A panel incorporating genetic variants of RIN3, NLRC3, and SLX4 shows promise in predicting remission after tofacitinib therapy in rheumatoid arthritis patients
Authors' conclusion
Combined variants of RIN3, NLRC3, and SLX4 genes have great potential for predicting remission in tofacitinib-treated patients.
Study context
- Population
- Rheumatoid arthritis (RA) patients who had received 24-week tofacitinib therapy
- Participants
- 242 patients
- Comparison
- Cohort-1 vs Cohort-2
- Cohort-1n = 94
- Cohort-2n = 148
- Outcome
- Remission (disease activity score-erythrocyte sedimentation rate (DAS28-ESR) <2.6) after tofacitinib therapy
- Follow-up
- Week 24
Methodological detailsdiscovery and replication cohorts, whole-exome sequencing, real-time polymerase chain reaction (RT-PCR) validation
- Discovery and replication cohorts
- Whole-exome sequencing
- RT-PCR validation
Performance
As reported in the abstract
Prediction of remission by combined RIN3, NLRC3 and SLX4 variants
| Test or model | AUC | Specificity | Accuracy |
|---|---|---|---|
| Cohort-1 | 0.831 | 97.4% | 91.5% |
| Cohort-2 | — not stated in the abstract | 97.0% | 86.0% |
AUC
Cohort-10.831
Cohort-2— not stated in the abstract
Specificity
Cohort-197.4%
Cohort-297.0%
Accuracy
Cohort-191.5%
Cohort-286.0%
— not stated in the abstract
- Whole-exome sequencing (WES) identified ten variants of RIN3, NLRC3 and SLX4 predictive of remission; results completely consistent with TaqMan assay or Sanger sequencing
- 10
Further findings
Prediction of remission by multiplexed one-step RT-PCR assay of the genetic panel
- Specificity
- 97.0%
- Accuracy
- 88.0%
Plasma levels of NLRC3, caspase-1 and IL-6, mutant vs naive gene
- Significant differences between mutant gene and naive gene
Original publication
A panel incorporating genetic variants of RIN3, NLRC3, and SLX4 shows promise in predicting remission after tofacitinib therapy in rheumatoid arthritis patients. Clin Exp Rheumatol. Published 19 May 2025. doi:10.
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