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非小细胞肺癌中生存素基因多态性与表皮生长因子受体突变之间的关联

Association between survivin genetic polymorphisms and epidermal growth factor receptor mutation in non-small-cell lung cancer.

作者信息

Liu Tu-Chen, Hsieh Ming-Ju, Wu Wen-Jun, Chou Ying-Erh, Chiang Whei-Ling, Yang Shun-Fa, Su Shih-Chi, Tsao Thomas Chang-Yao

机构信息

Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.; Department of Chest Medicine, Cheng-Ching General Hospital, Taichung, Taiwan.

Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.; Cancer Research Center, Changhua Christian Hospital, Changhua, Taiwan.; Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan.

出版信息

Int J Med Sci. 2016 Nov 23;13(12):929-935. doi: 10.7150/ijms.16875. eCollection 2016.

Abstract

Survivin is an anti-apoptotic protein that is implicated in the regulation of apoptosis and cell cycle in various types of cancers. The current study explored the effect of gene polymorphisms and EGFR mutations in non-small-cell lung carcinoma (NSCLC) patients. A total of 360 participants, including 291 adenocarcinoma lung cancer and 69 squamous cell carcinoma lung cancer patients, were selected for the analysis of three genetic variants ( -31, +9194, and +9809) by using real-time PCR genotyping. The results indicated that GC+CC genotypes of -31 were significant association with EGFR mutation in lung adenocarcinoma patients (adjusted odds ratio=3.498, 95% CI = 1.171-10.448; p<0.01). Moreover, The GC+CC genotypes of -31 were associated with EGFR L858R mutation but not in exon 19 in-frame deletions. Furthermore, among patients in exon 19 in-frame deletions, those who have at least one polymorphic G allele of -31 have an increased incidence to develop late-stage when compared with those patients homozygous for C/C (OR, 4.800; 95% CI, 1.305-17.658). In conclusion, our results showed that genetic variants were related to EGFR mutation in lung adenocarcinoma patients and might contribute to pathological development to NSCLC.

摘要

生存素是一种抗凋亡蛋白,与多种癌症的细胞凋亡和细胞周期调控有关。本研究探讨了非小细胞肺癌(NSCLC)患者基因多态性和表皮生长因子受体(EGFR)突变的影响。通过实时聚合酶链反应基因分型,共选取了360名参与者,包括291例肺腺癌患者和69例肺鳞状细胞癌患者,对三个基因变体(-31、+9194和+9809)进行分析。结果表明,-31位点的GC+CC基因型与肺腺癌患者的EGFR突变显著相关(校正比值比=3.498,95%置信区间=1.171-10.448;p<0.01)。此外,-31位点的GC+CC基因型与EGFR L858R突变相关,但与外显子19框内缺失无关。此外,在外显子19框内缺失的患者中,与C/C纯合子患者相比,至少有一个-31多态性G等位基因的患者发生晚期的几率增加(比值比,4.800;95%置信区间,1.305-17.658)。总之,我们的结果表明,基因变体与肺腺癌患者的EGFR突变有关,可能有助于非小细胞肺癌的病理发展。

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