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Gene-environment and gene-gene interactions between CHRNA3 rs1051730, XRCC1 rs25487, and ERCC1 rs735482 variants highly elevate the risk of lung cancer
Egyptian Journal of Medical Human Genetics Pub Date : 2019-11-18 , DOI: 10.1186/s43042-019-0034-1
Nada Ezzeldin , Dalia El-Lebedy , Asmaa Mohammed

Gene-gene and gene-environment interactions play an important role in cancer susceptibility. In this work, we studied the association of XRCC1 rs25487, ERCC1 rs735482, and CHRNA3 rs1051730 variants with lung cancer and assessed the modulatory effect of potential interaction between these variants on disease risk. In this study, 86 primary lung cancer patients and 64 control subjects were genotyped for CHRNA3 rs1051730, XRCC1 rs25487, and ERCC1 rs735482 by real-time PCR. The frequency of the three studied variants was higher among lung cancer patients than in control subjects, but with no statistical significance. ERCC1 rs735482 variant was associated with 6.9-fold increased risk to develop lung cancer among smokers (p = 0.03). Concomitant presence of CHRNA3 and ERCC1 wild alleles was associated with 2.7-fold elevated risk of lung cancer (p < 0.0001), while concomitant presence of CHRNA3 rs1051730 variant allele with ERCC1 wild allele was associated with 20-fold elevated risk (p < 0.000). Concomitant presence of both variants, ERCC1 rs735482 and CHRNA3 rs1051730, was associated with 9.9-fold elevated risk (p < 0.0001). Meanwhile, the concomitant presence of XRCC1 rs25487 with either ERCC1 rs735482 or CHRNA3 rs1051730 or both was not associated with increased risk of the disease. Our results emphasize the role of gene-gene interaction in the pathogenesis of lung cancer. Large-scale further studies to clarify the underlying mechanisms are needed.

中文翻译:

CHRNA3 rs1051730、XRCC1 rs25487和ERCC1 rs735482变体之间的基因-环境和基因-基因相互作用显着增加患肺癌的风险

基因-基因和基因-环境相互作用在癌症易感性中起重要作用。在这项工作中,我们研究了 XRCC1 rs25487、ERCC1 rs735482 和 CHRNA3 rs1051730 变体与肺癌的关联,并评估了这些变体之间潜在相互作用对疾病风险的调节作用。在这项研究中,86 名原发性肺癌患者和 64 名对照受试者通过实时 PCR 对 CHRNA3 rs1051730、XRCC1 rs25487 和 ERCC1 rs735482 进行基因分型。肺癌患者中三种研究变体的频率高于对照组,但没有统计学意义。ERCC1 rs735482 变异与吸烟者患肺癌的风险增加 6.9 倍相关(p = 0.03)。CHRNA3 和 ERCC1 野生等位基因的同时存在与肺癌风险增加 2.7 倍相关(p < 0. 0001),而同时存在 CHRNA3 rs1051730 变异等位基因与 ERCC1 野生等位基因与 20 倍的风险升高有关 (p < 0.000)。ERCC1 rs735482 和 CHRNA3 rs1051730 两种变体的同时存在与风险升高 9.9 倍(p < 0.0001)相关。同时,XRCC1 rs25487 与 ERCC1 rs735482 或 CHRNA3 rs1051730 或两者同时存在与疾病风险增加无关。我们的研究结果强调了基因-基因相互作用在肺癌发病机制中的作用。需要大规模的进一步研究来阐明潜在的机制。与 9.9 倍的风险升高相关(p < 0.0001)。同时,XRCC1 rs25487 与 ERCC1 rs735482 或 CHRNA3 rs1051730 或两者同时存在与疾病风险增加无关。我们的研究结果强调了基因-基因相互作用在肺癌发病机制中的作用。需要大规模的进一步研究来阐明潜在的机制。与 9.9 倍的风险升高相关(p < 0.0001)。同时,XRCC1 rs25487 与 ERCC1 rs735482 或 CHRNA3 rs1051730 或两者同时存在与疾病风险增加无关。我们的研究结果强调了基因-基因相互作用在肺癌发病机制中的作用。需要大规模的进一步研究来阐明潜在的机制。
更新日期:2019-11-18
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