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ERCC1 基因多态性(rs3212986 和 rs11615)与伊朗东南部人群肺癌风险的关联。

Association of ERCC1 Gene Polymorphisms (rs3212986 and rs11615) With the Risk of Lung Cancer in a Population From Southeast Iran.

发表日期:2024 Sep 30
作者: Ali Khalouei, Yaser Masoumi-Ardakani, Abdollah Jafarzaheh, Behjat Kalantari Khandani, Farnaz Sedghy, Arezu Khosravi Mashizi, Mohammad Mehdi Yaghoobi, Mohammadreza Zangouey, Beydolah Shahouzehi
来源: Environmental Technology & Innovation

摘要:

切除修复交叉互补组 1 (ERCC1) 内的多态性是 DNA 修复机制的重要组成部分,与多种恶性肿瘤有关。本研究旨在评估非小细胞肺癌 (NSCLC) 患者 ERCC1 基因内单核苷酸多态性 (SNP) rs3212986 和 rs11615 的关联。研究设计:病例对照研究。从 83 名 NSCLC 患者和 119 名健康个体的外周血样本中提取基因组 DNA。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法测定SNP rs3212986和rs11615的遗传多样性。 RFLP结果通过测序得到证实。rs11615 SNP的TT基因型与NSCLC发展风险较高相关(比值比:3.900,95%置信区间:0.603、22.866,P=0.050)。此外,rs3212986的AA基因型与NSCLC发展风险较高相关(OR:2.531,95%CI:1.017、6.300,P=0.046)。吸烟与肺癌之间存在显着关联(OR:3.072,95% CI:1.715、5.503,P<0.001)。此外,在非吸烟者中,肺癌风险与 AA(OR:6.825,95% CI:1.722、27.044,P=0.006)和 AC(OR:2.503,95% CI:0.977、6.412、 P=0.056)rs3212986 的基因型。然而,未发现这些SNP的基因型与患者对顺铂和卡铂的敏感性之间存在相关性(P˃0.05)。rs11615相关的TT基因型和rs3212986相关的AA基因型可能与较高的肺癌发生风险相关.© 2024 作者;由哈马丹医科大学出版。这是一篇根据知识共享署名许可证 (https://creativecommons.org/licenses/by/4.0/) 条款分发的开放获取文章,允许在任何媒体上不受限制地使用、分发和复制,前提是提供原始内容工作被正确引用。
Polymorphisms within the excision repair cross-complementation group 1 (ERCC1), an essential component of DNA repair mechanisms, have been associated with various malignancies. This study aimed to evaluate the association of the single-nucleotide polymorphisms (SNPs) rs3212986 and rs11615 within the ERCC1 gene in non-small cell lung cancer (NSCLC) patients. Study Design: A case-control study.Genomic DNA was extracted from the peripheral blood samples of 83 NSCLC patients and 119 healthy individuals. The genetic diversity of SNPs rs3212986 and rs11615 was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The RFLP results were confirmed through sequencing.The TT genotype of the rs11615 SNP was associated with a higher risk of NSCLC development (odds ratio: 3.900, 95% confidence interval: 0.603, 22.866, P=0.050). Furthermore, the AA genotype of rs3212986 was related to a higher risk of NSCLC development (OR: 2.531, 95% CI: 1.017, 6.300, P=0.046). A significant association was observed between smoking and lung cancer (OR: 3.072, 95% CI: 1.715, 5.503, P<0.001). Moreover, among non-smokers, there was an association between lung cancer risk and the AA (OR: 6.825, 95% CI: 1.722, 27.044, P=0.006) and AC (OR: 2.503, 95% CI: 0.977, 6.412, P=0.056) genotypes of rs3212986. However, no correlation was found between the genotypes of these SNPs and patients' sensitivity to cisplatin and carboplatin (P ˃ 0.05).The rs11615-related TT genotype and the rs3212986-related AA genotype may be associated with a higher risk of lung cancer development.© 2024 The Author(s); Published by Hamadan University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.