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Purine Metabolism-Related Pathogenic Genes in Trigeminal Neuralgia: A Multiomics Mendelian Randomization Study
Simin Shen1, Jiyan Li1, Zheng Liu2
1Department of Pain, First Affiliated Hospital of Kunming Medical University, Kunming 650000, Yunnan, China, kmmc.cn.
Pain Research & Management
|August 7, 2026
Summary
This study links purine metabolism genes to trigeminal neuralgia (TN) using multiomics. Several genes, including ATP6V0E2, PLAT, and VKORC1, show genetic links to TN and may be druggable targets.
Area of Science:
- Genetics and Genomics
- Metabolomics
- Neuroscience
Background:
- Trigeminal neuralgia (TN) is a debilitating neuropathic pain condition.
- The genetic underpinnings and metabolic pathways contributing to TN remain incompletely understood.
- Purine metabolism plays crucial roles in cellular energy and signaling, potentially influencing neurological disorders.
Purpose of the Study:
- To investigate the association between purine metabolism-related genes and trigeminal neuralgia (TN).
- To utilize multiomics approaches, including Mendelian randomization, to identify genetic links.
- To explore potential therapeutic targets within these pathways.
Main Methods:
- Summary-data-based Mendelian randomization (SMR) integrated GWAS, mQTL, eQTL, and pQTL data.
- Colocalization and replication analyses were performed using UK Biobank and FinnGen datasets.
- Transcriptomic, single-cell RNA sequencing, and drug-target analyses provided validation and functional insights.
Main Results:
- Identified significant associations between purine metabolism genes and TN, with 23 genes supported by colocalization.
- Highlighted ATP6V0E2, PLAT, and VKORC1 for epigenetic regulation and druggability.
- Drug-target MR suggested CNOT7 and PLAT expression may lower TN risk; transcriptomic data showed downregulation post-nerve injury.
Conclusions:
- This study identifies key purine metabolism genes genetically associated with TN.
- Potential biological pathways and therapeutic targets for TN are highlighted.
- The findings provide a foundation for further research into metabolic dysregulation in TN.
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