2026-04-13T06:42:38Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1058682025-12-05T00:37:01Zcom_2072_1057col_2072_478917col_2072_478921

00925njm 22002777a 4500 dc Tagliabue, Elda author Fargnoli, Maria Concetta author Gandini, S. author Maisonneuve, P. author Liu, F. author Kayser, M. author Nijsten, T. author Han, Jiali author Kumar, Rajiv author Gruis, Nelleke A. author Ferrucci, L. author Branicki, W. author Dwyer, T. author Blizzard, L. author Helsing, P. author Autier, P. author García-Borrón, J.C. author Kanetsky, Peter A. author Landi, Maria Teresa author Little, J. author Newton-Bishop, Julia A. author Sera, F. author Raimondi, Susana author Puig i Sardà, Susana author M-SKIP Study Group author 2017-01-19T18:28:59Z 2017-01-19T18:28:59Z 2015-07-14 2017-01-19T18:28:59Z BACKGROUND: The melanocortin-1-receptor (MC1R) gene regulates human pigmentation and is highly polymorphic in populations of European origins. The aims of this study were to evaluate the association between MC1R variants and the risk of non-melanoma skin cancer (NMSC), and to investigate whether risk estimates differed by phenotypic characteristics. METHODS: Data on 3527 NMSC cases and 9391 controls were gathered through the M-SKIP Project, an international pooled-analysis on MC1R, skin cancer and phenotypic characteristics. We calculated summary odds ratios (SOR) with random-effect models, and performed stratified analyses. RESULTS: Subjects carrying at least one MC1R variant had an increased risk of NMSC overall, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC): SOR (95%CI) were 1.48 (1.24-1.76), 1.39 (1.15-1.69) and 1.61 (1.35-1.91), respectively. All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19-1.70) for V60L to 2.66 (1.06-6.65) for D84E variant. In stratified analysis, there was no consistent pattern of association between MC1R and NMSC by skin type, but we consistently observed higher SORs for subjects without red hair. CONCLUSIONS: Our pooled-analysis highlighted a role of MC1R variants in NMSC development and suggested an effect modification by red hair colour phenotype. Genètica mèdica Càncer de pell Avaluació del risc per la salut Genètica de poblacions humanes Medical genetics Skin cancer Health risk assessment Human population genetics MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project