Main pigmentary features andmelanocortin 1 receptor(MC1R) gene polymorphisms in the population of the Canary Islands

Abstract

Sun exposure, light skin pigmentation, and melanocortin 1 receptor (MC1R) gene variants are independent risk factors for skin cancer. The Canary Islands have a sunny and temperate climate, but data regarding the phenotypic and genotypic risk factors among the population are lacking. The main phenotypic features (skin color, hair color, eye color, and freckling) of 5116 healthy individuals are described. The genotypic findings of six MC1R gene variants (V60L, D84E, R150C, R160W, R163Q, and T314T) in 116 healthy individuals from a population-based cohort with at least three generations of Canary Islands' ancestry are evaluated. The variants were analyzed by SNaPshot. Fifty per cent of the population showed at least one phenotypic risk factor (fair skin, 34.3%; freckling, 17.4%; green or blue eyes, 16.8%; red or blonde hair, 7.8%), although brown skin (65.7%), dark eyes (83.2%), and dark hair (92.2%) prevailed. Forty-three per cent of the individuals showed at least one of the MC1R variants studied. Allelic frequencies for V60L, D84E, R150C, R160W, R163Q, and T314T were 9.1%, 1.7%, 3.0%, 0.8%, 3.0%, and 8.2%, respectively. A significant proportion of the population showed risk factors for skin cancer. The inhabitants of the Canary Islands are phenotypically and genotypically close to Mediterranean populations.