鼻咽癌患者乙醛脱氢酶2基因G1510A突变及酶活性研究

Relationship of aldehyde dehydrogenase-2 G1510A gene polymorphism and aldehyde dehydrogenase activity with nasopharyngeal carcinoma

目的研究乙醛脱氢酶2(ALDH2)基因第12外显子G1510A遗传多态性及ALDH活性与鼻咽癌(NPC)的关系。方法研究对象包括70例NPC患者和86例健康对照者。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术结合琼脂糖凝胶电泳,研究受试者ALDH2基因G1510A多态性位点的基因型与等位基因分布;采用比色法测定研究对象血清ALDH总活性水平。结果病例组AA、GA和GG基因型频率分别为24.29%、30.00%和45.71%,A和G等位基因频率分别为39.29%和60.71%;对照组AA、GA和GG基因型频率分别为12.79%、25.58%和61.63%,A和G等位基因频率分别为25.58%和74.42%。病例组A等位基因频率高于对照组[相对危险度(OR)=1.88,95%可信区间(95%CI)=1.16～3.05,P<0.05],与GG基因型比较,AA和GA基因型NPC患病风险增加。在病例组与对照组之间,ALDH总活性无明显差异。结论 ALDH2基因G1510A变异可能与NPC患病风险存在相关性,有待加大样本量作进一步研究。

Objective To investigate the association between G1510A polymorphism in the ALDH2 gene and genetic susceptibility to nasopharyngeal carcinoma（NPC）.Methods A total of 156 participants,including 70 patients diagnosed with NPC and 86 healthy control subjects,were genotyped by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） assay and PAGE electrophoresis.Results AA,GA and GG genotype frequencies were 24.29%,30.00% and 45.71% respectively,A and G allele frequencies were 39.29% and 60.71% respectively in AMI group;AA,GA and GG genotype frequencies were 12.79%,25.58% and 61.63% respectively,A and G allele frequencies were 25.58% and 74.42% respectively in control group.A allele frequency in the patient group was higher than that in the control group（OR=1.88,95%CI=1.16~3.05,P0.05）.Conclusion The study indicated that ALDH2 gene G1510A polymorphism might be related to NPC risk,it′s necessary to increase sample size for further study.