Rheumatoid arthritis

The association between methotrexate metabolism-related gene polymorphisms and therapeutic efficacy and toxicity in patients with rheumatoid arthritis

Arthritis Res TherPublished Pharmacogenetic association study

Main finding · Improvement, SLC19A1 129 bp insertion alleleResult — go to the resultOdds ratio 2.564 95% CI 0.999–6.580

Authors' conclusion

The 129 bp insertion of the SLC19A1 gene was positively correlated with better treatment response, suggesting it may be more directly involved in MTX carriage or metabolism, exerting a stable additive effect on drug efficacy.

Study context

Population
Rheumatoid arthritis (RA) patients treated with methotrexate (MTX)
Participants
84 patients
Comparison
MTX metabolism-related gene polymorphisms and response to MTX
Outcome
Efficacy of MTX (improvement / response)
Methodological detailschi-square test or Fisher’s exact test, three gene models
  • Chi-square test or Fisher’s exact test
  • Three gene models

Main finding

Improvement, SLC19A1 129 bp insertion allele

Odds ratio

2.564

95% CI 0.999–6.580

P = 0.047

INS/INS + X/insvs X/X
OR 2.564 (95% CI 0.999–6.580); P = 0.047

As reported in the abstract

Further findings

Improvement, CTTGTACTTGTA of rs4149096 and C-allele of rs2291075

OR (95% CI)P value
CTTGTACTTGTA of rs4149096 and C-allele of rs22910754.145 (1.028–16.715)P = 0.036

Good response, same allele (rs4149096 / rs2291075)

OR (95% CI)P value
CTTGTACTTGTA of rs4149096 and C-allele of rs2291075Negatively associated0.188 (0.042–0.827)P = 0.036

Original publication

The association between methotrexate metabolism-related gene polymorphisms and therapeutic efficacy and toxicity in patients with rheumatoid arthritis. Arthritis Res Ther. Published 25 March 2026. doi:10.1186/s13075-026-03795-w

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