ArticleJournal of cell communication and signaling2026
Mendelian randomization analysis identifies HLA-A and AP2M1 as genetic biomarkers linked to immune-endocytic crosstalk in intervertebral disc degeneration.
Article in Journal of cell communication and signaling, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Mendelian randomization analysis identifies HLA-A and AP2M1 as genetic biomarkers linked to immune-endocytic crosstalk in intervertebral disc degeneration.Journal of cell communication and signaling · 2026Article
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5 authors.
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Abstract
Intervertebral disc degeneration (IVDD) is a major contributor to chronic spinal disorders, yet the role of endocytosis in its pathogenesis remains incompletely understood. In this study, we systematically investigated endocytosis-related genes associated with IVDD by integrating bulk transcriptome data, single-cell RNA sequencing datasets, and Mendelian randomization (MR) analysis. Differential expression analyses identified six ERGs consistently dysregulated in IVDD, among which HLA-A and AP2M1 exhibited significant causal associations with disease risk in MR analysis and were further validated in independent datasets. Functional enrichment and gene set enrichment analyses indicated that these genes were closely involved in immune-related pathways, including natural killer cell-mediated cytotoxicity and mammalian target of rapamycin signaling. Immune infiltration analysis revealed marked alterations in macrophages, activated CD4
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