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Association between rs11593576 Polymorphism within ZMIZ1 and Phenotype of Vitiligo in Chinese Han Population

Author: ZhangHaoQin
Tutor: ZhangXueJun；YangSen
School: Anhui Medical University,
Course: Dermatology and Venereology
Keywords: Vitiligo Single nucleotide polymorphisms Genotype Phenotypic
CLC: R758.41
Type: Master's thesis
Year: 2011
Downloads: 19
Quote: 0
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Abstract


Background: Vitiligo (vitiligo) is a common depigmentation skin disease involving the skin and hair follicles can occur in any part of the body, both men and women to the onset of the worldwide incidence of approximately 1 %. The incidence of each region there are significant differences in the incidence of the Han Chinese people is about 0.19%. To date, the pathogenesis of vitiligo is not yet clear, common theory of the pathogenesis of autoimmune theory, genetics, neural theory of the origin of melanocytes destruction doctrine. However, each doctrine can only explain a small part of the disease. The clinical and epidemiological investigations revealed that vitiligo may be a polygenic disease. Linkage and association findings vitiligo multiple genetic risk factor, but only a few sites, such as NLRP1 (encoding NLR family, also known as NALP1) and HLA alleles in a number of studies to be repeated. Recently, our team in the Chinese Han vitiligo susceptibility genes genome-wide association analysis of vitiligo associated ZMIZ1 (SNP rs11593576) and Han people. Objective: To study ZMIZ1 (SNP rs11593576) and Han vitiligo lay the foundation for the relationship between some of the clinical phenotype, as elaborated in the pathogenesis of vitiligo. Method: unified design vitiligo genetic epidemiological questionnaire and normal control questionnaire by epidemiological investigators specially trained in survey form, collected 6585 cases of vitiligo cases to control the 8178 cases. All study subjects ZMIZ1 region SNP rs11593576 genotyping data were derived from the research team used Illumina 610 chip genotyping data analysis of genome-wide association Han vitiligo. Establish a database using Epi Info 6.0 software SPSS13.0 software for statistical analysis. Results: 1.rs11593576 allele and genotype frequencies between the case and control groups were significant differences (P = 3.93 × 10 -8 and 4.81 × 10 -7 ). The cases were grouped according to the clinical phenotype compared with the control group, the frequency of allele and genotype distribution in the difference between the phenotype group and the control group still statistically significant (allele frequency in the Pan-hair and a control group , the acral and the control group between no significant difference in genotype frequencies between the pan-hair with the control group meaningless). SNP rs11593576 allele and genotype frequencies between the cases of various clinical phenotype had no significance (P gt; 0.05). Conclusion: SNP rs11593576 Han vitiligo (other than pan-hair) susceptibility, but with a family history of vitiligo patients, age of onset, unaccompanied hair disease, lesion type may no significant correlation.

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CLC: > Medicine, health > Dermatology and Venereology > Dermatology > Metabolic disorders of the skin > Vitiligo ( vitiligo )
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