DNA双链断裂修复基因NBS 1多态性与肺癌易感性的关联研究

目的 探讨DNA双链断裂修复基因NBS1多态性与肺癌遗传易感性的关系.方法 采用病例对照设计,应用PCR-RFLP技术检测575例患者和575名对照的NBS1基因多态.结果 对照组和病例组NBS1 rs1805794的C/C、C/G、G/G基因型频率分别为25.9%、51.8%、22.3%和20.5%、52.3%、27.1%,两组分布差异有统计学意义(χ~2=6.38,P=0.04),携带C/G+G/G基因型个体患肺癌的风险是携带C/C基因型者的1.46倍(OR=1.46,95%C1:1.09～1.97).对照组和病例组NBS1 rs2735383的G/G、G/C、C/C基因型频率分别为37.9%、47.0%、15.1%和35.5%、48.5%、16.0%,两组分布差异无统计学意义(χ~2=0.75,P=0.69).携带Hap4-GC单体型或Hap4/Hap2单体型对者患肺癌的风险增加,OR值分别为1.70(95%CI:1.24～2.31)和1.75(95%CI:1.11～2.76),NBS1基因多态与吸烟有联合作用(P＜0.05).结论 NBS1 rs1805794 G/G基因型可能是肺癌的易感基因型,rs1805794和rs2735383位点构建的Hap4-GC单体型及Hap4/Hap2单体型对可能是肺癌的易感单体型和单体型对.

Study on the association between DNA double-strand break repair gene NBSl polymorphisms and susceptibility on lung cancer

Objective To study the association between DNA double-strand break repair gene NBS1(nijmegen breakage syndrome gene)polymorphisms and the susceptibility to lung cancer.Methods A case-control study design was applied.PCR-RFLP was used to identify NBS1 polymorphisms among 575 lung cancer cases and 575 controls.Results The frequencies of C/C,C/G and G/G genotypes at NBS1 rs 1805794 site were 25.9%,51.8%,22.3% among controls compared to 20.5%,52.3%,27.1% among cases.There was significant difference between controls and cases(χ~2=6.38,P=0.04).Individuals carrying C/G + G/G genotypes had an increased risk for lung cancer (OR=1.46,95%CI:1.09-1.97)compared to the C/C genotype.The frequencies of G/G,G/C and C/C genotypes at NBS1 rs2735383 site were 37.9%,47.0%,15.1% among controls compared to 35.5%,48.5%,16.0% among cases,with no significant difference between the two groups(χ~2=0.75,P=0.69).Individuals earning Hap4-GC haplotype(OR=1.70,95%CI:1.24-2.31)and Hap4/Hap2 dihaplotype(OR=1.75,95%CI:1.11-2.76)had an increased risk on lung cancer.Joint associations of smoking and the NBS1 polymorphism with the risk of lung cancer were observed(P＜0.05).Conclusion The G/G genotype at NBS1 rs1805794 site and the Hap4-GC haplotype and Hap4/Hap2 dihaplotype from rs1805794 and rs2735383 were both associated with lung cancer.