The Arg160Trp allele of melanocortin-1 receptor gene might protect against vitiligo

M. Széll, Eszter Baltás, L. Bodai, Z. Bata-Csörgő, N. Nagy, Attila Dallos, Reza Pourfarzi, Eniko Simics, Ildikó Kondorosi, Z. Szalai, G. Tóth, J. Hunyadi, A. Dobozy, L. Kemény

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)565-571
Number of pages7
JournalPhotochemistry and Photobiology
Volume84
Issue number3
DOIs
Publication statusPublished - May 2008

Fingerprint

Receptor, Melanocortin, Type 1
Vitiligo
Agouti Signaling Protein
polymorphism
Polymorphism
genes
nucleotides
Genes
Alleles
Single Nucleotide Polymorphism
Nucleotides
Gene Frequency
proteins
Hair Color
Eye Color
Skin
Skin Pigmentation
Color
color
Pigmentation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Biochemistry
  • Biophysics

Cite this

The Arg160Trp allele of melanocortin-1 receptor gene might protect against vitiligo. / Széll, M.; Baltás, Eszter; Bodai, L.; Bata-Csörgő, Z.; Nagy, N.; Dallos, Attila; Pourfarzi, Reza; Simics, Eniko; Kondorosi, Ildikó; Szalai, Z.; Tóth, G.; Hunyadi, J.; Dobozy, A.; Kemény, L.

In: Photochemistry and Photobiology, Vol. 84, No. 3, 05.2008, p. 565-571.

Research output: Contribution to journalArticle

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AU - Baltás, Eszter

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AU - Bata-Csörgő, Z.

AU - Nagy, N.

AU - Dallos, Attila

AU - Pourfarzi, Reza

AU - Simics, Eniko

AU - Kondorosi, Ildikó

AU - Szalai, Z.

AU - Tóth, G.

AU - Hunyadi, J.

AU - Dobozy, A.

AU - Kemény, L.

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AB - 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.

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