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目的:探讨中国福建地区汉族人群中ZO-1基因TJP1 4个已知位点单核苷酸多态性(SNPs)与胃癌遗传易感性及进展和预后的相关性。方法:应用PCR-LDR法检测福建医科大学附属第一医院200例健康体检个体及220例原发性胃腺癌患者TJP1基因4个SNP位点的基因型。结果:福建地区汉族人群中,TJP-1 SNP rs7179270位点稀有等位基因C的频率为0.2,而其他三个位点(rs34771010,rs28578444和rs41280058)稀有等位基因频率为0.0。TJP1基因SNP位点rs7179270 200例对照组等位基因C、T的频率分别为20%和80%,胃癌病例组等位基因C、T的频率为32.6%和67.4%;CC、C/T和TT的基因型频率在对照组分别为4%、32%和64%,而在病例组为10.9%、43.2%和45.9%,差异具有统计学意义(OR=1.953,95%CI 1.425～2.677,P<0.001)。TJP1 rs7179270位点基因型与胃癌患者的性别、年龄、分化程度、浸润深度、淋巴结转移及手术后生存时间无显著相关(P>0.05)。结论:TJP1rs7179270位点携带等位基因C的CC和C/T基因型个体的胃癌患病风险提高,提示检测该位点基因型有助于评估胃癌的遗传易感性;TJP1 rs7179270位点的基因型频率与临床病理学参数及胃癌患者手术后生存时间无显著相关性,提示TJP1 rs7179270位点多态性可能不参与胃癌的进展和预后;TJP1 rs34771010、rs28578444和rs41280058稀有等位基因频率为0.0,推测中国福建地区人群可能无这三个位点的多态性分布。
Objective: To investigate the association between SNPs of ZO-1 gene TJP1 and the genetic predisposition, progression and prognosis of gastric cancer in Chinese Han population of Fujian province in China. Methods: PCR-LDR was used to detect the genotypes of four SNPs of TJP1 gene in 200 healthy volunteers and 220 cases of primary gastric adenocarcinoma in the First Affiliated Hospital of Fujian Medical University. Results: The frequency of rare allele C was 0.2 in TJP-1 SNP rs7179270 locus in Fujian Han population, while the rare allele frequency was 0.0 in the other three loci (rs34771010, rs28578444 and rs41280058). The frequencies of allele C and T in 200 cases of control group were 20% and 80%, respectively. The frequencies of allele C and T in gastric cancer cases were 32.6% and 67.4% respectively. The frequencies of CC, C / T and TT genotype frequency was 4%, 32% and 64% in the control group, while in the case group was 10.9%, 43.2% and 45.9%, the difference was statistically significant (OR = 1.953, 95% CI 1.425-2.677, P <0.001). TJP1 rs7179270 locus genotype had no significant correlation with gender, age, differentiation, depth of invasion, lymph node metastasis and survival time after operation in patients with gastric cancer (P> 0.05). Conclusion: TJP1 rs7179270 locus allele C and C / T genotype individuals with increased risk of gastric cancer, suggesting that detection of this locus genotype contributes to the assessment of gastric cancer genetic susceptibility; TJP1 rs7179270 locus genotype There was no significant correlation between the frequency of TJP1 rs7179270 locus and clinical pathological parameters and survival time of patients with gastric cancer, suggesting that TJP1 rs7179270 polymorphism may not be involved in the progression and prognosis of gastric cancer. The frequencies of rare alleles of TJP1 rs34771010, rs28578444 and rs41280058 are 0.0 The population of Fujian in China may not have the polymorphism distribution of these three sites.