The impact of single nucleotide polymorphisms in MTHFR and MTRR genes on disease activity and the presence of methotrexate treatment side effects in children with juvenile idiopathic arthritis

Abstract

Introduction To determine the impact of single nucleotide polymorphisms (SNPs) in MTHFR and MTRR genes on disease activity and the presence of MTX therapy adverse events in Polish children with juvenile idiopathic arthritis (JIA). Material and methods SNP genotyping was performed using genomic DNA isolated from peripheral blood samples. Results Patients with MTHFR rs1801133 CT/TT variant had higher values of inflammatory markers, number of joints with active arthritis, and JADAS-71 value at the baseline of MTX treatment. Children with MTRR rs1801394 AG/AA variant presented higher inflammatory marker values at JIA diagnosis. Conclusions MTHFR rs1801133 and MTRR rs1801394 polymorphisms are associated with higher disease activity at the moment of JIA diagnosis.

Keywords

• methotrexate
• pharmacogenomics
• single nucleotide polymorphism
• juvenile idiopathic arthritis