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基因多态性降低中国东部儿童神经母细胞瘤风险:一项三中心病例对照研究

Gene Polymorphisms Reduce Neuroblastoma Risk in Eastern Chinese Children: A Three-Center Case-Control Study.

作者信息

He Lili, Zhu Jinhong, Han Fei, Tang Yingzi, Zhou Chunlei, Dai Jincheng, Wang Yizhen, Zhou Haixia, He Jing, Wu Haiyan

机构信息

Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Department of Clinical Laboratory, Molecular Epidemiology Laboratory, Harbin Medical University Cancer Hospital, Harbin, China.

出版信息

Front Oncol. 2018 Oct 23;8:468. doi: 10.3389/fonc.2018.00468. eCollection 2018.

Abstract

Neuroblastoma, a neuroendocrine tumor, stems from the developing sympathetic nervous system. Previous genome-wide association studies (GWASs) have discovered a number of neuroblastoma susceptibility genes in Caucasians including . We conducted a three-center case-control study including 313 cases and 716 controls with the purpose to evaluate the association between five GWAS-identified variants (rs110419 A>G, rs4758051 G>A, rs10840002 A>G, rs204938 A>G, and rs2168101 G>T) and neuroblastoma susceptibility in eastern Chinese children. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the strength of the associations. False positive report possibility (FPRP) analysis was performed to check whether significant results were noteworthy. Significant associations with neuroblastoma risk were found for four (rs110419, rs4758051, rs10840002, and rs2168101) out of the five polymorphisms. Combined analysis demonstrated that carriers of 4-5 protective genotypes had a significantly decreased risk of neuroblastoma in comparison those with 0-3 protective genotypes (adjusted OR = 0.51, 95% CI = 0.39-0.68, < 0.0001). Haplotype analysis of the five SNPs yield four significant haplotypes associated with neuroblastoma susceptibility. In conclusion, we confirmed polymorphisms may reduce neuroblastoma risk in eastern Chinese populations.

摘要

神经母细胞瘤是一种神经内分泌肿瘤,起源于发育中的交感神经系统。以往的全基因组关联研究(GWAS)已经在高加索人中发现了许多神经母细胞瘤易感基因,包括……我们开展了一项三中心病例对照研究,纳入313例病例和716例对照,旨在评估5个GWAS鉴定的变体(rs110419 A>G、rs4758051 G>A、rs10840002 A>G、rs204938 A>G和rs2168101 G>T)与中国东部儿童神经母细胞瘤易感性之间的关联。计算比值比(OR)和95%置信区间(CI)以评估关联强度。进行假阳性报告概率(FPRP)分析以检查显著结果是否值得关注。在5个多态性中,发现4个(rs110419、rs4758051、rs10840002和rs2168101)与神经母细胞瘤风险存在显著关联。联合分析表明,与具有0 - 3种保护基因型的个体相比,携带4 - 5种保护基因型的个体患神经母细胞瘤的风险显著降低(校正OR = 0.51,95% CI = 0.39 - 0.68,< 0.0001)。对这5个单核苷酸多态性(SNP)的单倍型分析产生了4个与神经母细胞瘤易感性相关的显著单倍型。总之,我们证实这些多态性可能降低中国东部人群患神经母细胞瘤的风险。

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