title: The Arg160Trp allele of melanocortin-1 receptor gene might protect against vitiligo.
abstract: Melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) play pivotal roles in the regulation of human pigmentation. We aimed to study whether single nucleotide polymorphisms (SNPs) of the MC1R and ASIP genes contribute to the pathogenesis of the polygenic pigment skin disorder, vitiligo. The PCR-amplified, full-length MC1R gene was studied with sequence analysis, and the 3' untranslated region (3' UTR) SNP of ASIP was detected using restriction fragment length polymorphism. The allele frequency of the ASIP SNP did not show any difference between the skin type, hair color and eye color-matched 97 vitiligo patients and the 59 healthy control individuals. As one of the MC1R polymorphisms showed significantly higher incidence among fair-skinned individuals (Fitzpatrick I+II, n=140) than among dark-skinned individuals (Fitzpatrick III+IV, n=90), both vitiligo patients and controls were divided into two groups and the frequency of the MC1R alleles was studied separately in fair-skinned and dark-skinned subgroups of diseased and healthy groups. C478T, one of the MC1R SNPs studied in 108 fair-skinned vitiligo patients and in 70 fair-skinned healthy control individuals, showed a significant difference (P=0.0262, odds ratio [95% confidence interval]=3.6 [0.0046-0.1003]) in allele frequency between the two groups: the allele frequency was higher in the control group, suggesting protection against vitiligo. Computer prediction of antigenicity has revealed that the Arg160Trp amino acid change caused by this SNP results in a decrease in antigenicity of the affected peptide epitope.
authors.affiliation: Dermatological Research Group of the Hungarian Academy of Sciences and the University of Szeged, Szeged, Hungary. szell@mail.derma.szote.u-szeged.hu
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
authors.forename: Eszter
authors.initials: E
authors.lastname: Baltás
authors.forename: László
authors.initials: L
authors.lastname: Bodai
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bata-Csörgo
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.forename: Attila
authors.initials: A
authors.lastname: Dallos
authors.forename: Reza
authors.initials: R
authors.lastname: Pourfarzi
authors.forename: Eniko
authors.initials: E
authors.lastname: Simics
authors.forename: Ildikó
authors.initials: I
authors.lastname: Kondorosi
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Szalai
authors.forename: Gábor K
authors.initials: GK
authors.lastname: Tóth
authors.forename: János
authors.initials: J
authors.lastname: Hunyadi
authors.forename: Attila
authors.initials: A
authors.lastname: Dobozy
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemény
mesh_terms: D000328:Adult; D054366:Agouti Signaling Protein; D000483:Alleles; D000595:Amino Acid Sequence; D005260:Female; D006801:Humans; D006814:Hungary; D007113:Immunity, Innate / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D014820:Vitiligo / Q000235:genetics* / Q000517:prevention & control*
chemical_list: D054366:Agouti Signaling Protein; D044102:Receptor, Melanocortin, Type 1