ArticleFrontiers in immunology2026
A blood-based four-gene diagnostic signature for Kashin-Beck disease revealed by multi-cohort transcriptomic analysis and machine learning.
Article in Frontiers in immunology, 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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Abstract
Background: Kashin-Beck disease (KBD) is an endemic osteoarthropathy characterized by growth retardation and progressive joint degeneration. However, its systemic molecular features in peripheral blood remain incompletely understood. Methods: Peripheral blood transcriptomic data from four independent cohorts were analyzed using differential expression analysis and weighted gene co-expression network analysis to identify KBD-associated gene sets. Multiple feature selection strategies and machine learning models were applied to construct and validate a blood-based diagnostic signature across cohorts. Immune cell composition was inferred by computational deconvolution, and transcription factor regulation, pathway enrichment, and genetic association data were integrated for biological interpretation. Results: A four-gene blood signature ( Conclusions: This study defines a compact and interpretable blood-based transcriptomic signature for KBD and provides insight into its systemic immune-related molecular context, supporting its potential utility for disease identification and mechanistic investigation.
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