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TP53 Arg72Pro 多态性与中国东部儿童神经母细胞瘤易感性的相关性:一项三中心病例对照研究。

TP53 Arg72Pro polymorphism and neuroblastoma susceptibility in eastern Chinese children: a three-center case-control study.

机构信息

Department of Pathology, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China.

Clinical Laboratory, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China.

出版信息

Biosci Rep. 2020 May 29;40(5). doi: 10.1042/BSR20200854.

Abstract

TP53 is a tumor suppressor gene that regulates cell growth, apoptosis and DNA repair. Previous studies have reported the contribution of TP53 Arg72Pro (rs1042522 C>G) polymorphism to pathogenesis of multiple tumors. Hence, we evaluated the association between this polymorphism and neuroblastoma susceptibility in eastern Chinese children. The Taqman genotyping assay was performed in 373 patients and 762 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association. No significant association was found between the TP53 gene rs1042522 C>G polymorphism and neuroblastoma susceptibility in the overall analysis (CG vs. CC: adjusted OR = 0.92, 95% CI = 0.70-1.22, P=0.567; GG vs. CC: adjusted OR = 0.99, 95% CI = 0.69-1.42, P=0.947; CG/GG vs. CC: adjusted OR = 0.94, 95% CI = 0.72-1.23, P=0.639; or GG vs. CC/CG: adjusted OR = 1.04, 95% CI = 0.75-1.43, P=0.814) and stratified analysis by age, gender, sites of origin, and clinical stages. The TP53 gene rs1042522 C>G polymorphism may not be a risk factor for neuroblastoma in eastern Chinese children. Future studies are needed to confirm this negative result and to reveal additional functional TP53 variants predisposing to neuroblastoma.

摘要

TP53 是一种肿瘤抑制基因,可调节细胞生长、凋亡和 DNA 修复。先前的研究报告称,TP53 Arg72Pro(rs1042522 C>G)多态性与多种肿瘤的发病机制有关。因此,我们评估了这种多态性与中国东部儿童神经母细胞瘤易感性之间的关系。采用 Taqman 基因分型检测法对 373 例患者和 762 例对照进行检测。计算比值比(OR)及其 95%置信区间(CI)来评估关联强度。在总分析中,未发现 TP53 基因 rs1042522 C>G 多态性与神经母细胞瘤易感性之间存在显著关联(CG 与 CC:调整 OR = 0.92,95%CI = 0.70-1.22,P=0.567;GG 与 CC:调整 OR = 0.99,95%CI = 0.69-1.42,P=0.947;CG/GG 与 CC:调整 OR = 0.94,95%CI = 0.72-1.23,P=0.639;或 GG 与 CC/CG:调整 OR = 1.04,95%CI = 0.75-1.43,P=0.814),且按年龄、性别、起源部位和临床分期进行分层分析后也得到了相似的结果。TP53 基因 rs1042522 C>G 多态性可能不是中国东部儿童神经母细胞瘤的危险因素。需要进一步的研究来证实这一阴性结果,并揭示导致神经母细胞瘤发生的其他功能性 TP53 变异。

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Neuroblastoma.神经母细胞瘤。
Nat Rev Dis Primers. 2016 Nov 10;2:16078. doi: 10.1038/nrdp.2016.78.

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