Evidence map›Paper›PMID 41721400›Full record

ArticleBMC medical genomics2026

Hub genes and molecular mechanisms related to hypospadias based on transcriptome sequencing data and bioinformatics analysis.

Haoyu Yao, Yingzhong Fan, Luping Li, Shengli Zhang, Kunfeng Du, Junmin Yue

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Article in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Haoyu YaoDepartment of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yingzhong FanDepartment of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. fanyingzhong6@163.com.ORCID http://orcid.org/0009-0007-2224-6203
Luping LiDepartment of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Shengli ZhangDepartment of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Kunfeng DuDepartment of Urology, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Junmin YueDepartment of Urology, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHypospadias, a prevalent congenital anomaly affecting patients’ quality of life, remains incompletely understood in terms of its pathogenesis. This study aimed to identify key genes and molecular mechanisms through transcriptome sequencing and bioinformatics analysis.

methodsTranscriptome sequencing was conducted on foreskin samples from 15 patients with hypospadias and 15 controls. Differential expression analysis and WGCNA were used to identify differentially expressed genes (DEGs) and key modules. Genes common to both approaches were further analyzed through PPI network filtering, followed by feature selection using LASSO and SVM-RFE algorithms. Hub genes were identified based on an AUC > 0.8. Functional, immune, and regulatory analyses were performed to investigate their biological roles.

resultsThree hub genes—CSF3R, SELL, and FCN1—demonstrated significant diagnostic potential (AUC > 0.8). Functional enrichment analysis revealed their association with cytokine receptor interaction and chemokine signaling pathways. Eleven immune cell types, including activated dendritic cells, were found to be elevated in the patient cohort. All hub genes were upregulated in the disease group.

conclusionCSF3R, SELL, and FCN1 represent potential diagnostic biomarkers for hypospadias and provide valuable insights into its molecular mechanisms and potential therapeutic approaches.

Indexed as

Computational BiologyGene Expression ProfilingHypospadiasTranscriptomeGene Regulatory NetworksHumansMaleProtein Interaction MapsBioinformaticsHub genesHypospadiasMolecular mechanismsTranscriptome sequencing data

Identifiers

PMID41721400
PMCPMC13032503

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