Rheumatoid arthritis

Identification of a novel transcriptome signature for predicting the response to anti-TNF-α treatment in patients with rheumatoid arthritis

Ann Rheum DisPublished Diagnostic accuracy study

Authors' conclusion

We identified a transcriptomic signature that aids the prediction of the response to TNFi treatment in patients with RA.

Study context

Population
Patients with rheumatoid arthritis (RA) before initiation of tumour necrosis factor inhibitors (TNFi) therapy
Participants
279 external validations
Outcome
Prediction of response to TNFi treatment (responders vs nonresponders)
Methodological detailsretrospective transcriptomic analysis, 2 public datasets (GSE138746 RNA-seq PBMC; GSE33377 whole-blood microarray), leave-one-out cross-validation, internal and external validation
  • Retrospective transcriptomic analysis
  • 2 public datasets (GSE138746 RNA-seq PBMC; GSE33377 whole-blood microarray)
  • Leave-one-out cross-validation
  • Internal and external validation

Performance

As reported in the abstract

Prediction of response to TNFi treatment
Test or modelAUC (GSE33377)AUC (internal validation, GSE138746)AUC (external validation)
7-gene signature0.840.89≥ 0.85

7-gene signature

AUC (GSE33377)0.84
AUC (internal validation, GSE138746)0.89
AUC (external validation)≥ 0.85

Further findings

Differentially expressed genes, responders vs nonresponders (RNA-seq, GSE138746)

Genes differentially expressed; none significant after Benjamini-Hochberg adjustment
53

18-gene signature, leave-one-out cross-validation predictive accuracy

Predictive accuracy
88.75%

Original publication

Identification of a novel transcriptome signature for predicting the response to anti-TNF-α treatment in patients with rheumatoid arthritis. Ann Rheum Dis. Published 3 September 2025. doi:10.1016/j.ard.2025.08.003

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