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首页> 外文期刊>Journal of Translational Medicine >Haplotype of gene Nedd4 binding protein 2 associated with sporadic nasopharyngeal carcinoma in the Southern Chinese population
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Haplotype of gene Nedd4 binding protein 2 associated with sporadic nasopharyngeal carcinoma in the Southern Chinese population

机译：中国南方人群散发性鼻咽癌相关基因Nedd4结合蛋白2的单倍型

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Background Bcl-3 as an oncoprotein is overexpressed in nasopharyngeal carcinoma (NPC). Nedd4 binding protein 2 (N4BP2), which is located in the NPC susceptibility locus, is a Bcl-3 binding protein. This study is aimed to explore the association between N4BP2 genetic polymorphism and the risk of NPC. Methods We performed a hospital-based case-control study, including 531 sporadic NPC and 480 cancer-free control subjects from southern China. PCR-sequencing was carried out on Exons, promoter region and nearby introns of the N4BP2 gene. The expression pattern of N4BP2 and Bcl-3 was also analyzed. Results We observed a statistically significant difference in haplotype blocks ATTA and GTTG between cases and controls. In addition, three novel SNPs were identified, two of which were in exons (loc123-e3l-snp2, position 39868005, A/G, Met171Val; RS17511668-SNP2, position 39926432, G/A, Glu118Lys), and one was in the intron6 (RS794001-SNP1, position 39944127, T/G). Moreover, N4BP2 was at higher levels in a majority of tumor tissues examined, relative to paired normal tissues. Conclusion These data suggest that haplotype blocks ATTA and GTTG of N4BP2 is correlation with the risk of sporadic nasopharyngeal carcinoma in the Southern Chinese population and N4BP2 has a potential role in the development of NPC.
机译：背景Bcl-3作为癌蛋白在鼻咽癌（NPC）中过表达。位于NPC易感性基因座的Nedd4结合蛋白2（N4BP2）是一种Bcl-3结合蛋白。这项研究旨在探讨N4BP2基因多态性与NPC风险之间的关联。方法我们进行了一项基于医院的病例对照研究，包括来自中国南方的531例散发性NPC和480例无癌对照者。在N4BP2基因的外显子，启动子区域和附近的内含子上进行PCR测序。还分析了N4BP2和Bcl-3的表达模式。结果我们观察到病例与对照之间的单倍型阻断剂ATTA和GTTG的统计学差异显着。此外，鉴定出三个新的SNP，其中两个位于外显子中（loc123-e31-snp2，位置39868005，A / G，Met171Val; RS17511668-SNP2，位置39926432，G / A，Glu118Lys），一个位于intron6（RS794001-SNP1，位置39944127，T / G）。此外，相对于配对的正常组织，N4BP2在大多数检查的肿瘤组织中含量较高。结论这些数据表明，N4BP2的单倍型阻滞ATTA和GTTG与中国南方人群散发性鼻咽癌的风险相关，N4BP2在鼻咽癌的发生中具有潜在作用。

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