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

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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Abstract

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.