摘要目的 探讨中国汉族人群8-羟鸟嘌呤DNA转葡糖基酶1(OGG1)基因功能性单核苷酸多态性(SNP) rs1052133(C/G)位点与白癜风的相关性.方法 白癜风患者800例和健康对照组800例,采用PCR及限制性片段长度多态性方法(PCR-RFLP)检测OGG1基因rs1052133位点多态性分布,x2检验和非条件Logistic回归分析评估该位点多态性与白癜风罹患危险的相关性.白癜风患者83例和健康对照组83例,采用8-羟基脱氧鸟苷(8-OHdG) ELISA检测试剂盒检测外周血血清中8-OHdG的水平,采用t检验分析两组之间的差异.结果 白癜风组rs1052133位点CC、CG和GG基因型频率分别为16.8％、54.0％、29.2％,健康对照组为21.4％、52.8％、25.8％,两组间差异有统计学意义(x2=6.26,P＜ 0.05).白癜风组rs1052133位点G等位基因携带者显著高于健康对照组(56.2％比52.2％,x2=5.16,P＜0.05).携带有rs1052133位点CG或GG基因型的个体罹患白癜风的危险性显著增加[CG基因型x2=3.98,P＜0.05,校正OR值=1.31(1.01～1.70)；CG基因型x2=6.01,P＜0.05,校正OR值=1.45 (1.08～1.94)],尤其是女性患者、非节段型、病情活动、病程较长、有家族史、无伴发自身免疫性疾病的患者.携带有rs1052133位点CG或GG基因型的白癜风患者外周血血清中8-OHdG的水平显著高于携带CC基因型的患者,8-OHdG水平分别为(838.23±294.11) μg/L和(593.84±190.14) μg/L,两组比较,t=3.63,P＜ 0.01.结论 OGG1基因功能性SNP rs1052133位点的多态性与白癜风的发病紧密相关,可能由其修复能力降低所致.

abstractsObjective 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.