江苏省中国儿童的基因多态性与神经母细胞瘤风险
gene polymorphisms and risk of neuroblastoma in Chinese children from Jiangsu Province.
作者信息
Guan Qian, Zhang Xinxin, Liu Jiabin, Zhou Chunlei, Zhu Jinhong, Wu Haiyan, Zhuo Zhenjian, He Jing
机构信息
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou Guangdong China.
Department of Pathology Children's Hospital of Nanjing Medical University Nanjing Jiangsu China.
出版信息
Cancer Innov. 2023 Dec 22;3(2):e103. doi: 10.1002/cai2.103. eCollection 2024 Apr.
BACKGROUND
Neuroblastoma is one of the most common extracranial malignant solid tumors in children. AlkB homolog 5 (ALKBH5) is an RNA N6-methyladenosine (m6A) demethylase that plays a critical role in tumorigenesis and development. We assessed the association between single nucleotide polymorphisms (SNPs) in and the risk of neuroblastoma in a case-control study including 402 patients and 473 non-cancer controls.
METHODS
Genotyping was determined by the TaqMan method. The association between polymorphisms (rs1378602 and rs8400) and the risk of neuroblastoma was evaluated using the odds ratio (OR) and 95% confidence interval (CI).
RESULTS
We found no strong association of rs1378602 and rs8400 with neuroblastoma risk. Further stratification analysis by age, sex, primary site, and clinical stage showed that the rs1378602 AG/AA genotype was associated with a lower risk of neuroblastoma in males (adjusted OR = 0.58, 95% CI = 0.35-0.97, = 0.036) and children with retroperitoneal neuroblastoma (adjusted OR = 0.58, 95% CI = 0.34-0.98, = 0.040).
CONCLUSIONS
SNPs do not seem to be associated with neuroblastoma risk. More studies are required to confirm this negative result and reveal the relationship between gene polymorphisms of the m6A modifier and neuroblastoma.
背景
神经母细胞瘤是儿童最常见的颅外恶性实体瘤之一。AlkB同源物5（ALKBH5）是一种RNA N6-甲基腺苷（m6A）去甲基化酶，在肿瘤发生和发展中起关键作用。在一项纳入402例患者和473名非癌症对照的病例对照研究中，我们评估了ALKBH5单核苷酸多态性（SNP）与神经母细胞瘤风险之间的关联。
方法
采用TaqMan方法进行基因分型。使用比值比（OR）和95%置信区间（CI）评估ALKBH5多态性（rs1378602和rs8400）与神经母细胞瘤风险之间的关联。
结果
我们发现ALKBH5的rs1378602和rs8400与神经母细胞瘤风险无强关联。按年龄、性别、原发部位和临床分期进行的进一步分层分析显示，rs1378602的AG/AA基因型与男性神经母细胞瘤风险较低相关（校正OR = 0.58，95%CI = 0.35 - 0.97，P = 0.036），以及与腹膜后神经母细胞瘤患儿风险较低相关（校正OR = 0.58，95%CI = 0.34 - 0.98，P = 0.040）。
结论
SNP似乎与神经母细胞瘤风险无关。需要更多研究来证实这一阴性结果，并揭示m6A修饰因子ALKBH5的基因多态性与神经母细胞瘤之间的关系。
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