title: MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women.
abstract: The melanocortin-1 receptor (MC1R) gene is known to play a major role in skin and hair pigmentation and to be highly polymorphic in Caucasians. This study was performed to investigate the relationships between MC1R gene polymorphisms and skin color in a large sample of French middle-aged Caucasian women. The codons 60 to 265 and the codon 294 of the MC1R gene were sequenced in 488 women. The skin color was measured on the inner side of the forearm using a spectrophotometric instrument. Fifteen variants were identified: Arg151Cys, Arg160Trp, Arg142His, Asp294His, Ile155Thr, Asp84Glu, Val60Leu, Val92Met, Arg163Gln, Ser83Pro, Thr95Met, Pro256Ser, Val265Ile, Ala166Ala and Gln233Gln. Women carrying Arg151Cys, Asp294His, Arg160Trp and Asp84Glu variants had a significantly higher reflectance in the red region, which indicates a lower level of functional melanin. This association was the most pronounced for women carrying Asp84Glu. In contrast, no significant difference was observed for other variants. Moreover, associations between MC1R polymorphisms and the risks of experiencing sunburn and of having freckles were found independently of skin color. Our findings support the hypothesis that MC1R polymorphisms do not necessarily alter the skin color but should sensitize the skin to UV-induced DNA damage.
authors: CE.R.I.E.S. (Research Centre on Human Skin founded by CHANEL), Neuilly sur Seine, France.
authors: Julie
authors: J
authors: Latreille
authors: Khaled
authors: K
authors: Ezzedine
authors: Anissa
authors: A
authors: Elfakir
authors: Laurence
authors: L
authors: Ambroisine
authors: Sophie
authors: S
authors: Gardinier
authors: Pilar
authors: P
authors: Galan
authors: Serge
authors: S
authors: Hercberg
authors: Florian
authors: F
authors: Gruber
authors: Jonathan
authors: J
authors: Rees
authors: Erwin
authors: E
authors: Tschachler
authors: Christiane
authors: C
authors: Guinot
mesh_terms: D000328:Adult; D005260:Female; D005602:France; D006200:Hair Color; D006801:Humans; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*; D013057:Spectrum Analysis; D013472:Sunlight; D044465:White People / Q000235:genetics
chemical_list: D044102:Receptor, Melanocortin, Type 1