MC1R gene variants and sporadic malignant melanoma susceptibility in the Canary Islands population
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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.
KeywordsMelanoma MC1R gene Variants Caucasians
This research was supported by grants of the Fundación Canaria de Investigación y Salud (FUNCIS PI 47/05), Fondo de Investigación Sanitaria, Instituto de Salud Carlos III (FIS PI 08/0953, ISCIII) and Fundación Canaria del Instituto Canario de Investigación del Cáncer (FICIC, PI SE-10/13, ACIISI-FSE). The authors thank CEGEN for the Genotyping technology and Violeta Cazaña and Hilaria González for their excellent technical assistance.
Conflict of interest
The authors have no conflict of interest to declare.
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