摘要
目的:研究CD133基因3-UTR区域变异位点(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群非小细胞肺癌的相关性。方法:选取420例云南汉族非小细胞肺癌患者为病例组,588例云南汉族健康个体作为对照组;采用Taq Man探针基因分型方法对2组受试者CD133基因中rs2240688和rs3130位点进行基因分型,并采用χ2检验分析上述两SNPs位点等位基因、基因型及构建的单倍型分布频率在病例组与对照组中的差异。结果:病例组与对照组rs2240688位点等位基因和基因型分布频率比较差异有统计学意义(P=0.013、0.033),而两组rs3130等位基因和基因型分布频率比较差异无统计学意义(P>0.05),rs2240688位点等位基因G是云南汉族非小细胞肺癌的风险性因素(OR=1.301,95%CI为1.056～1.601),rs2240688及rs3130间存在强连锁(D'>0.8);构建的两个SNPs位点的单倍型中rs2240688G-rs3130C与肺癌风险升高有关(OR=1.238,95%CI为1.003～1.528),而单倍型rs2240688T-rs3130C可能是肺癌发生的保护性因素(OR=0.828,95%CI为0.690～0.994)。结论:CD133基因3-UTR区域的SNP位点rs2240688与云南汉族人群非小细胞肺癌相关,等位基因G可能是云南汉族人群非小细胞肺癌的风险性因素。
Objective:To study the association of single nucleotide polymorphisms(SNPs,rs2240688 and rs3130) of CD133 gene in 3-UTR region mutation sites with non-small cell lung cancer in Yunnan Han population.Methods:A total of 420 patients with non-small cell lung cancer in Yunnan Han population were enrolled as the case group,and 588 healthy individuals from Yunnan Han population as the control group.The TaqMan probe genotyping method was performed to detect rs2240688 and rs3130 in the CD133 gene of the two groups.The χ^2 test was used to analyze the difference between the two SNPs loci alleles,genotypes and haplotype distribution frequencies in the case group and the control group.Results:There were significant differences in the frequencies of alleles and genotypes between the case group and the control group at rs2240688(P=0.013,0.033).whereas.the differences in the frequency of rs3130 alleles and genotypes between the two groups were not significant(P>0.05).Allele G in rs2240688 was a risk factor for non-small cell lung cancer in Han population in Yunnan(OR=1.301,95% CI 1.056~1.601).There is a strong linkage between rs2240688 and rs3130(D'>0.8).rs2240688G-rs3130C is associated with increased risk of lung cancer(OR=1.238,95% CI 1.003 to 1.528),whereas haplotype rs2240688T-rs3130C may be protective for lung cancer.Sexual factors(OR=0.828,95% CI 0.690~0.994).Conclusion:The rs2240688 in the 3-UTR region of CD133 gene is associated with non-small cell lung cancer in Yunnan Han population.Allele G may be a risk factor for non-small cell lung cancer in Yunnan Han population.
作者
洪超
赵雨笛
谭芳
李盈甫
马千里
刘楠楠
刘舒媛
史荔
李传印
HONG Chao;ZHAO Yudi;TAN Fang;LI Yingfu;MA Qianli;LIU Nannan;LIU Shuyuan;SHI Li;LI Chuanyin(Institute of Medical Biology,Chinese Academy of Medical Sciences & Peking Union Medical College,Kunming 650118,Yunnan,China;The 1st Affiliated Hospital of Kunming Medical University,Kunming 650032,Yunnan,China;The 3rd Affiliated Hospital of Kunming Medical University,Kunming 650118,Yunnan,China)
出处
《贵州医科大学学报》
CAS
2019年第1期26-30,共5页
Journal of Guizhou Medical University
基金
国家自然科学基金项目(81573206)
云南省应用基础研究重点项目(2016FA034)
中国医学科学院重大协同创新项目2016-12M-2-001
云南省应用基础研究计划-昆明医科大学联合专项课题2017FE468(-193)
2018FE001(-219)
