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目的 研究 p5 3基因第 72位密码子 Arg/ Pro多态与食管癌遗传易感性的关系。方法 采用聚合酶链反应 -限制性片段长度多态性方法检测了 91例食管癌患者与 2 0 4名正常对照的 p5 3Arg/ Pro基因型分布及差异。结果 正常对照组 p5 3Pro等位基因频率 (0 .5 88)与病例组 (0 .480 )比较差异无显著性(P=0 .11)。但 3种 p5 3基因型频率在病例组和对照组的分布差异有显著性 ,病例组的 Pro/ Pro基因型频率 (39.6 % )显著高于对照组 (2 1.1% )。携带 Pro/ Pro纯合变异基因型者患食管癌的风险比携带 Arg/ Arg纯合野生基因型者高 2倍 [校正比值比 (odds ratio,OR)为 2 .18,95 %可信区间 (confidence interval,CI)为1.10～ 4.35。杂合子基因型 (Arg/ Pro)与食管癌的遗传易感性无关 (校正 OR=0 .84,95 % CI=0 .42～1.6 8)。吸烟增加食管癌风险 (OR=2 .30 ,95 % CI=1.30～ 4.12 ) ,但与 Pro/ Pro基因型无协同作用。结论p5 3基因第 72位密码子纯合突变是中国人的食管癌易感因素。
Objective To study the relationship between the codon 72 codon Arg / Pro polymorphism of p5 3 gene and genetic predisposition of esophageal cancer. Methods The distribution and differences of p5 3Arg / Pro genotypes in 91 esophageal cancer patients and 204 normal controls were detected by polymerase chain reaction-restriction fragment length polymorphism. Results There was no significant difference in the frequency of the p5 3Pro allele between the normal control group (0.588) and the case group (0.488) (P = 0.11). However, the frequencies of the three genotypes of p53 genotypes were significantly different between the case and control groups. The frequency of Pro / Pro genotype (39.6%) in the case group was significantly higher than that of the control group (21.1%). Patients with Pro / Pro homozygous variant had a 2-fold higher risk of esophageal cancer than those carrying the Arg / Arg homozygous wild-type genotype [odds ratio (OR) was 2.18, 95% confidence interval confidence interval, CI) was 1.10 ~ 4.35. Heterozygous genotypes (Arg / Pro) were not associated with genetic susceptibility to esophageal cancer (adjusted OR = 0.84, 95% CI = 0.42-1.68). Smoking increased esophageal cancer risk (OR = 2.30, 95% CI = 1.30 ~ 4.12), but no synergistic effect with Pro / Pro genotype. Conclusion The codon 72 homozygous mutation of p5 3 gene is a predisposing factor for esophageal cancer in Chinese.