Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Tagliabue, E; Gandini, S; Maisonneuve, P; Raimondi, S; Garcia-Borron, Jc; Newton-Bishop, J; Polsky, D; Lazovich, D; Kumar, R; Ghiorzo, P; Ferrucci, L; Gruis, Na; Puig, S; Kanetsky, Pa; Motokawa, T; Ribas, G; Landi, Mt; Fargnoli, Mc; Wong, Th; Stratigos, A; Helsing, P; Guida, G; Autier, P; Han, J; Little, J; Sera, F; Raimondi, S; Autier, P; Fargnoli, Mc; Garcia-Borron, Jc; Han, J; Kanetsky, Pa; Landi, Mt; Little, J; Newton-Bishop, J; Sera, S; Caini, S; Gandini, S; Maisonneuve, P; Hofman, A; Kayser, M; Liu, F; Nijsten, T; Uitterlinden, Ag; Kumar, R; Scherer, D; Bishop, T; Newton-Bishop, J; Elliott, F; Nagore, E; Lazovich, D; Polsky, D; Hansson, J; Hoiom, V; Ghiorzo, P; Pastorino, L; Gruis, Na; Bouwes Bavinck Jn,; Aguilera, P; Badenas, C; Carrera, C; Gimenez-Xavier, P; Malvehy, J; Potrony, M; Puig, S; Puig-Butille, J. A.; Tell-Marti, G; Dwyer, T; Blizzard, L; Cochrane, J; Fernandez-de-Misa, R; Branicki, W; Debniak, T; Morling, N; Johansen, P; Mayne, S; Bale, A; Cartmel, B; Ferrucci, L; Pfeiffer, R; Palmieri, G; Ribas, G; Menin, C; Stratigos, A; Kypreou, K; Bowcock, A; Cornelius, L; Council, Ml; Motokawa, T; Anno, S; Helsing, P; Andresen, Pa; Guida, G; Guida, S; Wong, Th

doi:10.1016/j.jid.2016.05.099

Skin pigmentation is due to the accu-mulation of eumelanin, which is brown-black pigment and photo- protective, and pheomelanin, which is yellow-red pigment and may promote carcinogenesis (Valverde et al., 1995). The melanocortin-1 receptor (MC1R) gene regulates the amount and type of pigment production and is a major determinant of skin prototype. Binding of a-melanocyte stimulating hormone to MC1R stimulates the enzymatic activity of adenylate cyclase enzyme, thereby elevating intracellular cyclic adenosine monophosphate (cAMP) levels. MC1R is highly polymorphic, especially in Caucasians: more than 200 coding region variants have been described to date

Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project / Tagliabue, E., Gandini, S., Maisonneuve, P., Raimondi, S., Garcia-Borron, J.c., Newton-Bishop, J., Polsky, D., Lazovich, D., Kumar, R., Ghiorzo, P., Ferrucci, L., Gruis, N.a., Puig, S., Kanetsky, P.a., Motokawa, T., Ribas, G., Landi, M.t., Fargnoli, M.c., Wong, T.h., Stratigos, A., et al.. - In: JOURNAL OF INVESTIGATIVE DERMATOLOGY. - ISSN 0022-202X. - 108:djv435(2016). [10.1016/j.jid.2016.05.099]