title: MC1R gene variants and sporadic malignant melanoma susceptibility in the Canary Islands population.
abstract: Several MC1R variants are associated with increased risk of malignant melanoma (MM) in a variety of populations. We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. Overall, 1,046 Caucasian individuals were included in the study. A thousand of them were genotyped for MC1R variants: 509 were sporadic MM patients and 491 were healthy control subjects from general population. The analysis was adjusted for age, sex, hair colour, eye colour, skin phototype and ancestry. We found that carriers of the R151C and R163Q variants were at an increased risk for melanoma OR 2.76 (1.59-4.78) and OR 5.62 (2.54-12.42), respectively. The risk of carrying RHC variants was 3.04 (1.90-4.86). Current study confirms the increased MM risk for R151C carriers. It also supports the association between R163Q variant and MM risk in the population on the Canary Islands, as opposed to reported on northern populations. These results highlight the importance of the sample population selection in this kind of studies.
authors.affiliation: Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Ctra. del Rosario 145, 38010, Santa Cruz de Tenerife, Spain.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Córdoba-Lanús
authors.forename: José G
authors.initials: JG
authors.lastname: Hernández-Jiménez
authors.forename: Chaxiraxi
authors.initials: C
authors.lastname: Medina-Coello
authors.forename: Adriana
authors.initials: A
authors.lastname: Espinoza-Jiménez
authors.forename: Ana
authors.initials: A
authors.lastname: González
authors.forename: María-Del-Cristo
authors.initials: MD
authors.lastname: Rodríguez-Pérez
authors.forename: Gregorio
authors.initials: G
authors.lastname: Carretero-Hernández
authors.forename: Pablo
authors.initials: P
authors.lastname: Almeida
authors.forename: José
authors.initials: J
authors.lastname: Suárez-Hernández
authors.forename: Antonio
authors.initials: A
authors.lastname: Perera-Molinero
authors.forename: Ricardo
authors.initials: R
authors.lastname: Fernández-de-Misa
mesh_terms: D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008545:Melanoma / Q000453:epidemiology* / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012306:Risk; D012878:Skin Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics; D013030:Spain / Q000453:epidemiology
chemical_list: D044102:Receptor, Melanocortin, Type 1