Z0-1 SNPs与胃癌遗传易感性及预后

Relationship of ZO-1 SNP Polymorphisms with Susceptibility and Prognosis of Gastric Cancer

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 relationship of four known single nucleotide polymorphisms （SNPs） of the TJP1 gene with susceptibility and prognosis of gastric carcinoma in a Fujian Chinese Han cohort. Methods： TJP1 gene 4 SNP loci genotypes of 200 healthy people and 220 gastric carcinoma patients were assayed using PCR-based LDR analysis. Results： The frequency of rare allele C in the TJP1 SNP rs7179270 locus was 0.2, while the frequency of rare allele in the other three SNP loci （rs34771010, rs28578444, rs41280058） was 0.0. The frequencies of C and T alleles and CC, CT, TT genotypes at the TJP1 rs7179270 locus were significantly different between patients with gastric carcinoma and the con- trol groups （OR=1.953, 95% CI 1.425-2.677, P〈0.001）. These frequencies were not significantly related to sex, age, degree of differentiation, depth of invasion, lymph node metastasis or survival in patients with gastric carcinoma （P〉0.05）. Conclusion： Individuals with CC and CT genotypes at the TJP1 rs7179270 locus have increased risk of gastric carcinoma, suggesting that screening for this genotype would be helpful in assessing the genetic susceptibility of gastric carcinoma. The frequency of these genotypes is not significantly related to clinicopathologic parameters or survival in gastric carcinomas, suggesting that TJP1 rs7179270 polymorphism may not be involved in the progress and prognosis of gastric carcinoma.