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目的拟探究p53基因信号通路下游的p21WAF1/CIP1基因编码区第31位密码子(codon31)多态性和吸烟、饮酒等环境因素与宁夏汉族食管癌易感性的关系。方法收集宁夏地区80例汉族食管癌患者和200例汉族正常人外周血液样本。提取基因组DNA,PCR后直接测序检测SNP位点。以χ2检验分析单个SNP基因型和等位基因频率在病例组和对照组的分布;应用非条件Logistic回归模型分析p21WAF1/CIP基因SNP位点与环境因素对食管癌危险程度的影响,计算OR值和95%置信区间。结果 (1)食管癌组80例患者中吸烟和饮酒者分别为44例(55.00%)和23例(28.75%),高于对照组200例健康人的53例(26.5%)和29例(14.50%),两组间分布有统计学差异(P<0.05);(2)p21WAF1/CIP1codon31有三种基因型:纯合Arg/Arg、杂合Arg/Ser和纯合Ser/Ser,其中Ser/Ser纯合基因型在食管癌组与对照组中的分布有统计学差异(35.00%vs.21.00%,P<0.05),而且Ser/Ser纯合基因型可以显著增加食管癌的患病风险(OR=2.170,95%CI=1.180～3.992,P<0.05)。(3)Ser/Ser纯合基因型与饮酒的交互作用能显著提高食管癌的发病风险(OR=5.505,95%CI=2.044～14.830,P<0.05)。结论本研究发现p21WAF1/CIP1 codon31的Ser/Ser纯和基因型可能与宁夏汉族人群食管癌的发生相关,吸烟和饮酒可能是宁夏汉族人群食管癌高发的危险因素之一。p21WAF1/CIP1codon31三种基因型与饮酒对食管癌的发病均有正相加交互作用,其中尤以Ser/Ser纯合体基因型和饮酒的交互作用对食管癌的发病有更加显著的影响。
Objective To explore the relationship between codon 31 polymorphism of p21WAF1 / CIP1 gene coding region downstream of p53 gene signaling pathway and smoking, alcohol drinking and the susceptibility of Han Chinese esophageal cancer. Methods Eighty Han patients with esophageal cancer and 200 normal Han peripheral blood samples were collected from Ningxia. Genomic DNA was extracted and sequenced directly to detect SNP sites after PCR. The distribution of single SNP genotype and allele frequency in case group and control group was analyzed by χ2 test. The non-conditional Logistic regression model was used to analyze the influence of SNP locus of p21WAF1 / CIP gene and environmental factors on the risk of esophageal cancer, and the OR value And 95% confidence interval. Results Among the 80 patients in esophageal cancer group, smoking and drinking were 44 (55.00%) and 23 (28.75%) respectively in smoking and drinking groups, which were higher than those in control group (53.5% vs 26.5%) and 29 (P <0.05). (2) There are three genotypes of p21WAF1 / CIP1codon31: homozygous Arg / Arg, hybrid Arg / Ser and homozygous Ser / Ser, among which Ser / Ser homozygous genotype in esophageal cancer group and control group distribution was statistically significant (35.00% vs.21.00%, P <0.05), and Ser / Ser homozygous genotypes can significantly increase the risk of esophageal cancer ( OR = 2.170, 95% CI = 1.180-3.992, P <0.05). (3) The interaction between Ser / Ser homozygous genotypes and alcohol consumption could significantly increase the risk of esophageal cancer (OR = 5.505, 95% CI = 2.044-14.830, P <0.05). Conclusions This study found that the Ser / Ser pure and genotypes of p21WAF1 / CIP1 codon31 may be related to the occurrence of esophageal cancer in Ningxia Han population. Smoking and alcohol consumption may be one of the risk factors of esophageal cancer in Ningxia Han population. The three genotypes of p21WAF1 / CIP1codon31 and alcohol drinking had a positive interaction with esophageal cancer, especially the interaction of Ser / Ser homozygote genotype and alcohol consumption had a more significant effect on the incidence of esophageal cancer.