TLR7 Gln11Leu single nucleotide polymorphism and susceptibility to cutaneous melanoma

Lisa Elefanti, Giorgia Sacco, Camilla Stagni, Marco Rastrelli, Chiara Menin, Irene Russo, Mauro Alaibac

Research output: Contribution to journalArticlepeer-review


Cutaneous melanoma is a life-threatening skin cancer. Its incidence is rapidly increasing, and early diagnosis is the main factor able to improve its poor prognosis. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen- and damage-associated molecular patterns, against which TLRs activate the innate immune response and initiate the adaptive immune response. Genetic variations of these receptors may alter the immune system, and are involved in evolution and susceptibility to various diseases, including cancer. The aim of the present study was to evaluate whether the presence of TLR7 glutamine (Gln) 11 leucine (Leu) polymorphism confers an increased susceptibility to cutaneous melanoma. For that purpose, a case-control study was performed with 182 melanoma cases and 89 controls. To highlight the possible association between the aforementioned polymorphism and the susceptibility to melanoma, 93 cases of single melanoma and 89 cases of multiple primary melanoma (MPM) were compared in the present study. Since the TLR7 gene is localized on the chromosome X, the allelic frequency of the Gln11Leu polymorphism was analyzed separately in males and females. The distribution of allele frequencies between melanoma cases and controls (P=0.245) and between single melanoma and MPM cases (P=0.482) was not significant. Therefore, the present results do not suggest an association between TLR7 Gln11Leu polymorphism and susceptibility to cutaneous melanoma. Further studies are required to analyze the influence of other TLR polymorphisms on the susceptibility to malignant melanoma and the involvement of innate immunity in this malignancy.

Original languageEnglish
Pages (from-to)275-280
Number of pages6
JournalOncology Letters
Issue number1
Publication statusPublished - Jul 1 2016


  • Cutaneous melanoma
  • Innate immunity
  • TLR7

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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