Vitamin D receptor polymorphisms in patients with cutaneous melanoma Journal Article


Authors: Orlow, I.; Roy, P.; Reiner, A. S.; Yoo, S.; Patel, H.; Paine, S.; Armstrong, B. K.; Kricker, A.; Marrett, L. D.; Millikan, R. C.; Thomas, N. E.; Gruber, S. B.; Anton-Culver, H.; Rosso, S.; Gallagher, R. P.; Dwyer, T.; Kanetsky, P. A.; Busam, K.; From, L.; Begg, C. B.; Berwick, M.
Article Title: Vitamin D receptor polymorphisms in patients with cutaneous melanoma
Abstract: The vitamin D receptor (VDR) gene has been associated with cancer risk, but only a few polymorphisms have been studied in relation to melanoma risk and the results have been inconsistent. We examined 38 VDR gene single nucleotide polymorphisms (SNPs) in a large international multicenter population-based case-control study of melanoma. Buccal DNAs were obtained from 1,207 people with incident multiple primary melanoma and 2,469 with incident single primary melanoma. SNPs with known or suspected impact on VDR activity, haplotype tagging SNPs with ≥10% minor allele frequency in Caucasians, and SNPs reported as significant in other association studies were examined. Logistic regression was used to calculate the relative risks conferred by the individual SNP. Eight of 38 SNPs in the promoter, coding, and 3′ gene regions were individually significantly associated with multiple primary melanoma after adjusting for covariates. The estimated increase in risk for individuals who were homozygous for the minor allele ranged from 25 to 33% for six polymorphisms: rs10875712 (odds ratios [OR] 1.28; 95% confidence interval (CI), 1.01-1.62), rs4760674 (OR 1.33; 95% CI, 1.06-1.67), rs7139166 (OR 1.26; 95%CI, 1.02-1.56), rs4516035 (OR 1.25; 95%CI, 1.01-1.55), rs11168287 (OR 1.27; 95%CI, 1.03-1.57) and rs1544410 (OR 1.30; 95%CI, 1.04-1.63); for two polymorphisms, homozygous carriers had a decreased risk: rs7305032 (OR 0.81; 95%CI 0.65-1.02) and rs7965281 (OR, 0.78; 95%CI, 0.62-0.99). We recognize the potential false positive findings because of multiple comparisons; however, the eight significant SNPs in our study outnumbered the two significant tests expected to occur by chance. The VDR may play a role in melanomagenesis. Copyright © 2011 UICC.
Keywords: melanoma; vitamin d; polymorphism; snp; vdr
Journal Title: International Journal of Cancer
Volume: 130
Issue: 2
ISSN: 0020-7136
Publisher: John Wiley & Sons  
Date Published: 2012-01-15
Start Page: 405
End Page: 418
Language: English
DOI: 10.1002/ijc.26023
PROVIDER: scopus
PMCID: PMC3135781
PUBMED: 21365644
DOI/URL:
Notes: --- - "Export Date: 1 February 2012" - "CODEN: IJCNA" - "Source: Scopus"
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MSK Authors
  1. Anne S Reiner
    248 Reiner
  2. Colin B Begg
    306 Begg
  3. Irene Orlow
    247 Orlow
  4. Klaus J Busam
    688 Busam
  5. Pampa Roy
    36 Roy
  6. Himali S Patel
    8 Patel
  7. Sarah Min Kyung Yoo
    18 Yoo