title: 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 1.38-30.87, Adj p = 0.032; Essen: OR = 1.68, 95% CI 1.04-2.72, Adj p = 0.035). Survival analyses only showed significance for the Barcelona set (hazard ratio = 4.58, 95% CI 1.11-18.92, Adj p = 0.036). This SNP was also associated with tumour localization, increasing the risk of developing melanoma in head or neck (OR = 1.79, 95% CI 1.07-2.98, Adj p = 0.032) and protecting from developing melanoma in the trunk (OR = 0.59, 95% CI 0.41-0.85, 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 tumour.
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Miriam
authors.initials: M
authors.lastname: Potrony
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Aida
authors.initials: A
authors.lastname: Rebollo-Morell
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Pol
authors.initials: P
authors.lastname: Giménez-Xavier
authors.affiliation: Department of Dermatology, University Hospital Essen, Essen, Germany & German Cancer Consortium, Heidelberg, Germany.
authors.forename: Lisa
authors.initials: L
authors.lastname: Zimmer
authors.affiliation: Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: Joan Anton
authors.initials: JA
authors.lastname: Puig-Butille
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Gemma
authors.initials: G
authors.lastname: Tell-Marti
authors.affiliation: Department of Dermatology, University Hospital Essen, Essen, Germany & German Cancer Consortium, Heidelberg, Germany.
authors.forename: Antje
authors.initials: A
authors.lastname: Sucker
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.|Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Carrera
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Malvehy
authors.affiliation: Department of Dermatology, University Hospital Essen, Essen, Germany & German Cancer Consortium, Heidelberg, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Schadendorf
authors.affiliation: Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.|Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D053208:Kaplan-Meier Estimate; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000099218:Interferon Regulatory Factor-4
chemical_list: D050835:Interferon Regulatory Factors; D000099218:Interferon Regulatory Factor-4
keywords: IRF4; genetics; melanoma; prognosis; survival