ISSN : 2146-3123
E-ISSN : 2146-3131

Polymorphisms in the Melanocortin-1 Receptor (Mc1R) Gene in Vitiligo
Eylem Acar 1, Gökay Bozkurt 1, Adnan Görgülü 2
1Department of Medical Genetics, Faculty of Medicine, Adnan Menderes University, Aydın, Turkey
2Department of Skin and Venereal Diseases, Faculty of Medicine, Trakya University, Edirne, Turkey
DOI : 10.5152/balkanmedj.2011.007
Pages : 26-31

Abstract

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 (p>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 (p<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.

Keywords : Vitiligo, MC1R, melanocortin-1 receptor gene, polymorphism
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