Four-Gene Blood Signature for Kashin-Beck Disease Diagnosis

Minghui Guo's dataset contains a four-gene blood-based diagnostic signature (C4B, AQP1, HBA2, ACSL6) for Kashin-Beck disease. It was derived from transcriptomic analysis of peripheral blood across four independent cohorts using machine learning. The dataset was last updated on May 13, 2026.

Use Cases

• Validate a diagnostic model for Kashin-Beck disease based on the four-gene signature.
• Investigate immune and metabolic pathway alterations in Kashin-Beck disease based on the described transcriptomic features.
• Compare diagnostic performance of the blood signature across different patient cohorts as suggested by the multi-cohort analysis.
• Integrate genetic association data for biological interpretation of the diagnostic genes.

Strengths

• Signature validated across four independent blood cohorts, suggesting cross-cohort reliability.
• Dataset is compact and interpretable, focusing on a four-gene set.
• Analysis integrated multiple feature selection strategies and machine learning models.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data may reflect geographic or cohort bias inherent to the source studies.

Provenance

Source

figshare

Collection Method

Analysis of peripheral blood transcriptomic data from four independent cohorts using differential expression analysis, weighted gene co-expression network analysis, and machine learning.

Freshness

Last updated 2026-05-13 05:56:46; freshness should be verified.