Polymorphisms in the Melanocortin-1 Receptor (Mc1R) Gene in Vitiligo

Objective: Vitiligo is a progressive skin pigmentation disorder, which may be acquired or hereditary, frequently seen, and may influence every age group. The melanocortin 1 receptor (MC1R) gene is a major determinant of human pigmentation. In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in patients with vitiligo. Materials and Methods: In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in vitiligo 60 patients, whose families had resided in the Thrace region of Turkey for at least three generations. The 60 volunteer healthy individuals have no other systemic and dermatological disease. Results: Totally, five types of Single Nucleotide Polymorphism (SNP) were found in each case and control groups: Val60Leu (G178T), Val92Met (G274A), Arg151Cys (C451T), Arg160Trp (C478T), and Arg163Gln (G488A). Comparing both groups in terms of genotype frequencies, no statistically meaningful difference was detected (pagt;0.05). However, assessing in terms of allele frequencies, a meaningful difference was found in the Arg163Gln (G488A) allele statistically in favor of the control group (palt;0.05). Conclusion: It has been found in our study population that the MC1R gene Arg163Gln (G488A) allele may be a protective factor for vitiligo. Turkish Baslik: Vitiligoda Melanokortin-1 Reseptor Geni Polimorfizmleri Anahtar Kelimeler: Vitiligo, Melanokortin-1 Reseptor Geni, Polimorfizm Amac: Vitiligo; her yas grubunda, herediter veya kazanilmis olarak ve siklikla gorulen, ilerleyici, bir deri pigmentasyon bozuklugudur. Melanokortin 1 reseptor (MC1R) geni insan pigmentasyonunda major bir belirleyicidir. Bizim calismamizda; vitiligolu olgularda MC1R genindeki polimorfik farkliliklar DNA seviyesinde arastirilmaktadir. Hastalar ve Yontemler: Bizim calismamizda; MC1R genindeki polimorfik farkliliklar en az uc kusaktir Turkiyea#39;nin Trakya bolgesinde yasayan, baska bir diger sistemik veya dermatolojik bir hastaligi olmayan, 60 vitiligolu olguda ve 60 gonullu saglikli bireyde DNA seviyesinde arastirilmistir. Bulgular: Kontrol ve olgu gruplarinin her birisinde toplam 5 adet SNP bulunmustur. Val60Leu (G178T), Val92Met (G274A), Arg151Cys (C451T), Arg160Trp (C478T) and Arg163Gln (G488A). Genotip sikliklari yoluyla her iki grup karsilastirildiginda istatistiki olarak anlamli bir fark bulunmadi (pagt;0.05). Ancak allel sikliklari yoluyla degerlendirildiginde kontrol grubunun lehine Arg163Gln (G488A) allelinde istatistiki olarak anlamli bir fark bulundu(palt;0.05). Sonuc: Bundan dolayi, bizim calismamiza gore MC1R geni Arg163Gln (G488A) alleli vitiligo icin koruyucu bir faktor olabilir.