Zhou Chunlei, Wang Yizhen, He Lili, Zhu Jinhong, Li Jinghang, Tang Yingzi, Zhou Haixia, He Jing, Wu Haiyan
Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China.
Department of Pathology, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China.
Mol Ther Oncolytics. 2020 Dec 19;20:3-11. doi: 10.1016/j.omto.2020.12.004. eCollection 2021 Mar 26.
Neuroblastoma is a common childhood malignancy. Nucleotide excision repair (NER) polymorphisms have been shown to influence cancer susceptibility by modifying DNA repair efficiency. To investigate the association of NER gene polymorphisms with neuroblastoma risk, we constructed a three-center case-control study. A total of 19 candidate single-nucleotide polymorphisms (SNPs) in NER genes were analyzed. Odds ratios (ORs) and 95% confidential intervals (CIs) were calculated to evaluate the associations. We identified five independent SNPs that were significantly associated with neuroblastoma risk, including rs1800975 (dominant model: adjusted OR = 0.73, 95% CI = 0.55-0.98, p = 0.033), rs3176752 (recessive model: adjusted OR = 2.78, 95% CI = 1.12-6.91, p = 0.028), rs3810366 (dominant: adjusted OR = 1.44, 95% CI = 1.05-1.97, p = 0.022; recessive: adjusted OR = 1.58, 95% CI = 1.18-2.11, p = 0.002), rs238406 (dominant: adjusted OR = 0.64, 95% CI = 0.48-0.84, p = 0.002; recessive: adjusted OR = 0.67, 95% CI = 0.48-0.94, p = 0.021), and rs2094258 (recessive: adjusted OR = 1.44, 95% CI = 1.03-2.04, p = 0.036). Stratified analysis was carried out. Furthermore, these findings were strengthened by false-positive report probability (FPRP) analysis and expression quantitative trait loci (eQTL) analysis. In conclusion, our study indicates that five SNPs in NER genes are correlated with neuroblastoma susceptibility in the eastern Chinese population, providing novel insight into the genetic underpinnings of neuroblastoma. However, further large-scale studies are required to verify these findings.
神经母细胞瘤是一种常见的儿童恶性肿瘤。核苷酸切除修复（NER）基因多态性已被证明可通过改变DNA修复效率来影响癌症易感性。为了研究NER基因多态性与神经母细胞瘤风险的关联，我们开展了一项三中心病例对照研究。共分析了NER基因中的19个候选单核苷酸多态性（SNP）。计算优势比（OR）和95%置信区间（CI）以评估关联。我们鉴定出5个与神经母细胞瘤风险显著相关的独立SNP，包括rs1800975（显性模型：校正OR = 0.73，95% CI = 0.55 - 0.98，p = 0.033）、rs3176752（隐性模型：校正OR = 2.78，95% CI = 1.12 - 6.91，p = 0.028）、rs3810366（显性：校正OR = 1.44，95% CI = 1.05 - 1.97，p = 0.022；隐性：校正OR = 1.58，95% CI = 1.18 - 2.11，p = 0.002）、rs238406（显性：校正OR = 0.64，95% CI = 0.48 - 0.84，p = 0.002；隐性：校正OR = 0.67，95% CI = 0.48 - 0.94，p = 0.021）和rs2094258（隐性：校正OR = 1.44，95% CI = 1.03 - 2.04，p = 0.036）。进行了分层分析。此外，这些发现通过假阳性报告概率（FPRP）分析和表达定量性状位点（eQTL）分析得到了加强。总之，我们的研究表明，NER基因中的5个SNP与中国东部人群的神经母细胞瘤易感性相关，为神经母细胞瘤的遗传基础提供了新的见解。然而，需要进一步的大规模研究来验证这些发现。
