González-Mercado Mirna Gisel, Rivas Fernando, Gallegos-Arreola M Patricia, Morán-Moguel M Cristina, Salazar-Páramo Mario, González-López Laura, Gámez-Nava J Iván, Muñoz-Valle J Francisco, Medina-Coss Y León Ricardo, González-Mercado Anahí, Aceves Mario A, Dávalos Nory O, Macías-Chumacera Agustín, Dávalos Ingrid P
1 Divisiones de Genética y Medicina Molecular, Centro de Investigación Biomédica de Occidente , IMSS, Guadalajara, México.
2 División de Biotecnología y Salud, Tecnológico de Monterrey , Guadalajara, México.
Genet Test Mol Biomarkers. 2017 Nov;21(11):698-704. doi: 10.1089/gtmb.2017.0124. Epub 2017 Oct 10.
To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX).
Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28). Single nucleotide polymorphisms (SNPs) genotyping was performed by allelic discrimination using real-time polymerase chain reaction.
Differences in genotype (homozygotic or heterozygotic for each allele), allele distributions, and phenotype were not statistically different between the RA group and control populations. We did not find any association between the studied polymorphisms and disease activity nor with the intragroup variables (e.g., clinical activity, body mass index, and single- or combined-drug treatment) or between genetic markers; we also did not find any association within the RA group or between the RA group and control populations.
Additional studies of more polymorphisms related to this or other metabolic pathways are required to determine the influence of genetics on disease activity in RA.
研究蛋白质产物在叶酸代谢途径中相关的基因多态性，特别是甲硫氨酸合成酶还原酶（MTRR）A66G、还原型叶酸载体1（RFC1）G80A以及亚甲基四氢叶酸还原酶（MTHFR）C677T和A1298C与接受甲氨蝶呤（MTX）治疗的墨西哥类风湿关节炎（RA）患者疾病活动度之间的关系。
本研究纳入了68例正在接受MTX治疗的RA患者，这些患者接受或未接受其他药物治疗。除一般数据外，采用疾病活动度评分28（DAS28）来衡量疾病活动度。通过等位基因鉴别使用实时聚合酶链反应进行单核苷酸多态性（SNP）基因分型。
RA组与对照人群在基因型（每个等位基因的纯合子或杂合子）、等位基因分布和表型方面的差异无统计学意义。我们未发现所研究的多态性与疾病活动度之间存在任何关联，也未发现与组内变量（如临床活动度、体重指数以及单药或联合用药治疗）或基因标记之间存在关联；我们在RA组内或RA组与对照人群之间也未发现任何关联。
需要对更多与此或其他代谢途径相关的多态性进行进一步研究，以确定遗传学对RA疾病活动度的影响。
