title: Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin.
abstract: The objective of this study was to assess the association between melanocortin-1 receptor (MC1R) variants and the severity of facial skin photoaging. The study population comprised 530 middle-aged French women. A trained dermatologist graded the severity of facial skin photoaging from photographs using a global scale. Logistic regressions were performed to assess the influence of MC1R polymorphisms on severe photoaging with adjustment for possible confounders (demographic and phenotypic data and sun exposure intensity). Among the fifteen MC1R variants identified, the nine most common were V60L, V92M, R151C, R160W, R163Q, R142H, D294H, D84E, and I155T. One hundred and eighty-five individuals (35%) were WT homozygotes, 261 (49%) had one common variant, 78 (15%) had two common variants, and six (1%) had at least one rare variant. After adjustment for possible confounders, the presence of two common variants was already a risk factor for severe photoaging (AOR (95% confidence interval): 2.33 (1.17-4.63)). This risk reached 5.61 (1.43-21.96) when two major diminished-function variants were present. Surprisingly, the minor variant, V92M, was associated with increased risk of photoaging (2.57 (1.23-5.35)). Our results suggest that genetic variations of MC1R are important determinants for severe photoaging.
authors.affiliation: Biometrics and Epidemiology Unit, CERIES, Neuilly-sur-Seine, France.
authors.forename: Anissa
authors.initials: A
authors.lastname: Elfakir
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.forename: Julie
authors.initials: J
authors.lastname: Latreille
authors.forename: Laurence
authors.initials: L
authors.lastname: Ambroisine
authors.forename: Randa
authors.initials: R
authors.lastname: Jdid
authors.forename: Pilar
authors.initials: P
authors.lastname: Galan
authors.forename: Serge
authors.initials: S
authors.lastname: Hercberg
authors.forename: Florian
authors.initials: F
authors.lastname: Gruber
authors.forename: Denis
authors.initials: D
authors.lastname: Malvy
authors.forename: Erwin
authors.initials: E
authors.lastname: Tschachler
authors.forename: Christiane
authors.initials: C
authors.lastname: Guinot
mesh_terms: D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005145:Face; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D012720:Severity of Illness Index; D015595:Skin Aging / Q000235:genetics* / Q000473:pathology*
chemical_list: D044102:Receptor, Melanocortin, Type 1