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

Background: 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.

Methods: The main phenotypic features (skin color, hair color, eye color, and freckling) of 5116 healthy individuals are described.

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset.

Background: Alpha-melanocyte-stimulating hormone receptor 1 (MC1R) has an important role in skin pigmentation and variants of the gene have been established as independent risk factors for susceptibility to cutaneous malignant melanoma.

Objective: To explore whether variants of the gene also influence the onset of the disease.

Methods: We analyzed 285 melanoma patients of European ancestry for common variation in codon 84 (D84E) of the alpha-MSH receptor 1 gene, which is known to have functional consequences in MC1R protein activity.