|
With the completion of the Human Genome Project, the relationship between individual genetic variations and disease are increasingly important, single nucleotide polymorphism (SNP) is the most common type of genetic variation is also an important basis for the individual clinical phenotype diversity , at the same time to carry out complex disease SNP research will help improve the level of prevention and treatment of these diseases clinical significance. Vitiligo is a skin disease characterized by the sheet depigmentation spots on a clinical, more common, not associated with the system in the majority of patients with vitiligo disease, but the presence of lesions seriously affect the beauty, the wishes of the patient care is urgent. That vitiligo is a complex disease morbidity and multiple genes and influenced by environmental factors, and histopathological evidence suggests that vitiligo lesions at local melanocytes missing or reduce, so we believe that vitiligo the incidence of melanocyte function and patients. Melanocyte stimulating hormone receptor 1 gene (melanocortin-1 receptor, MC1R) is a the melanocyte specific cell surface receptor, the gene was confirmed differences in human pigment and the occurrence of melanoma and other diseases, and black melanocytes disease gene, we speculated that the MC1R polymorphism may be related to the pathogenesis of vitiligo. To confirm more than speculate, we first summarize the clinical features of the area of ??365 cases of skin lesions of patients with vitiligo vulgaris, diseased parts, family history, underlying diseases, identify its clinical features and possible pathogenesis factors. 13.15% of patients have a family history of prompt vulgaris vitiligo may be related and genetic. Continue on 40 cases of patients with vitiligo vulgaris (the vitiligo group) and 38 outpatients examination healthy subjects (control group), MC1R outer exon direct sequencing and SNP detection results (NCBI latest Asian MC1R literature group ) carried out a comparative analysis. The main findings are as follows: 1. Vitiligo clinical analysis of 365 cases of vitiligo vulgaris male in 193 cases (52.88%), 172 cases of women (47.12%), family history in 48 cases (13.15%), first-degree relatives gt; degree relatives gt; three relatives; skin lesions occur in the order of the parts of the face gt; thoracoabdominal gt; hand, foot and gt; cavity mouth gt; back gt; waist gt; limbs gt; scalp gt; neck gt; arm. The most common lesion area, accounting for 1% to 5% of the body surface area (44.11%), the proportion of male patients visit a large area of ??skin lesions than women (χ ~ 2 = 16.399,0.01 lt; P lt; 0.05 ). Predisposing factor in 82 cases, accounting for 22.47 percent the mental stress accounted for 10.68% of the total, 6.30% of mental depression. Vitiligo and MC1R analysis results vitiligo group and the control group MC1R gene were found five SNP loci G274A (Val92Met) the T359C (His120His), G488A (Gln163Arg,), C491A (Ala164Gln) the, A942G (Thr312Thr,), which more The state higher two sites G274A (Val92Met) and the G488A (Gln163Arg); the vitiligo group Val92Met sites and loci frequency Gln163Arg respectively 26.25% and 81.25%, while the control group was 22.37% and 57.89%, significant differences between of χ ~~ 2 test prompted vitiligo group and the control group Gln163Arg (χ to 2 = 9.966, P lt; 0.01); the vitiligo group literature group between Gln163Arg polymorphism also significant difference (χ ~ 2 = 6.214,0.01 lt; P lt; 0.05); There were no significant differences between the control group and the literature group. The Val92Met polymorphism among the three groups was no significant difference. The new discovery of a mutation sites the C491A (Ala164Gln). Conclusion: The treatment of male patients with vitiligo vulgaris lesions area are generally higher than the area of ??the female is larger, emotional, mental changes may affect vitiligo vulgaris vitiligo may be genetic correlation. The MC1R gene Gln163Arg variation may be related to vitiligo Val92Met with vitiligo was no significant correlation.
|