OSCR

Mendelian Randomization and Single-Cell RNA Sequencing Reveal CKAP4 and PFDN5 as Tumor Cell-Specific Causal Genes for Glioblastoma.

Overview

Authors: Chong Huang1, Minhai Dong1, Yongjia Yu1, Chunxi Wang1, Chaojue Huang1, Tang Li1, Xiangsheng Su1, Fengqiang Shi1, Daqin Feng1
ORCID iDs: Chong Huang
  1. Department of Neurosurgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530021, People’s Republic of China
Journal: International journal of general medicine, volume 19, article 605071
Dates: received 24 February 2026; accepted 10 June 2026; published online 22 June 2026
Type: Research article · Language: English
License: CC BY-NC
Identifiers: DOI 10.2147/ijgm.s605071 · PMID 42369563 · PMCID PMC13308729 · OpenAlex W7165566875
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), other condition (population), cellular / molecular (subfield)
Methods: Statistics, Smoothing, state filtering, decompositions, Connectivity
Keywords: glioblastoma, single-cell analysis, Mendelian randomization analysis, differentially expressed genes, gene set enrichment analysis, drug sensitivity analysis
Topic: Single-cell and spatial transcriptomics (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Citations: not cited yet (Europe PMC); 59 references in the paper

Abstract

Background: Glioblastoma (GBM) is an aggressive primary brain tumor with unclear etiology. We aimed to identify causal risk genes by integrating single-cell RNA sequencing (scRNA-seq) and Mendelian randomization (MR).

Methods: Differentially expressed genes (DEGs) from public databases were overlapped and analyzed via MR to screen for causal genes. A prognostic model was built using these genes and validated through immune infiltration analysis, single-cell mapping, and experimental assays (RT-qPCR, Western blot).

Results: A 6-gene prognostic signature (TMEM158, HOXB2, CKAP4, PEPD, PFDN5, NPC2) was established, where higher risk scores correlated with poorer overall survival and distinct immune profiles. scRNA-seq confirmed tumor cell-specific expression, validated experimentally. Multivariate MR highlighted CKAP4 and PFDN5 as having direct causal links to GBM.

Conclusion: The 6-gene signature predicts GBM prognosis, and CKAP4/PFDN5 are promising causal biomarkers and therapeutic targets. This integrated approach provides novel molecular insights and supports personalized therapy development in GBM.

Reproduced under the paper's license (CC BY-NC), from the paper cited above.

Code

The paper links to its data, not to its authors' code: see the Data section.

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Data

Datasets cited

Data Sharing Statement

The data underlying this article are available in the Cancer Genome Atlas (TCGA) at http://xena.ucsc.edu/, Chinese Glioma Genome Altas (CGGA) at http://www.cgga.org.cn/, and IEU OpenGWAS at https://gwas.mrcieu.ac.uk/.

Reproduced under the paper's license (CC BY-NC), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, pages, dates, 9 authors, 6 keywords, 57 references.

Cite

This paper

Huang, C., Dong, M., Yu, Y., Wang, C., Huang, C., Li, T., Su, X., Shi, F., & Feng, D. (2026). Mendelian Randomization and Single-Cell RNA Sequencing Reveal CKAP4 and PFDN5 as Tumor Cell-Specific Causal Genes for Glioblastoma. International journal of general medicine, 19, 605071. https://doi.org/10.2147/ijgm.s605071

BibTeX

@article{huang2026mendelian,
author = {Huang, Chong and Dong, Minhai and Yu, Yongjia and Wang, Chunxi and Huang, Chaojue and Li, Tang and Su, Xiangsheng and Shi, Fengqiang and Feng, Daqin},
title = {{Mendelian Randomization and Single-Cell RNA Sequencing Reveal CKAP4 and PFDN5 as Tumor Cell-Specific Causal Genes for Glioblastoma}},
journal = {International journal of general medicine},
year = {2026},
month = jun,
volume = {19},
pages = {605071},
publisher = {Dove Press},
issn = {1178-7074},
doi = {10.2147/ijgm.s605071},
url = {https://doi.org/10.2147/ijgm.s605071},
pmid = {42369563},
pmcid = {PMC13308729}
}

RIS

TY - JOUR
AU - Huang, Chong
AU - Dong, Minhai
AU - Yu, Yongjia
AU - Wang, Chunxi
AU - Huang, Chaojue
AU - Li, Tang
AU - Su, Xiangsheng
AU - Shi, Fengqiang
AU - Feng, Daqin
TI - Mendelian Randomization and Single-Cell RNA Sequencing Reveal CKAP4 and PFDN5 as Tumor Cell-Specific Causal Genes for Glioblastoma
T2 - International journal of general medicine
J2 - Int J Gen Med
PY - 2026
DA - 2026/06/22
VL - 19
SP - 605071
SN - 1178-7074
PB - Dove Press
DO - 10.2147/ijgm.s605071
UR - https://doi.org/10.2147/ijgm.s605071
LA - en
ER -

CSL-JSON

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"container-title": "International journal of general medicine",
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"ISSN": "1178-7074",
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"language": "en",
"issued": {
"date-parts": [
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