Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province

Abstract Background Neuroblastoma, developed from the sympathetic nervous system, is a deadly childhood malignancy. There is an urgent need to elucidate its intricated etiology. MYCN amplification leads to aggressive neuroblastoma and represents a powerful marker of poor prognosis. However, the corr...

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Main Authors: Jiabin Liu, Mengzhen Zhang, Yu Ouyang, Jiaming Chang, Wenli Zhang, Chunlei Zhou, Jing He, Xinxin Zhang
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Cancer
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Online Access:https://doi.org/10.1186/s12885-025-14310-w
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author Jiabin Liu
Mengzhen Zhang
Yu Ouyang
Jiaming Chang
Wenli Zhang
Chunlei Zhou
Jing He
Xinxin Zhang
author_facet Jiabin Liu
Mengzhen Zhang
Yu Ouyang
Jiaming Chang
Wenli Zhang
Chunlei Zhou
Jing He
Xinxin Zhang
author_sort Jiabin Liu
collection DOAJ
description Abstract Background Neuroblastoma, developed from the sympathetic nervous system, is a deadly childhood malignancy. There is an urgent need to elucidate its intricated etiology. MYCN amplification leads to aggressive neuroblastoma and represents a powerful marker of poor prognosis. However, the correlation between MYCN gene polymorphisms and neuroblastoma susceptibility remains largely unknown in Chinese Han children. Methods We conducted a case-control study to evaluate the associations between MYCN gene polymorphisms and neuroblastoma susceptibility, involving 402 cases and 473 controls from Jiangsu Province, China. The association strength between the studied polymorphisms and neuroblastoma susceptibility was quantified using odds ratios and 95% confidence intervals. Results Four studied polymorphisms (rs57961569 G > A, rs9653226 T > C, rs13034994 A > G, and rs60226897 G > A) were significantly associated with neuroblastoma susceptibility. Stratified analysis of two polymorphisms (rs13034994 A > G and rs60226897 G > A) demonstrated stronger associations with neuroblastoma susceptibility in specific subgroups. Moreover, survival analysis demonstrated elevated MYCN expression in high-risk patients, with reduced expression correlating to improved survival outcomes. Conclusion Our study indicated that MYCN gene polymorphisms are significantly associated with neuroblastoma susceptibility in the eastern Chinese population and that high expression of the MYCN gene may suggest a poor prognosis. Nevertheless, further verification should be conducted with large-scale and well-designed studies to confirm our findings.
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spelling doaj-art-18bf6c7670c04ad0ae3d9f9991a167bc2025-08-20T03:48:18ZengBMCBMC Cancer1471-24072025-05-0125111010.1186/s12885-025-14310-wAssociation between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu ProvinceJiabin Liu0Mengzhen Zhang1Yu Ouyang2Jiaming Chang3Wenli Zhang4Chunlei Zhou5Jing He6Xinxin Zhang7Department of Pediatric Surgery, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Guangzhou Women and Children’s Medical Center Liuzhou HospitalDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Pediatric Surgery, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Guangzhou Women and Children’s Medical Center Liuzhou HospitalDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Pathology, Children’s Hospital of Nanjing Medical UniversityDepartment of Pediatric Surgery, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Guangzhou Women and Children’s Medical Center Liuzhou HospitalDepartment of Pediatric Surgery, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Guangzhou Women and Children’s Medical Center Liuzhou HospitalAbstract Background Neuroblastoma, developed from the sympathetic nervous system, is a deadly childhood malignancy. There is an urgent need to elucidate its intricated etiology. MYCN amplification leads to aggressive neuroblastoma and represents a powerful marker of poor prognosis. However, the correlation between MYCN gene polymorphisms and neuroblastoma susceptibility remains largely unknown in Chinese Han children. Methods We conducted a case-control study to evaluate the associations between MYCN gene polymorphisms and neuroblastoma susceptibility, involving 402 cases and 473 controls from Jiangsu Province, China. The association strength between the studied polymorphisms and neuroblastoma susceptibility was quantified using odds ratios and 95% confidence intervals. Results Four studied polymorphisms (rs57961569 G > A, rs9653226 T > C, rs13034994 A > G, and rs60226897 G > A) were significantly associated with neuroblastoma susceptibility. Stratified analysis of two polymorphisms (rs13034994 A > G and rs60226897 G > A) demonstrated stronger associations with neuroblastoma susceptibility in specific subgroups. Moreover, survival analysis demonstrated elevated MYCN expression in high-risk patients, with reduced expression correlating to improved survival outcomes. Conclusion Our study indicated that MYCN gene polymorphisms are significantly associated with neuroblastoma susceptibility in the eastern Chinese population and that high expression of the MYCN gene may suggest a poor prognosis. Nevertheless, further verification should be conducted with large-scale and well-designed studies to confirm our findings.https://doi.org/10.1186/s12885-025-14310-wMYCNPolymorphismNeuroblastomaSusceptibility
spellingShingle Jiabin Liu
Mengzhen Zhang
Yu Ouyang
Jiaming Chang
Wenli Zhang
Chunlei Zhou
Jing He
Xinxin Zhang
Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
BMC Cancer
MYCN
Polymorphism
Neuroblastoma
Susceptibility
title Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
title_full Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
title_fullStr Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
title_full_unstemmed Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
title_short Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province
title_sort association between mycn gene polymorphisms and neuroblastoma susceptibility a case control study in chinese children from jiangsu province
topic MYCN
Polymorphism
Neuroblastoma
Susceptibility
url https://doi.org/10.1186/s12885-025-14310-w
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