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目的为评估hOGG1基因自然变异和基因-环境的交互作用,对中国5个民族人群的953个健康个体的hOGG1基因326位多态性分布进行了调查。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析hOGG1基因326位密码子多态性,用高效液相色谱-电化学检测(HPLC-ECD)方法分析尿中8-羟基-脱氧鸟嘌呤(8-OHdG)水平,生活方式相关因素(吸烟、饮酒、肉类和水果摄入)资料通过问卷调查获得。结果中国人群中hOGG1基因的等位基因频率分别为0.16(Ser/Ser),0.49(Ser/Cys)和0.35(Cys/Cys)。5个民族人群中Ser326Cys多态性频率具有显著性差异(P=0.002)。除Ser326Cys与吸烟有关联外(P=0.027),hOGG1基因多态性与其他的生活方式因素没有关系。Cys326Cys等位基因健康受试者尿中8-OHdG水平显著升高(P=0.033)。结论各民族人群hOGG1基因存在自然变异。吸烟与Cys/Cys多态性频率有关,hOGG1 Cys326Cys基因型个体DNA氧化性损伤的修复水平较低。
Objective To investigate the natural variation of hOGG1 gene and the interaction between gene and environment, the polymorphism distribution of 326 loci in hOGG1 gene in 953 healthy individuals in 5 Chinese ethnic groups was investigated. Methods The codon 326 polymorphism of hOGG1 gene was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The urine samples were analyzed by high performance liquid chromatography-electrochemical detection (HPLC-ECD) - Hydroxy-deoxyguanosine (8-OHdG) levels, lifestyle-related factors (smoking, drinking, meat and fruit intake) were obtained through questionnaire. Results The allele frequencies of hOGG1 gene in Chinese population were 0.16 (Ser / Ser), 0.49 (Ser / Cys) and 0.35 (Cys / Cys), respectively. The frequency of Ser326Cys polymorphism in five ethnic groups was significantly different (P = 0.002). Except Ser326Cys associated with smoking (P = 0.027), the hOGG1 gene polymorphism was not associated with other lifestyle factors. Urine levels of 8-OHdG were significantly elevated in subjects with healthy Cys326Cys alleles (P = 0.033). Conclusion There is a natural variation in hOGG1 gene among different ethnic groups. Smoking and Cys / Cys polymorphism frequency, hOGG1 Cys326Cys genotype individual DNA oxidative damage repair level is low.