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

樊丽辉; 陈俊磊; 蔡琳

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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