Chang Xiaofeng, Zhu Jinhong, Zhou Chunlei, Yang Wei, Zhang Mengzhen, Chang Jiaming, Liu Jiabin, He Jing, Wang Huanmin
Department of Surgical Oncology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Department of Clinical Laboratory, Biobank, Harbin Medical University Cancer Hospital, Harbin, China.
Transl Pediatr. 2025 May 30;14(5):984-991. doi: 10.21037/tp-2024-611. Epub 2025 May 26.
Neuroblastoma is the predominant extracranial solid tumor occurring in children, and genetic factors like genetic polymorphism play a crucial role in its etiology. In this study, we investigated the associations between three polymorphisms (rs11994014 G>A, rs2979704 T>C, and rs1059111 A>T) and neuroblastoma susceptibility in a cohort of 402 neuroblastoma patients and 473 controls from Jiangsu Province.
Genotyping was determined using the TaqMan method. Genotype distributions between cases and controls were assessed via both univariate and multivariate logistic regression models to assess the associations between polymorphisms and neuroblastoma risk. Stratified analyses were performed based on age, sex, clinical stage, and site of origin to explore potential effect modifications and subgroup-specific associations.
In the overall analysis, no significant associations were found between any of the three polymorphisms and neuroblastoma risk. When subjects were grouped on the basis of the number of risk genotypes, no significant alteration in susceptibility was observed in children carrying three risk genotypes compared with controls carrying fewer risk genotypes. Stratified analyses based on age, sex, clinical stage, and site of origin also revealed no significant results.
Our findings suggest that polymorphisms do not significantly modify neuroblastoma susceptibility in this population, suggesting that the previously reported neuroblastoma susceptibility loci in in Caucasians may not be consistent across different populations. Further research, including larger, more diverse cohorts, is necessary to clarify the potential role of and other genetic factors in neuroblastoma etiology.
神经母细胞瘤是儿童中主要的颅外实体瘤，遗传多态性等遗传因素在其病因中起关键作用。在本研究中，我们调查了江苏省402例神经母细胞瘤患者和473例对照组成的队列中三种多态性（rs11994014 G>A、rs2979704 T>C和rs1059111 A>T）与神经母细胞瘤易感性之间的关联。
采用TaqMan方法进行基因分型。通过单变量和多变量逻辑回归模型评估病例组和对照组之间的基因型分布，以评估多态性与神经母细胞瘤风险之间的关联。根据年龄、性别、临床分期和起源部位进行分层分析，以探索潜在的效应修饰和亚组特异性关联。
在总体分析中，未发现三种多态性中的任何一种与神经母细胞瘤风险之间存在显著关联。当根据风险基因型数量对受试者进行分组时，与携带较少风险基因型的对照组相比，携带三种风险基因型的儿童在易感性方面未观察到显著变化。基于年龄、性别、临床分期和起源部位的分层分析也未得出显著结果。
我们的研究结果表明，多态性在该人群中不会显著改变神经母细胞瘤易感性，这表明先前报道的白种人中的神经母细胞瘤易感位点在不同人群中可能不一致。需要进一步的研究，包括更大、更多样化的队列，以阐明多态性和其他遗传因素在神经母细胞瘤病因中的潜在作用。
