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目的检测胃癌患者外周血中丝氨酸蛋白酶抑制剂B1(Serpin B1)基因H67Q位点多态性的情况及Serpin B1蛋白的水平,并对其关系进行探讨。方法选取2013年1月至2015年12月在本院就诊并确诊为胃癌的350例患者为病例组,同期健康体检者350例为对照组。留取外周血,应用PCR扩增联合DNA直接测序法检测Serpin B1基因H67Q位点在2组中的分布情况,同时检测Serpin B1蛋白的水平。将病例组和对照组按基因型再次分组,观察各基因型与Serpin B1浓度的关系。Logistic回归分析探讨Serpin B1基因H67Q位点多态性与胃癌的关系。结果 Serpin B1基因H67Q位点存在T和G2种等位基因,共发现3种基因型:野生型纯合子(TT)、杂合突变型(GT)、纯合突变型(GG)。病例组GG、GT基因型频率及G等位基因均显著高于对照组(P<0.05)。病例组外周血Serpin B1浓度水平明显高于对照组(P<0.05)。按基因型分组后,病例组和对照组中GG基因型者外周血Serpin B1浓度水平明显高于GT、TT基因型者,GT基因型者外周血Serpin B1浓度高于TT基因型(P<0.05)。Logistic分析结果显示,GG基因型及G等位基因是胃癌的独立危险因素(OR值为9.485,95%CI为2.169~44.283,P=0.006;OR值为5.105,95%CI为1.847~13.360,P=0.014)。结论 Serpin B1基因H67Q位点多态性与胃癌有关。
Objective To detect the H67Q polymorphism of Serpin B1 gene and the level of Serpin B1 protein in peripheral blood of gastric cancer patients and to explore its relationship. Methods 350 patients diagnosed as gastric cancer in our hospital from January 2013 to December 2015 were selected as the case group and 350 healthy controls were selected as the control group. Peripheral blood was collected. The distribution of H67Q in Serpin B1 gene in two groups was detected by PCR amplification and DNA direct sequencing, and the level of Serpin B1 protein was also detected. The case group and the control group were grouped again by genotype to observe the relationship between each genotype and Serpin B1 concentration. Logistic regression analysis was used to investigate the relationship between Serpin B1 H67Q polymorphism and gastric cancer. Results There were T and G2 alleles in the H67Q locus of Serpin B1 gene. Three genotypes were found: TT, GT and GG. The frequencies of GG, GT genotypes and G allele in case group were significantly higher than those in control group (P <0.05). The concentration of Serpin B1 in the peripheral blood of the case group was significantly higher than that of the control group (P <0.05). Seroprevalence of Serpin B1 in GG genotypes of patients and controls was significantly higher than that of GT and TT genotypes (P <0.05). Genotypes of Serpin B1 in GT genotypes were higher than TT genotypes (P <0.05) ). Logistic analysis showed that GG genotype and G allele were independent risk factors for gastric cancer (OR = 9.485, 95% CI: 2.169-44.283, P = 0.006; OR = 5.105, 95% CI: 1.847-13.360, P = 0.014). Conclusion Serpin B1 gene H67Q polymorphism is associated with gastric cancer.