CLPTM1L变异与云南汉族人群非小细胞肺癌的相关性

Association of CLPTM1L variants with non-small cell lung cancer in Yunnan Han population

目的探究唇腭裂跨膜1样蛋白(CLPTM1L)基因调控区单核苷酸多态性(SNP)变异位点(rs27069、rs27070、rs27071及rs27996)与云南地区汉族人群非小细胞肺癌发生风险的相关性。方法500例非小细胞肺癌患者作为病例组、613例健康对照个体作为对照组,采用TaqMan探针法对两组受试者外周血CLPTM1L基因调控区rs27069、rs27070、rs27071和rs27996位点进行基因分型,并采用χ2检验分析上述4个SNP位点的等位基因、基因型及单倍型分布频率。结果rs27071的等位基因和基因型分布频率在对照组和病例组间比较差异有统计学意义(P=0.006和P=0.004),该位点的C等位基因可能是非小细胞肺癌的保护性因素(OR=0.65,95%CI为0.50~0.89);而rs27069、rs27070和rs27996位点的等位基因和基因型分布频率在病例组和对照组间比较差异无统计学意义(P>0.0125);单倍型分析结果显示,单倍型rs27069[T]-rs27070[C]-rs27071[C]-rs27996[G]与降低非小细胞肺癌发生风险相关(P=0.006,OR=0.662,95%CI为0.493~0.890)。结论CLPTM1L调控区SNP位点rs27071与云南地区汉族人群肺癌的发病风险相关,该位点等位基因C可能是非小细胞肺癌的保护性因素。

Objective To explore the association of single nucleotide polymorphisms(SNPs;rs27069,rs27070,rs27071,and rs27996)in the regulatory region of the cleft lip and palate transmembrane 1-like protein(CLPTM1L)gene with the risk of non-small cell lung cancer(NSCLC)in the Han population in Yunnan.Methods A total of 500 patients with NSCLC were selected as a case group,while 613 healthy subjects were selected as a control group.TaqMan probe assay was performed to genotype rs27069,rs27070,rs27071,and rs27996 loci in CLPTM1L gene regulatory region in the peripheral blood of two groups.The alleles,genotypes and haplotype distribution frequencies of the above four SNP loci were analyzed byχ2 test.Results The allelic and genotypic distributions of rs27071 were significantly different between case and control groups(P=0.006 and P=0.004).The allele C at rs27071 may be a protective factor against NSCLC(OR=0.65,95%CI was 0.50-0.89).However,the allelic and genotypic distributions of rs27069,rs27070,and rs27996 were not significantly different between control and case groups(P>0.0125).Haplotype analysis showed that the haplotypes rs27069[T]-rs27070[C]-rs27071[C]-rs27996[G]were associated with reduced risk for NSCLC(P=0.006;OR=0.662,95%CI was 0.493-0.890).Conclusion rs27071 in the regulatory region of CLPTM1L is associated with the risk of lung cancer in the Han population in Yunnan,with the allele C of rs27071 may be a protective factor against NSCLC.