IRF4 rs12203592 functional variant and melanoma survival

Abstract

Inherited genetic factors may modulate clinical outcome in melanoma. Some low to medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona N=493 and Essen N=438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: Odds Ratio [OR]=6.53, 95%CI 1.38 to 30.87, Adj P=0.032; Essen: OR=1.68, 95%CI 1.04 to 2.72, Adj P=0.035). Survival analyses only showed significance for the Barcelona set (Hazard ratio=4.58, 95% CI 1.11 to 18.92, Adj. P=0.036). This SNP was also associated with tumor localization, increasing the risk of developing melanoma in Head or Neck (OR=1.79, 95%CI 1.07 to 2.98, Adj P=0.032) and protecting from developing melanoma in the trunk (OR=0.59, 95%CI 0.41 to 0.85, Adj P=0.004). These findings suggest for the first time that IRF4 rs12203592 plays a role in the modulation of melanoma outcome and confirms its contribution to the localization of the primary tumor. This article is protected by copyright. All rights reserved.

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