c>多态性降低中国儿童神经母细胞瘤易感性

IF 3 3区医学 Q1 PEDIATRICS European Journal of Pediatrics Pub Date : 2024-12-24 DOI:10.1007/s00431-024-05942-4

Ting Zhang, Huimin Yin, Jiejie Guo, Jiaming Chang, Mengjia Li, Jing He, Chunlei Zhou

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引用次数: 0

摘要

神经母细胞瘤是一种起源于神经嵴细胞的恶性肿瘤，最常见于儿童和青少年。长链非编码RNA (lncRNA) HOXA远端转录反义RNA （HOTTIP）内的多态性被认为具有改变个体对各种癌症易感性的能力。本研究旨在探讨HOTTIP基因多态性与神经母细胞瘤易感性之间的关系。研究人员通过TaqMan分析确定了HOTTIP中两种流行多态性（rs3807598和rs1859168）的基因型，其中包括402名神经母细胞瘤患者和473名健康对照者。使用逻辑回归来评估HOTTIP多态性与神经母细胞瘤易感性可能性之间的关系。此外，使用基因型-组织表达（GTEx）数据库来研究这些HOTTIP基因变异如何影响不同组织中的基因表达。我们的研究结果表明rs1859168 C > a多态性与神经母细胞瘤易感性降低之间存在显著关联(CA vs. CC：校正优势比(OR) = 0.55, 95%可信区间(CI) = 0.40-0.74, P = 0.0001；CA / AA与CC:调整或= 0.69,95% CI -0.91 = 0.53, P = 0.010)。另外的分层分析显示，rs1859168 CA/AA或两种保护性基因型的存在与特定亚组（如年龄较大的儿童和女孩）的低易感性相关。表达数量性状位点（eQTL）分析显示，rs1859168 CC基因型与HOTTIP基因高表达相关。结论：我们发现HOTTIP基因多态性与中国儿童患神经母细胞瘤的可能性降低有关。有必要对大群体和不同种族进行进一步的研究来验证我们的结果。已知情况：•遗传变异可以影响神经母细胞瘤的易感性。HOTTIP基因多态性可能改变个体对各种癌症的易感性。最新进展：•HOTTIP基因多态性与中国儿童神经母细胞瘤风险降低相关。

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HOTTIP rs1859168 C > A polymorphism reduces neuroblastoma susceptibility in Chinese children.

Neuroblastoma, " a malignancy originating from neural crest cells, is most commonly diagnosed in children and adolescents. Polymorphisms within the long noncoding RNA (lncRNA) HOXA distal transcript antisense RNA (HOTTIP) are believed to have the capacity to alter an individual's susceptibility to various cancers. This study aimed to investigate the link between HOTTIP gene polymorphisms and neuroblastoma susceptibility. We identified the genotypes of two prevalent polymorphisms (rs3807598 and rs1859168) within the HOTTIP via the TaqMan assay in a cohort comprising 402 individuals diagnosed with neuroblastoma and 473 healthy controls. Logistic regression was used to evaluate the associations between the HOTTIP polymorphisms and the likelihood of neuroblastoma susceptibility. Additionally, the genotype-tissue expression (GTEx) database was used to investigate how these HOTTIP gene variations influence gene expression across different tissues. Our findings demonstrated a significant association between the rs1859168 C > A polymorphism and reduced neuroblastoma susceptibility (CA vs. CC: adjusted odds ratio (OR) = 0.55, 95% confidence interval (CI) = 0.40-0.74, P = 0.0001; CA/AA vs. CC: adjusted OR = 0.69, 95% CI = 0.53-0.91, P = 0.010). The additional stratified analysis revealed that the presence of rs1859168 CA/AA or two protective genotypes was associated with a lower susceptibility in specific subgroups, such as older children and girls. Expression quantitative trait locus (eQTL) analysis revealed that the rs1859168 CC genotype was related to high expression of the HOTTIP gene.

Conclusion: We found that HOTTIP gene polymorphisms were associated with a reduced likelihood of neuroblastoma in Chinese children. Further studies with large cohorts and diverse ethnicities are warranted to verify our results.

What is known: • Genetic variations can influence neuroblastoma susceptibility. HOTTIP gene polymorphisms may alter an individual's susceptibility to various cancers.

What is new: • HOTTIP gene polymorphisms were associated with a reduced risk of neuroblastoma in Chinese children.

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来源期刊

European Journal of Pediatrics 医学-小儿科

CiteScore

5.90

自引率

2.80%

发文量

367

审稿时长

3-6 weeks

期刊介绍： The European Journal of Pediatrics (EJPE) is a leading peer-reviewed medical journal which covers the entire field of pediatrics. The editors encourage authors to submit original articles, reviews, short communications, and correspondence on all relevant themes and topics. EJPE is particularly committed to the publication of articles on important new clinical research that will have an immediate impact on clinical pediatric practice. The editorial office very much welcomes ideas for publications, whether individual articles or article series, that fit this goal and is always willing to address inquiries from authors regarding potential submissions. Invited review articles on clinical pediatrics that provide comprehensive coverage of a subject of importance are also regularly commissioned. The short publication time reflects both the commitment of the editors and publishers and their passion for new developments in the field of pediatrics. EJPE is active on social media (@EurJPediatrics) and we invite you to participate. EJPE is the official journal of the European Academy of Paediatrics (EAP) and publishes guidelines and statements in cooperation with the EAP.