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Background: This study aimed to evaluate the associations between genetic polymorphisms within target genes and clinical response to methotrexate (MTX) in Chinese rheumatoid arthritis (RA) patients.
Methods: One hundred and fifteen RA patients treated with MTX for approximately 3 months were enrolled, and clinical response was determined by European League Against Rheumatism (EULAR) response criteria and disease activity score in 28 joint counts - erythrocyte sedimentation rate (DAS28-ESR) low disease activity (LDA). Thirty genetic polymorphisms within DHFR, TYMS, ATIC, ADA, and AMPD1 were genotyped.
Results: The major allele of ATIC rs2372536 (RR = 0.85, 95% CI = 0.72 - 0.99, p = 0.04), ATIC rs4673991 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ATIC rs4673993 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ADA rs2057638 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03), and ADA rs6017375 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03) were found to be significantly associated with EULAR response under dominant model, while the major allele of ADA rs371927 (RR = 1.23, 95% CI = 1.04 - 1.46, p = 0.02) was shown to be significantly associated with EULAR re¬sponse under recessive model. Moreover, the major allele of ADA rs1799880 (RR = 0.60, 95% CI = 0.43 - 0.84, p = 0.003) and rs6031697 (RR = 0.61, 95% CI = 0.47 - 0.78, p < 0.001) were detected to be significantly associated with DAS28-ESR LDA.
Conclusions: Genetic polymorphisms within ATIC and ADA were significantly associated with clinical response to MTX in Chinese patients with RA.
DOI: 10.7754/Clin.Lab.2025.241250
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