CAJ | 학술논문

背景与目的:毛细血管扩张性共济失调症突变基因(ataxia-telangiectasia mutated,ATM)是导致毛细血管扩张性共济失调症发生的致病基因,与肿瘤的发生密切相关.ATM基因是一个重要的信号传感器,可以通过将目标蛋白磷酸化从而修复DNA双链的断裂.本研究旨在探讨ATM基因(IVS62+60G>A)单核苷酸多态性与非小细胞肺癌(non-small cell lung cancer,NSCLC)发生的相关性.方法:收集2004年6月-2005年12月期间浙江省肿瘤医院就诊的264例NSCLC患者标本以及264例健康体检者作为正常对照组,分离外周血白细胞DNA.ATM基因单核苷酸多态性分型检测采用Taqman探针基因分型技术,应用Logistic回归统计分析ATM单核苷酸多态性与NSCLC发生相关性.结果:在NSCLC病例组中,A/A基因型占32.6%,A/G基因型占52.6%,G/G基因型占14.8%.而正常对照组中相应的数值分别为26.0%、53.0%和21.0%.在NSCLC病例组中,携带基因型G/G的比率明显低于正常对照组(14.8% vs 21.0%,P<0.08).携带有G/G基因型者肺癌发生的风险明显低于携带有A/A基因型者(OR=0.561,95%CI为0.334～0.942,P=0.029).结论:ATM单核苷酸多态性(IVS62+60G>A)与NSCLC发生密切相关,G等位基因的纯合状态可能是发生NSCLC的保护性因素.
배경여목적:모세혈관확장성공제실조증돌변기인(ataxia-telangiectasia mutated,ATM)시도치모세혈관확장성공제실조증발생적치병기인,여종류적발생밀절상관.ATM기인시일개중요적신호전감기,가이통과장목표단백린산화종이수복DNA쌍련적단렬.본연구지재탐토ATM기인(IVS62+60G>A)단핵감산다태성여비소세포폐암(non-small cell lung cancer,NSCLC)발생적상관성.방법:수집2004년6월-2005년12월기간절강성종류의원취진적264례NSCLC환자표본이급264례건강체검자작위정상대조조,분리외주혈백세포DNA.ATM기인단핵감산다태성분형검측채용Taqman탐침기인분형기술,응용Logistic회귀통계분석ATM단핵감산다태성여NSCLC발생상관성.결과:재NSCLC병례조중,A/A기인형점32.6%,A/G기인형점52.6%,G/G기인형점14.8%.이정상대조조중상응적수치분별위26.0%、53.0%화21.0%.재NSCLC병례조중,휴대기인형G/G적비솔명현저우정상대조조(14.8% vs 21.0%,P<0.08).휴대유G/G기인형자폐암발생적풍험명현저우휴대유A/A기인형자(OR=0.561,95%CI위0.334～0.942,P=0.029).결론:ATM단핵감산다태성(IVS62+60G>A)여NSCLC발생밀절상관,G등위기인적순합상태가능시발생NSCLC적보호성인소.
Background and purpose: The ataxia-telangiectasia mutated (ATM) gene results in ataxia-telangiectasia (A-T) and it is closely associated with tumors. ATM is an important signal transducer that is involved in the repair of DNA double-strand break damage by phosphorylating numerous target proteins . This study was aimed to investigate the correlation between a single nucleotide polymorphism (SNP) in ATM gene (IVS62+60G>A) and the risk of non-small cell lung cancer(NSCLC) in a case-control study. Methods: From June 2004 to December 2005, a total of 264 patients with NSCLC were recruited, 264 healthy people as control. All of specimens were collected from Zhejiang Tumor Hospital. DNA was extracted from peripheral blood and then was used to determine. ATM genotype by Taqman SNP genotyping assays. Logistic regression model was employed to analyze the relationship between SNP and NSCLC risk. Results: The percentage of NSCLC patients in 86 patients with A/A genotype, 139 patients with A/G and 39 patients with G/G were 32.6% (86/264), 52.6% (139/264), 14.8% (39/264), respectively. The percentage in 68 healthy people with A/A genotype, 139 healthy people with NG and 55 healthy people with G/G were 26.0% (68/262), 53.0% (139/262) and 21.0% (55/262), respectively. The proportion of G/G genotype in 264 patients was obviously lower than that in the 264 healthy control (14.8% vs 21.2%, P<0.05). The people with G/G genotype had lower risk to NSCLC than there with A/A genotype (OR=0.561, 95% CI=0.334-0.942, P=0.029). Conclusion: The ATM SNP(IVS62+60G>A)was associated with the NSCLC risk, and homozygous G alleles may be a protective factor to NSCLC.