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血管内皮生长因子(VEGF)基因启动子区域单核苷酸多态性与肾细胞癌风险的关联

Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma.

作者信息

Ajaz Sadia, Khaliq Shagufta, Abid Aiysha, Hassan Asad Shehzad, Hashmi Altaf, Sultan Gauhar, Mohsin Rehan, Mubarrak Mohammad, Naqvi Syed Ali Anwar, Rizvi Syed Adib-ul-Hasan, Mehdi Syed Qasim

机构信息

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.

出版信息

Genet Test Mol Biomarkers. 2011 Sep;15(9):653-7. doi: 10.1089/gtmb.2011.0029. Epub 2011 Apr 14.

Abstract

AIMS

Vascular endothelial growth factor (VEGF) protein plays an important role in tumor development and progression. Polymorphisms in the VEGF gene may lead to over- or underexpression of the protein and may be associated with either risk or progression of malignancy. The aim of this case-control study is to identify and quantify the correlation between VEGF polymorphisms and renal cell carcinoma (RCC).

RESULTS

Restriction fragment length polymorphism methods were used for the analysis of VEGF polymorphisms at -2578 and +936 positions in the promoter and 3'-untranslated regions, respectively. The VEGF -2578 A-allele was associated with an increased risk of RCC (odds ratio: 1.6; 95% CI: 1.2-2.3) and A-carrier genotypes were strongly correlated (odds ratio: 2.7; 95% CI: 1.5-4.7) with higher risk. Comparison of VEGF +936 C/T polymorphism between patient and control groups revealed no association with renal carcinoma. Both VEGF -2578 C/A and VEGF +936 C/T polymorphisms showed no significant association with the histopathological parameters of RCC.

CONCLUSIONS

This study shows that VEGF -2578 A-allele and A-carrier genotypes are associated with an increased risk of RCC. In groups with higher incidence of RCC, a screening test for this polymorphism may be recommended in conjunction with other established markers.

摘要

目的

血管内皮生长因子(VEGF)蛋白在肿瘤发生和发展中起重要作用。VEGF基因多态性可能导致该蛋白表达过度或不足,并可能与恶性肿瘤的风险或进展相关。本病例对照研究的目的是确定并量化VEGF多态性与肾细胞癌(RCC)之间的相关性。

结果

分别采用限制性片段长度多态性方法分析启动子区-2578位点和3'-非翻译区+936位点的VEGF多态性。VEGF -2578 A等位基因与RCC风险增加相关(比值比:1.6;95%置信区间:1.2 - 2.3),且A携带者基因型与更高风险密切相关(比值比:2.7;95%置信区间:1.5 - 4.7)。患者组与对照组之间VEGF +936 C/T多态性的比较显示与肾癌无关联。VEGF -2578 C/A和VEGF +936 C/T多态性均与RCC的组织病理学参数无显著关联。

结论

本研究表明VEGF -2578 A等位基因和A携带者基因型与RCC风险增加相关。在RCC发病率较高的人群中,可能建议结合其他已确立的标志物对该多态性进行筛查检测。

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