Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients

PURPOSE. Allelic variations of the melanocortin-1 receptor (MC1R) gene have been linked to red hair and sun-sensitive skin types and may play a role i n the susceptibility to develop cutaneous malignant melanoma (CMM). To defi ne the role of MC1R gene in uveal melanoma, a case control study was perfor med, in which the presence of MC1R gene variations in uveal melanoma patien ts was compared with that of healthy controls. METHODS. MC1R gene Variants were analyzed in 162 uveal melanoma patients an d 255 healthy controls. After genomic DNA was isolated from venous blood, t he MC1R gene was amplified by polymerase chain reaction (PCR) and examined for the presence of variants by single-strand conformation polymorphism (SS CP) analysis. Participants were asked to complete a questionnaire regarding skin type, eye color, and hair color. RESULTS. No disparity was found between the distribution of the MC1R gene v ariants in both groups. Furthermore, no associations between MC1R genotype and pigment phenotype were found. In contrast to CMM, uveal melanoma patien ts did not show specific MC1R gene variants. Compared with controls, most u veal melanoma patients had blue eyes (65%, P = 0.060) and skin type III (56 %); however, in the uveal melanoma group the presence of dark blond hair wa s significantly elevated (46%, P = 0.030). These findings are in contrast w ith studies on CMM, where most patients have skin type II and red/fair hair . CONCLUSIONS. These data suggest that MC1R variants do not play a role in th e susceptibility to develop uveal melanoma. Furthermore, most uveal melanom a patients share phenotypic characteristics that differ from findings in CM M patients.