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中国人群中核苷酸切除修复(NER)途径基因多态性与喉癌易感性的关联

Association of NER pathway gene polymorphisms with susceptibility to laryngeal cancer in a Chinese population.

作者信息

Sun Yanan, Tan Lijun, Li Huijun, Qin Xiaowei, Liu Jiangtao

机构信息

Department of Otorhinolaryngology, The First Affiliated Hospital of Harbin Medical University Harbin 150001, China.

Department of Medical Oncology, The First Affiliated Hospital of Harbin Medical University Harbin 150001, China.

出版信息

Int J Clin Exp Pathol. 2015 Sep 1;8(9):11615-21. eCollection 2015.

Abstract

We systematically analyzed the association of nine SNPs of seven key NER pathway genes with the development of laryngeal cancer patients, and investigated whether NER pathway polymorphisms could serve as potential biomarkers for laryngeal cancer risk. 271 patients with pathologically proven laryngeal cancer and 271 control subjects were included in our study. Genotyping of ERCC1 rs11615 and rs2298881, ERCC2 rs13181 and rs50871, ERCC3 rs4150441, ERCC4 rs6498486, ERCC5 rs2094258, XPA rs2808668 and XPC rs2228001 were analyzed by polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP). By conditional logistic regression analysis, individuals carrying the TT genotype of ERCC1 rs11615 were correlated with an increased risk of larynx cancer when compared with the CC genotype (OR=1.89, 95% CI=1.07-3.37; P value=0.02). Moreover, individuals with the GG genotype of ERCC2 rs50871 were associated with an elevated risk of larynx cancer when compare with the TT genotype (OR=2.03, 95% CI=1.15-3.63; P value=0.01). We found a significant interaction between ERCC2 rs50871 polymorphism and tobacco smoking in the risk of larynx cancer (P for interaction <0.05). In conclusion, our study showed that ERCC1 rs11615 and ERCC2 rs50871 polymorphisms could influence the risk of larynx cancer in Chinese population, particularly among smokers.

摘要

我们系统地分析了7个关键核苷酸切除修复(NER)通路基因的9个单核苷酸多态性(SNP)与喉癌患者发病的相关性,并研究了NER通路多态性是否可作为喉癌风险的潜在生物标志物。我们的研究纳入了271例经病理证实的喉癌患者和271例对照受试者。通过聚合酶链反应(PCR)结合限制性片段长度多态性(RFLP)分析了ERCC1基因的rs11615和rs2298881、ERCC2基因的rs13181和rs50871、ERCC3基因的rs4150441、ERCC4基因的rs6498486、ERCC5基因的rs2094258、XPA基因的rs2808668以及XPC基因的rs2228001的基因分型。通过条件逻辑回归分析,与CC基因型相比,携带ERCC1基因rs11615的TT基因型个体患喉癌的风险增加(比值比[OR]=1.89,95%可信区间[CI]=1.07 - 3.37;P值=0.02)。此外,与TT基因型相比,携带ERCC2基因rs50871的GG基因型个体患喉癌的风险升高(OR=2.03,95%CI=1.15 - 3.63;P值=0.01)。我们发现ERCC2基因rs50871多态性与吸烟在喉癌风险方面存在显著交互作用(交互作用P值<0.05)。总之,我们的研究表明,ERCC1基因rs11615和ERCC2基因rs50871多态性可能会影响中国人群尤其是吸烟者患喉癌的风险。

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