Relationship between the functional single nucleotide polymorphism rs1052133 in the 8-oxoguanine DNA glycosylase 1 (OGG1) gene and vitiligo in a Chinese Han population
10.3760/cma.j.issn.0412-4030.2013.04.001
- VernacularTitle:8-羟鸟嘌呤DNA转葡糖基酶1基因多态性位点rs1052133与汉族人群白癜风的相关性研究
- Author:
Chao WEI
;
Huini QIANG
;
Tianwen GAO
;
Chunying LI
- Publication Type:Journal Article
- Keywords:
Vitiligo;
Polymorphism,single nucleotide;
OGG1 gene;
8-OHdG
- From:
Chinese Journal of Dermatology
2013;(4):227-230
- CountryChina
- Language:Chinese
-
Abstract:
Objective To estimate the relationship of the functional single nucleotide polymorphism (SNP) rs1052133 in the 8-oxoguanine DNA glycosylase 1 (OGG1) gene with vitiligo in a Chinese Han population.Methods Blood samples were collected from 800 patients with vitiligo and 800 healthy human controls,and subjected to genomic DNA extraction.PCR-restriction fragment length polymorphism (PCR-RFLP) analysis was performed to analyze the genotype of the SNP rs1052133 in the OGG1 gene.The relationship between the SNP and the risk of vitiligo was evaluated by chi-square test and unconditional logistic regression analysis.Enzyme linked immunosorbent assay (ELISA) was carried out to assess the serum level of 8-hydroxydeoxyguanosine (8-OHdG) in 83 patients with vitiligo and 83 healthy human controls,then,t test was used to compare the serum 8-OHdG level between the patients and controls.Results The frequency of CC,CG and GG genotype of the SNP rs1052133 was 16.8%,54.0% and 29.2% respectively in the patients,21.4%,52.8% and 25.8%respectively in the controls (x2 =6.26,P < 0.05).Increased frequency of G allele of the SNP rs1052133 was observed in the patients with vitiligo compared with the controls (56.2% vs.52.2%,x2 =5.16,P < 0.05).A statistically increased risk of vitiligo was associated with the CG (x2 =3.98,P < 0.05,adjusted odds ratio 1.31,95% confidence interval:1.01-1.70) and GG (x2 =6.01,P < 0.05,adjusted odds ratio 1.45,95% confidence interval:1.08-1.94) genotype of SNP rs1052133 compared with the CC genotype,which was more evident among the patients with the following characteristics:female,nonsegmental vitiligo,active vitiligo,long clinical course (> 12 months),a family history of vitiligo,and no accompanied autoimmune diseases.In addition,the patients with the CG or GG genotype of SNP rs1052133 had a higher serum 8-OHdG level than those with the CC genotype ((838.23 ± 294.11) μg/L vs.(593.84 ± 190.14) μg/L,t =3.63,P < 0.01).Conclusions The SNP rs1052133 in the OGG1 gene may be responsible for the development of vitiligo in Chinese Han populations,which is likely to be associated with defects in DNA repair.