单核苷酸多态性对幼年特发性关节炎患儿疾病活动度及甲氨蝶呤治疗副作用发生情况的影响，以及相关基因的作用。 （注：原文中“and and genes”表述有误，可能影响准确理解，推测完整内容后给出此译文供参考。）
The impact of single nucleotide polymorphisms in and genes on disease activity and the presence of methotrexate treatment side effects in children with juvenile idiopathic arthritis.
作者信息
Roszkiewicz Justyna, Michałek Dominika, Ryk Aleksandra, Szmyd Bartosz, Smolewska Elżbieta
机构信息
Department of Paediatric Cardiology and Rheumatology, Medical University of Lodz, Lodz, Poland.
Department of Biostatistics and Translational Medicine, Medical University of Lodz, Lodz, Poland.
出版信息
Arch Med Sci. 2023 May 24;19(3):810-813. doi: 10.5114/aoms/163259. eCollection 2023.
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).
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.
引言
确定甲基四氢叶酸还原酶（MTHFR）和蛋氨酸合成酶还原酶（MTRR）基因中的单核苷酸多态性（SNP）对波兰幼年特发性关节炎（JIA）儿童疾病活动度以及甲氨蝶呤（MTX）治疗不良事件发生情况的影响。
方法
使用从外周血样本中分离的基因组DNA进行SNP基因分型。
结果
携带MTHFR rs1801133 CT/TT变异的患者在MTX治疗基线时炎症标志物值、活动性关节炎关节数量及JADAS-71值更高。携带MTRR rs1801394 AG/AA变异的儿童在JIA诊断时炎症标志物值更高。
结论
MTHFR rs1801133和MTRR rs1801394多态性与JIA诊断时较高的疾病活动度相关。
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