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World J Gastrointest Surg. Feb 27, 2026; 18(2): 114724
Published online Feb 27, 2026. doi: 10.4240/wjgs.v18.i2.114724
Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study
Xiao-Gang Xu, Yan-Qing Liu, Meng-Long Lan, Fei Liu, Hui-Min Xia, Ji-Xiao Zeng
Xiao-Gang Xu, Yan-Qing Liu, Meng-Long Lan, Fei Liu, Hui-Min Xia, Ji-Xiao Zeng, Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, National Children’s Medical Center for South Central Region, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, Guangdong Province, China
Author contributions: Xu XG, Liu YQ and Zeng JX conceived and designed the study; Xu XG, Xia HM and Zeng JX conducted the study; Liu YQ, Lan ML and Liu F contributed to data acquisition; Liu YQ, Lan ML and Liu F analyzed the data; Liu YQ, Lan ML and FL interpreted the data; Xu XG, Xia HM and Zeng JX edited the manuscript draft; Xu XG, Xia HM and Zeng JX reviewed and edited the manuscript; all authors have read and approved the manuscript.
Supported by the Science and Technology Project of Guangzhou, No. 202206080002; National Natural Science Foundation of China, No. 82170528; and Guangzhou Science and Technology Plan of Municipal University (Institute) Joint Funding, No. SL2024A03J01490.
Institutional review board statement: The study received ethical approval by the Research Ethics Committee of Guangzhou Women and Children Medical Center (Approval No. 2017102706).
Informed consent statement: Written informed consent was obtained for participation in this study. Informed consent for this study was obtained from the parent or legal guardian of any participant under 16 years of age.
Conflict-of-interest statement: This manuscript has no potential conflict of interest to disclose.
Data sharing statement: The individual genotype data generated in this study are not publicly available due to participant privacy and ethical restrictions but can be accessed through a controlled-access repository upon reasonable request to the corresponding author. Requests will be reviewed by the Guangzhou Women and Children Medical Center Ethics Committee to ensure compliance with data protection regulations.
Corresponding author: Ji-Xiao Zeng, MD, Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, National Children’s Medical Center for South Central Region, Guangdong Provincial Clinical Research Center for Child Health, No. 318 Renmin Road, Guangzhou 510623, Guangdong Province, China. zengjixiao@163.com
Received: September 28, 2025
Revised: October 31, 2025
Accepted: December 5, 2025
Published online: February 27, 2026
Processing time: 152 Days and 23.6 Hours
Core Tip

Core Tip: This case-control study explores the association between the neurotrophin-3 (NTF3) rs1805149A>G variant and Hirschsprung disease (HSCR) susceptibility in a southern Chinese Han population. Despite previous reports implicating NTF3 in HSCR pathogenesis, no significant association was found in this cohort. The results highlight the complexity of HSCR's genetic architecture and suggest that other factors, such as rare variants or multi-gene interactions, may play a more substantial role in its development. Further studies with larger sample sizes and diverse populations are needed to clarify the genetic basis of HSCR.