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RTN4 3'-UTR 基因变异与宫颈鳞状细胞癌易感性的关系。

Genetic variation in RTN4 3'-UTR and susceptibility to cervical squamous cell carcinoma.

机构信息

Department of Immunology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, PR China.

出版信息

DNA Cell Biol. 2012 Jun;31(6):1088-94. doi: 10.1089/dna.2011.1548. Epub 2012 Feb 9.

DOI:10.1089/dna.2011.1548
PMID:22320844
Abstract

Recent studies have suggested that RTN4 is a multifunctional gene, including inhibition of axonal regeneration, vascular remodeling, apoptosis, and tumor suppression. The TATC and CAA insertion/deletion polymorphisms of RTN4 3'-UTR have been linked to schizophrenia, depression, and dilated cardiomyopathy. To test whether these two polymorphisms are associated with cervical squamous cell carcinoma (CSCC), in this research, by using polymerase chain reaction-polyacrylamide gel electrophoresis, we determined the genotypes of the TATC and CAA polymorphisms in 336 CSCC patients and 450 unrelated control subjects. Allele frequencies of TATC and CAA polymorphisms were not significantly different between CSCC patients and control subjects (odds ratio [OR]=1.22, 95% confidence interval [CI]=0.98-1.50 for TATC; OR=0.95, 95% CI=0.76-1.18 for CAA). Decreased CSCC risk was associated with TATC polymorphism in a recessive model (OR=0.49, 95% CI=0.30-0.77), while no significant association was observed between CAA polymorphism and CSCC in different genetic models. Results of stratified analysis revealed that both TATC and CAA polymorphisms were associated with high clinical stage, and CAA polymorphism was also associated with positive parametrial invasion (OR=0.69, 95% CI=0.48-0.98). The present study provides evidence that TATC and CAA insertion/deletion polymorphisms are associated with CSCC, indicating that genetic variation in RTN4 3'-UTR contributes to the susceptibility to CSCC. It is necessary to confirm these findings in ethnically different populations and with a larger sample.

摘要

最近的研究表明,RTN4 是一个多功能基因,包括抑制轴突再生、血管重塑、细胞凋亡和肿瘤抑制。RTN4 3'-UTR 的 TATC 和 CAA 插入/缺失多态性与精神分裂症、抑郁症和扩张型心肌病有关。为了检验这两种多态性是否与宫颈鳞状细胞癌(CSCC)有关,在这项研究中,我们通过聚合酶链反应-聚丙烯酰胺凝胶电泳,确定了 336 例 CSCC 患者和 450 例无关对照者 TATC 和 CAA 多态性的基因型。TATC 和 CAA 多态性的等位基因频率在 CSCC 患者和对照组之间没有显著差异(TATC 的比值比[OR]=1.22,95%置信区间[CI]=0.98-1.50;CAA 的 OR=0.95,95% CI=0.76-1.18)。TATC 多态性的隐性模型与 CSCC 风险降低相关(OR=0.49,95% CI=0.30-0.77),而 CAA 多态性与不同遗传模型的 CSCC 之间没有显著关联。分层分析的结果表明,TATC 和 CAA 多态性均与高临床分期相关,CAA 多态性也与阳性宫旁浸润相关(OR=0.69,95% CI=0.48-0.98)。本研究提供的证据表明,TATC 和 CAA 插入/缺失多态性与 CSCC 相关,表明 RTN4 3'-UTR 的遗传变异与 CSCC 的易感性有关。有必要在不同种族人群和更大样本中证实这些发现。

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