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目的 探讨中国人群p73基因 5’UTR区域两个单核苷酸多态性 (G4C14 ,A4T14 )与肺癌的关系。方法 采用病例对照研究 ;选择经组织学确诊的肺癌病例 4 2 5例 ,地区、年龄和性别频数匹配的对照 5 88名 ,以聚合酶链反应 单链构象多态性方法进行多态性检测。结果 此两个多态性之间具备完全的连锁不平衡 ,AT(A4T14 )单倍型在病例组显著少于对照组 (0 .2 2 5vs.0 .2 87,P =0 .0 0 18) ,提示变异的AT单倍型对肺癌具有保护作用。与携带p73GC GC单倍型基因型者比较 ,携带GC AT单倍型基因型者肺癌风险降低 30 % (OR =0 .70 ,95 %CI:0 .5 3～ 0 .92 ) ,而携带AT AT单倍型基因型者肺癌风险降低 5 5 % (OR =0 .70 ,95 %CI:0 .2 6～ 0 .80 )。结论 p73基因多态改变可能与中国汉族人群肺癌遗传易感性有关。
Objective To investigate the relationship between two single nucleotide polymorphisms (G4C14, A4T14) in the 5’UTR region of p73 gene and lung cancer in Chinese population. Methods A case-control study was conducted. A total of 425 cases of lung cancer diagnosed by histology were selected. A total of 5 88 matched controls were selected by region, age and sex frequency. Polymorphism was detected by single strand conformation polymorphism (PCR). As a result, there was a complete linkage disequilibrium between the two polymorphisms. AT (A4T14) haplotype was significantly less in the case group than in the control group (0.225 vs.0.287, P = 0.018 ), Suggesting that variant AT haplotype has a protective effect on lung cancer. Patients with the GC AT haplotype genotype had a 30% lower risk of lung cancer (OR = 0.70, 95% CI: 0.53-0.92) compared with those carrying the haplotype p73 GC GC genotype, while those carrying the AT AT haplotype genotypes reduced the risk of lung cancer by 55% (OR = 0.70, 95% CI: 0.226-0.80). Conclusion The polymorphism of p73 gene may be related to genetic susceptibility to lung cancer in Chinese Han population.