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XRCC1基因变异对中国汉族人群肺癌易感性的影响。

The influence of XRCC1 genetic variants on lung cancer susceptibility in Chinese Han population.

作者信息

Wang Yingyi, Ni Jianjiao, Sun Zhao, Chen Shuchang, Jiao Yuchen, Bai Chunmei

机构信息

Oncology Department of Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, No. 1 ShuaiFuYuan Hutong, Dongcheng District, Beijing 100730, People's Republic of China.

Peking Union Medical College, Chinese Academy of Medical Sciences, No. 5 DongDanSanTiao, Dongcheng District, Beijing 100005, People's Republic of China.

出版信息

Gene. 2015 Feb 10;556(2):127-31. doi: 10.1016/j.gene.2014.11.044. Epub 2014 Nov 27.

Abstract

Growing evidence suggests that genetic variants of X-ray repair cross-complementing group 1 proteins (XRCC1) contribute to genetic effects on the development of lung cancer. This case-control study aims to evaluate the genetic effects of XRCC1 c.482C>T and c.1686C>G single nucleotide polymorphisms (SNPs) on lung cancer susceptibility. 391 lung cancer patients and 398 cancer-free controls were enrolled in this study. The genotypes of c.482C>T and c.1686C>G genetic variants were detected by the created restriction site-polymerase chain reaction (CRS-PCR), PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods. The genetic effects on lung cancer susceptibility were evaluated using association analyses by the unconditional logistic regression model. Our data indicated that there were significant differences in the distribution of allelic and genotypic frequencies between lung cancer patients and cancer-free controls. The XRCC1 c.482C>T and c.1686C>G genetic variants were significantly associated with the susceptibility to lung cancer (for c.482C>T, TT versus (vs.) CC: OR=2.14, 95% CI 1.31-3.48, P=0.002; T vs. C: OR=1.37, 95% CI 1.10-1.69, P=0.004; for c.1686C>G, GG vs. CC: OR=2.53, 95% CI 1.46-4.38, P=0.001; G vs. C: OR=1.33, 95% CI 1.06-1.65, P=0.012). These preliminary results suggested that the XRCC1 c.482C>T and c.1686C>G genetic variants might play genetic effects on the susceptibility to lung cancer in the studied population.

摘要

越来越多的证据表明,X射线修复交叉互补基因1(XRCC1)的基因变异对肺癌的发生发展具有遗传影响。本病例对照研究旨在评估XRCC1基因c.482C>T和c.1686C>G单核苷酸多态性(SNP)对肺癌易感性的遗传效应。本研究纳入了391例肺癌患者和398例无癌对照。采用创建限制性位点聚合酶链反应(CRS-PCR)、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和DNA测序方法检测c.482C>T和c.1686C>G基因变异的基因型。采用无条件逻辑回归模型进行关联分析,评估其对肺癌易感性的遗传效应。我们的数据表明,肺癌患者与无癌对照之间的等位基因和基因型频率分布存在显著差异。XRCC1基因c.482C>T和c.1686C>G基因变异与肺癌易感性显著相关(对于c.482C>T,TT与CC相比:OR=2.14,95%CI 1.31-3.48,P=0.002;T与C相比:OR=1.37,95%CI 1.10-1.69,P=0.004;对于c.1686C>G,GG与CC相比:OR=2.53,95%CI 1.46-4.38,P=0.001;G与C相比:OR=1.33,95%CI 1.06-1.65,P=0.012)。这些初步结果表明,在研究人群中,XRCC1基因c.482C>T和c.1686C>G基因变异可能对肺癌易感性具有遗传影响。

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