摘要
目的探讨DNA的修复基因着色性干皮病基因B(XPB)、XPD、XPG的单核苷酸多态性和单体型与肺癌遗传易感的关联。方法用病例-对照研究的方法,选择海南省有吸烟暴露史、诊断明确的肺癌患者100例为病例组,与其有相近吸烟暴露史、胸外科其他疾病(如胸外伤、支气管扩张、肺结核等)患者100例为对照组。采用质谱法检测XPB基因rs4150441和rs4150434,XPD基因rs171140和rs11878544,XPG基因rs4771436、rs2094258、rs17655位点的多态性,采用Halopview软件进行单体型构建,探讨XP基因多态性及单体型与肺癌遗传易感性的关联。结果XPB基因的rs4150434位点,携带GA基因型个体患肺癌的易感性是携带GG基因型个体的2.071倍(OR=2.071,95%CI 1.055~4.067),携带AA基因型个体患肺癌的易感性是携带GG基因型个体的2.535倍(OR=2.535,95%CI 1.063~6.044)。XPG基因的rs4771436位点,携带GG基因型个体患肺癌的风险是携带TT基因型个体的2.494倍(OR=2.494,95%CI 1.038~5.992)。XPG基因的rs2094258位点,携带AA基因型个体对肺癌的易感性是携带GG基因型个体的3.020倍(OR=3.020,95%CI 1.015~8.980)。单体型结果显示,XPB基因rs4150441位点(G>A)和XPB rs4150434位点(G>A)所构成的单体型中,GA单体型的肺癌易感性是GG单体型的3.643倍(OR=3.643,95%CI 1.113~11.921)。XPG基因rs2094258位点(G>A)、rs4771436位点(T>G)和rs17655位点(C>G)所构成的单体型中,ATC单体型的肺癌易感性是GTC单体型的3.800倍(OR=3.800,95%CI 1.073~13.459)。结论XPB rs4150434、XPG rs4771436、XPG rs2094258位点多态性与肺癌的遗传易感性相关联,XPB基因的GA单体型和XPG基因的ATC单体型可能增加肺癌的发病风险。
OBJECTIVE To investigate the association of DNA repair gene XPB,XPD and XPG gene polymorphisms and haplotypes with genetic susceptibility to lung cancer. METHODS A case-control study was conducted,the case group was 100 lung cancer patients in Hainan Province,while the control group was 100 cases of respiratory diseases in Hainan Province. The polymorphism of XPB gene rs4150441 and rs4150434 loci,the polymorphism of the rs171140 and rs11878544 loci of the XPD gene,the XPG gene rs4771436,and the polymorphism of the rs2094258 and rs17655 loci were detected by mass spectrometry. Halopview software was used to investigate the association between XP gene polymorphism and haplotype and genetic susceptibility to lung cancer.RESULTS The experimental result showed that the rs4150434 locus of XPB gene,the rs4771436 locus of XPG gene and the rs2094258 locus of XPG gene were associated with the genetic susceptibility of lung cancer(P < 0. 05). Among the rs4150434 loci of XPB gene,the susceptibility of individuals carrying heterozygous GA to lung cancer was 2. 071 times than wild type GG(OR = 2. 071,95% CI = 1. 055-4. 067). The susceptibility of individuals with mutant AA to lung cancer was 2. 535 times than wild type GG(OR =2. 535,95%CI = 1. 063-6. 044). In the rs4771436 locus of XPG gene,the susceptibility of individuals carrying mutant GG to lung cancer was 2. 494 times than wild type TT(OR = 2. 494,95% CI = 1. 038-5. 992). In the rs2094258 locus of XPG gene,the susceptibility of individuals carrying mutant AA to lung cancer was 3. 020 times than wild type GG(OR = 3. 020,95%CI = 1. 015-8. 980). As haplotype result show,compared with GG haplotypes of rs4150441-rs4150434 loci in XPB gene,the risk of lung cancer in GA haplotype was 3. 643 times than GG haplotype(OR = 3. 643,95% CI = 1. 113-11. 921).Compared with GTC haplotypes of rs2094258-rs4771436-rs17655 loci in XPG gene,the risk of lung cancer in ATC haplotype was 3. 800 times than GTC haplotype(OR = 3. 800,95%CI = 1. 073-13. 459). CONCLUSION XPB rs4150434,XPG rs4771436,X
作者
黄奕江
蒙冲
龙文芳
刘云儒
刘玉梅
杨建军
燕贞
于德娥
肖莎
Huang Yijiang;Meng Chong;Long Wenfang;Liu Yunru;Liu Yumei;Yang Jianjun;Yan Zhen;Yu De'e;Xiao Sha(School of Public Health,Hainan Medical College,Haikou 571199,China;Department of Respiratory,Hainan General Hospital,Haikou 570311,China)
出处
《卫生研究》
CAS
CSCD
北大核心
2019年第6期919-924,共6页
Journal of Hygiene Research
基金
国家自然科学基金(No.81660550)
海南省自然科学基金(No.814292)
