authors.forename: L
authors.initials: L
authors.lastname: Nagay
authors.forename: R
authors.initials: R
authors.lastname: Maleszka
authors.forename: M
authors.initials: M
authors.lastname: Sulikowski
authors.forename: J
authors.initials: J
authors.lastname: Lubinski
authors.forename: T
authors.initials: T
authors.lastname: Debniak
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D008297:Male; D008545:Melanoma / Q000453:epidemiology* / Q000235:genetics*; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D011379:Prognosis; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D044102:Receptor, Melanocortin, Type 1; D018167:Receptors, Calcitriol