文章摘要
樊丽辉,陈俊磊,蔡琳.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[J].中华流行病学杂志,2010,31(2):213-217
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
Study on the association between DNA double-strand break repair gene NBSl polymorphisms and susceptibility on lung cancer
收稿日期:2009-06-17  出版日期:2014-09-12
DOI:
中文关键词: 肺肿瘤  DNA双链断裂修复基因NBSl  基因多态  遗传易感性
英文关键词: Hung neoplasms  DNA doubie-strand break repair gene NBSl  Gene polymorphism  Genetic susceptibility
基金项目:国家自然科学基金(30771845);福建省科技开发计划(2005D075)
作者单位E-mail
樊丽辉 福州, 福建医科大学公共卫生学院流行病学教研室, 350004
温州市疾病预防控制中心 
 
陈俊磊 福建省疾病预防控制中心  
蔡琳 福州, 福建医科大学公共卫生学院流行病学教研室, 350004 cailin_cn@hotmail.com 
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中文摘要:
      目的探讨DNA双链断裂修复基因NBSl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NBSl基因多态。结果对照组和病例组NBSI rsl805794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(x'----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%C1:1.09一1.97)。对照组和病例组NBSi rs2735383的G/G、G/C、C/C基因型频率分别为37.9%、47.O%、15.1%和35.5%、48.5%、16.O%,两组分布差异无统计学意义(f=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:1.1l~2.76),NBSI基因多态与吸烟有联合作用(P<0.05)。结论NBSl rsl805794 G/G基因型可能是肺癌的易感基闪型,rsl 805794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。
英文摘要:
      Objective To study the association between DNA double-strand break repair gene NBSl(nijmegen breakage syndrome gene)polymorphisms and the susceptibility to lung cancel'.Methods A case-control study design was applied.PCIoI强LP Was used to identify NBSI polymorphisms among 575 lung cancer cases and 575 controls.Results The frequencies of C/C.C/Gand G/G genotypes at NBSl rs l805794 site were 25.9%.5 1.8%.22.3%among controls compared to20.5%,52.3%。27.1%among cases.There was significant difference between controls and cases(f=6.38,P=O.04).Individuals carrying C/G+(3/G genotypes had an increased risk for lung cancer (OR=1.46,95%C,:1.09一1.97)compared to the C/C genotype.The frequencies ofG/G,G/C and C/C genotypes at NBS l rs2735383 site were 37.9%,47.O%。1 5.1%among controls compared to 35.5%,48.5%,16.0%among cases,with no significant difference between the two groups(f=o.75,P=O.69).Individuals carrxing Hap4.GC haplotype(OR=1.70.95%C,: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 NBSl polymorphism with the risk of lung cancer were observed(P<0.05).Conclusion 111e G/G genotype at NBSI rsl 805794 site and the Hap4一CrC hapiotype and Hap4/Hap2 dihaplotype from rs 1 805794 and rs2735383 were both associated with lung cancer.
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