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长五聚体蛋白3基因的功能性遗传变异与男性口腔癌患者的临床特征相关。

Functional Genetic Variant of Long Pentraxin 3 Gene Is Associated With Clinical Aspects of Oral Cancer in Male Patients.

作者信息

Yeh Chia-Ming, Lin Chiao-Wen, Chuang Chun-Yi, Liu Yu-Fan, Chou Chia-Hsuan, Yang Shun-Fa, Chen Mu-Kuan

机构信息

Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Cancer Research Center, Changhua Christian Hospital, Changhua, Taiwan.

出版信息

Front Oncol. 2019 Jul 3;9:581. doi: 10.3389/fonc.2019.00581. eCollection 2019.

Abstract

Long pentraxin 3 (PTX3) is produced by various cell types and is correlated with tumor progression in various tumor types. However, the clinical significance of polymorphisms in oral cancer and their correlation with the risk of cancer are still unclear. In this study, we assessed the influence of gene polymorphisms and environmental factors on susceptibility to oral tumorigenesis. We recruited 865 cases with oral cancer and 1,189 controls. Four single-nucleotide variations of the gene (rs1840680, rs2305619, rs3816527, and rs2120243) were verified using a real-time polymerase chain reaction in control participants and cases with oral cancer. We found that rs3816527 in smokers was correlated with the development of late-stage cancer (odds ratio [OR], 2.328; 95% confidence interval [CI], 1.078-5.027) and increased lymph node metastasis (OR, 2.152; 95% CI, 1.047-4.422). Moreover, additional bioinformatics analysis results showed that the rs3816527 C allele variant to the A allele exhibited the strongest exonic splicing enhancer activity. In conclusion, our results suggested that rs3816527 plays a role in oral cancer development.

摘要

长链五聚体蛋白3(PTX3)由多种细胞类型产生,与多种肿瘤类型的肿瘤进展相关。然而,口腔癌中基因多态性的临床意义及其与癌症风险的相关性仍不清楚。在本研究中,我们评估了基因多态性和环境因素对口腔肿瘤发生易感性的影响。我们招募了865例口腔癌患者和1189名对照。使用实时聚合酶链反应在对照参与者和口腔癌患者中验证了该基因的四个单核苷酸变异(rs1840680、rs2305619、rs3816527和rs2120243)。我们发现,吸烟者中的rs3816527与晚期癌症的发生相关(优势比[OR],2.328;95%置信区间[CI],1.078 - 5.027),并增加了淋巴结转移(OR,2.152;95%CI,1.047 - 4.422)。此外,额外的生物信息学分析结果表明,rs3816527从C等位基因变体到A等位基因表现出最强的外显子剪接增强子活性。总之,我们的结果表明rs3816527在口腔癌发展中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/23dd/6616059/a5ef50f775cf/fonc-09-00581-g0001.jpg

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