title: Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
abstract: Individuals with melanocortin 1 receptor (MC1R) gene variants have been shown to carry an increased risk for the development of melanoma. In this study, we investigated the relationship of MC1R gene variants and the risk of melanoma in 123 melanoma patients and 155 control subjects from Greece. The entire MC1R gene was sequenced for polymorphisms and the results were correlated with host factors and pigmentary characteristics. MC1R polymorphisms were present in 59.4% of melanoma patients compared to 37.5% of controls, yielding an odds ratio (OR) of 2.43 (95% confidence interval (CI) = 1.50-3.96, P < 0.001) for melanoma among MC1R carriers. The risk of melanoma was enhanced in individuals carrying multiple variant alleles (OR = 6.97; 95% CI = 1.86-26.12, P = 0.004). Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk. In stratified analysis, the risk of melanoma among MC1R carriers was not influenced by skin phototype, skin color, or hair color. No association was found between MC1R genotype and the age of onset of melanoma, the tumor location, or the tumor thickness. In conclusion, MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease.
authors.affiliation: Department of Dermatology, University of Athens Medical School, Andreas Sygros Hospital, Athens, Greece. alstrat@hol.gr
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Stratigos
authors.forename: Gerasimos
authors.initials: G
authors.lastname: Dimisianos
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Nikolaou
authors.forename: Mirto
authors.initials: M
authors.lastname: Poulou
authors.forename: Vana
authors.initials: V
authors.lastname: Sypsa
authors.forename: Irene
authors.initials: I
authors.lastname: Stefanaki
authors.forename: Othon
authors.initials: O
authors.lastname: Papadopoulos
authors.forename: Dorothea
authors.initials: D
authors.lastname: Polydorou
authors.forename: Michaela
authors.initials: M
authors.lastname: Plaka
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Christofidou
authors.forename: Helen
authors.initials: H
authors.lastname: Gogas
authors.forename: Dimosthenis
authors.initials: D
authors.lastname: Tsoutsos
authors.forename: Ourania
authors.initials: O
authors.lastname: Kastana
authors.forename: Christina
authors.initials: C
authors.lastname: Antoniou
authors.forename: Angelos
authors.initials: A
authors.lastname: Hatzakis
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Andreas D
authors.initials: AD
authors.lastname: Katsambas
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006115:Greece / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D008545:Melanoma / Q000208:ethnology* / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000208:ethnology* / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics
chemical_list: D044102:Receptor, Melanocortin, Type 1