机构地区:[1]西安交通大学医学院附属3201医院微生物免疫检验科分子诊断实验室,陕西汉中723000 [2]西安交通大学医学院附属3201医院肿瘤内科一病区,陕西汉中723000 [3]西安交通大学医学院附属3201医院临床医学检验科,陕西汉中723000
出 处:《国际检验医学杂志》2020年第12期1473-1478,共6页International Journal of Laboratory Medicine
摘 要:目的探讨人类ErbB2转录因子1(TOB1)基因多态性与陕西汉族人群胃癌之间的关系。方法选取320例胃癌患者为胃癌组,350例经胃镜检查及病理活检排除胃癌的门诊患者为对照组,对TOB1基因4个候选单核苷酸多态性(SNP)位点(rs61482741、rs34700818、rs12601477、rs4626)进行基因分型。分析TOB1基因候选SNP位点等位基因、基因型、显性模式和隐性模式频率与胃癌风险的关系;分析TOB1基因候选SNP位点连锁不平衡情况。结果胃癌组与对照组TOB1基因4个候选SNP位点基因分型结果均符合哈迪-温伯格平衡(P>0.05)。TOB1基因易感位点包括内含子区域rs61482741位点G等位基因(P=0.011,OR=1.42,95%CI=1.15~1.78)、GG基因型(P=0.016,OR=1.91,95%CI=1.18~3.23)、显性模式GG+CG基因型(P=0.032,OR=1.44,95%CI=1.05~1.93)、隐性模式GG基因型(P=0.043,OR=1.68,95%CI=1.03~2.74);外显子区域rs4626位点G等位基因(P=0.006,OR=1.41,95%CI=1.16~1.76)、GG基因型(P=0.006,OR=1.85,95%CI=1.20~2.85)、显性模式GG+AG基因型(P=0.023,OR=1.53,95%CI=1.10~2.16)、隐性模式GG基因型(P=0.028,OR=1.56,95%CI=1.09~2.21);内含子区域rs34700818和rs12601477位点等位基因、基因型、显性模式和隐性模式频率在胃癌组与对照组间比较,差异均无统计学意义(P>0.05)。结论TOB1基因内含子区域rs61482741和外显子区域rs4626位点可能是陕西汉族人群胃癌高风险易感基因位点。Objective To investigate the relationship between human transducer of ErbB21(TOB1)gene polymorphism and gastric cancer in Han population in Shaanxi.Methods A total of 320 gastric cancer patients were selected as the gastric cancer group,and 350 outpatients with gastroscopy and pathological biopsy to exclude gastric cancer were selected as the control group.Genotyped the 4 candidate single nucleotide polymorphism(SNP)loci of TOB1 gene(rs61482741,rs34700818,rs12601477,rs4626).The relationship between the frequency of alleles,genotypes,dominant and recessive patterns of candidate SNP loci of TOB1 gene and the risk of gastric cancer were analyzed.The linkage disequilibrium of candidate SNP loci of TOB1 gene was analyzed.Results The 4 candidate SNP loci of TOB1 gene in the gastric cancer group and the control group all met the Hardy-Weinberg equilibrium(P>0.05).The susceptible loci of TOB1 gene included the G allele(P=0.011,OR=1.42,95%CI=1.15-1.78),GG genotype(P=0.016,OR=1.91,95%CI=1.18-3.23),dominant pattern GG+CG genotype(P=0.032,OR=1.44,95%CI=1.05-1.93)and recessive pattern GG genotype(P=0.043,OR=1.68,95%CI=1.03-2.74)in the intron region rs61482741 loci;the G allele(P=0.006,OR=1.41,95%CI=1.16-1.76),GG genotype(P=0.006,OR=1.85,95%CI=1.20-2.85),dominant pattern GG+AG genotype(P=0.023,OR=1.53,95%CI=1.10-2.16)and recessive pattern GG genotype(P=0.028,OR=1.56,95%CI=1.09-2.21)in the exon region rs4626 loci.The frequency of alleles,genotypes,dominant and recessive patterns of intron regions rs34700818 and rs12601477 loci showed no significant difference between the gastric cancer group and the control group(P>0.05).Conclusion The intron region rs61482741 loci and exon region rs4626 loci of TOB1 gene may be high-risk susceptible gene loci for gastric cancer in Han population in Shaanxi.
关 键 词:ErbB2转录因子1 单核苷酸多态性 胃癌
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