CD133基因3-UTR区域变异位点与云南汉族人群宫颈癌的相关性

Rs2240688 in CD133 Gene Was Associated with Cervical Cancer in A Chinese Han Population in Yunnan Province

目的:研究CD133基因3-UTR区域的(rs2240688和rs3130)单核苷酸多态性位点(SNPs)与云南汉族人群宫颈癌的相关性。方法:选取云南汉族宫颈癌患者428例作为病例组,455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:rs2240688位点等位基因和基因型分布频率在病例组和对照组比较,差异具有统计学意义(P=0.019、0.040),该位点等位基因G是宫颈癌的风险性因素(OR=1.292,95%CI为1.042～1.601);而rs3130位点等位基因和基因型分布频率在病例组和对照组比较,差异无统计学意义(P>0.05);单倍型分析结果显示,单倍型rs2240688G-rs3130C是宫颈癌发生的风险性因素(P=0.023,OR=1.300,95%CI为1.037～1.630)。结论:CD133基因3-UTR区域的SNP位点rs2240688与云南汉族人群宫颈癌的发病风险相关,该位点等位基因G可能是宫颈癌发生的风险性因素。

Objective:To study the association of two single nucleotide polymorphisms(SNPs) rs2240688 and rs3130 located at 3-UTR region of CD133 gene with cervical cancer in Han population from Yunnan province.Methods:A total of 428 patients with cervical cancer in Han population in Yunnan province were enrolled as the case group,and 455 healthy individuals from Yunnan Han population as the control group.The rs2240688 and rs3130 sites in the CD133 gene were detected using using TaqMan assays.The χ^2 test was used to analyze the differences in the frequency of alleles,genotypes and haplotype distribution frequency between the two SNPs in the case group and the control group.Results:The allelic and genotypic distributions of rs2240688 were significantly different between case and control groups(P=0.019 and 0.040,respectively).The allele G is a risk factor of cervical cancer(OR=1.292,95%CI:1.042~1.601).However,there is no difference of the allelic and genotypic frequencies of rs3130 between case and control groups(P>0.05).Haplotype analysis showed that The haplotype rs2240688G-rs3130C was associated with a high risk of cervical cancer(P=0.023 ,OR=1.300;95%CI:1.037~1.630).Conclusion:rs2240688 in the 3-UTR region of CD133 gene is associated with the risk of cervical cancer in Yunnan Han population.The allele G may be a risk factor for cervical cancer.