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中国儿童的多态性与神经母细胞瘤风险:一项三中心病例对照研究

polymorphisms and neuroblastoma risk in Chinese children: a three-center case-control study.

作者信息

Wang Juxiang, Zhuo Zhenjian, Chen Min, Zhu Jinhong, Zhao Jie, Zhang Jiao, Chen Shanshan, He Jing, Zhou Haixia

机构信息

Department of Hematology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzho, Zhejiang 325027, China.

School of Chinese Medicine, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, China.

出版信息

Aging (Albany NY). 2018 Apr 28;10(4):808-818. doi: 10.18632/aging.101429.

Abstract

The genetic etiology of sporadic neuroblastoma remains largely obscure. and genes encode Ras-related nuclear protein and Ran-binding protein 2, respectively. These two proteins form Ran-RanBP2 complex that regulate various cellular activities including nuclear transport. Aberrant functions of the two proteins are implicated in carcinogenesis. Given the unknown role of single nucleotide polymorphisms (SNPs) in neuroblastoma risk, we performed a multi-center case-control study in Chinese children to assess the association of the SNPs with neuroblastoma risk. We analyzed three potentially functional SNPs in gene (rs56109543 C>T, rs7132224 A>G, rs14035 C>T) and one in (rs2462788 C>T) in 429 cases and 884 controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to access the association between these four polymorphisms and neuroblastoma risk. No single variant was found to statistically significantly associate with neuroblastoma risk. However, individuals with 3 protective genotypes were less likely to develop neuroblastoma, in comparison to non-carriers (adjusted OR=0.33; 95% CI=0.12-0.96; =0.042), as well as those with 0-2 protective genotypes (adjusted OR=0.33; 95% CI=0.11-0.94; =0.038). Stratified analysis revealed no significant association for any of the four polymorphisms. Further studies are warranted to validate the weak impact of SNPs on neuroblastoma risk.

摘要

散发性神经母细胞瘤的遗传病因在很大程度上仍不清楚。[具体基因名称1]和[具体基因名称2]基因分别编码Ras相关核蛋白和Ran结合蛋白2。这两种蛋白形成Ran-RanBP2复合物,调节包括核转运在内的各种细胞活动。这两种蛋白的异常功能与肿瘤发生有关。鉴于单核苷酸多态性(SNP)在神经母细胞瘤风险中的作用尚不清楚,我们在中国儿童中进行了一项多中心病例对照研究,以评估这些SNP与神经母细胞瘤风险的关联。我们在429例病例和884例对照中分析了[具体基因名称1]基因中的三个潜在功能性SNP(rs56109543 C>T、rs7132224 A>G、rs14035 C>T)和[具体基因名称2]中的一个(rs2462788 C>T)。比值比(OR)和95%置信区间(CI)用于评估这四种多态性与神经母细胞瘤风险之间的关联。未发现单一变异与神经母细胞瘤风险有统计学显著关联。然而,与无保护基因型个体相比,具有3种保护基因型的个体患神经母细胞瘤的可能性较小(调整后OR=0.33;95%CI=0.12-0.96;P=0.042),与具有0-2种保护基因型的个体相比也是如此(调整后OR=0.33;95%CI=0.11-0.94;P=0.038)。分层分析显示,这四种多态性中的任何一种均无显著关联。有必要进一步研究以验证SNP对神经母细胞瘤风险的微弱影响。

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