目的利用HapMap数据库筛选标签SNPs,构建单体型,探讨XRCC3基因多态性与肺癌的关联。方法采用病例对照研究设计,以问卷调查获取研究对象的吸烟状况。采集病例的外周血与对照的唾液和口腔细胞,提取DNA,以PCR-RFLP技术对XRCC3的SNPs分型。应用Haploview挑选标签SNPs,LDA检验HWE与LD,SPSS分析最优遗传模型及SNPs与肺癌的关联,THESIAS推断单体型频率及其对肺癌的影响。结果 XRCC3的rs861537 AG或AA携带者的肺癌风险较GG携带者高(OR=1.48,95%CI 1.17~1.86);携带一个rs1799794 G,肺癌风险即降低(OR=0.83,95%CI 0.72~0.97);rs861539多态性与肺癌无明显关联。吸烟与rs861537变异存在交互作用。以单体型CGG为参照,携带CAA增加了肺癌风险(OR=1.32,95%CI1.11~1.57)。结论 XRCC3基因多态与肺癌发生相关。
Objective To explore the relationship between XRCC3 and lung cancer after selecting tag SNPs from HapMap database and reconstructing haplotypes.Methods Using case-control study design,smoking condition were surveyed by questionare.Peripheral blood of cases and saliva or buccal cell for controls were collected,and then their DNA were extracted.XRCC3 tagSNPs were genotyped by PCR-RFLP.TagSNPs were selected by Haploview,HWE and LD were checked by LDA.Best genetic model and relationship between tagSNPs and lung cancer were analysed by SPSS,and haplotype frequencies and effects were computed by THESIAS.Results Carriers of rs861537 AG or AA genotype had a statistically significantly increased risk for lung cancer(OR =1.48,95% CI: 1.17-1.86).Carriers of rs1799794 per G allele had a statistically significantly decreased risk for lung cancer(OR = 0.83,95% CI: 0.72-0.97);no significant association was observed between rs861539 and lung cancer.Smoke interacted with rs861537 polymorphism.Compared with CGG haplotype,carriers of CAA had a statistically significantly increased risk for lung cancer(OR = 1.32,95% CI 1.11-1.57).Conclusion XRCC3 gene polymorphisms were associated with lung cancer.