ATIC错义变异影响类风湿关节炎患者对甲氨蝶呤治疗的反应。
ATIC missense variant affects response to methotrexate treatment in rheumatoid arthritis patients.
作者信息
Kurzawski Mateusz, Malinowski Damian, Szarmach Natalia, Nowak Anna, Goryniak Aleksandra, Pawlik Andrzej, Droździk Marek
机构信息
Department of Experimental & Clinical Pharmacology, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland.
Department of Physiology, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland.
出版信息
Pharmacogenomics. 2016 Dec;17(18):1971-1978. doi: 10.2217/pgs-2016-0125. Epub 2016 Nov 25.
AIM
The study was aimed at investigation of several gene variants of folate pathway enzymes for their potential association with methotrexate (MTX) treatment response in patients with rheumatoid arthritis.
PATIENTS & METHODS: Four hundred and twenty two Caucasian patients were classified as good or poor responders, and subsequently genotyped for common SNPs in DHFR, FPGS and ATIC genes.
RESULTS
No significant differences were observed in case of DHFR and FGPS SNPs. As for ATIC rs2372536 (Thr116Ser), GG minor genotype was significantly associated with good response to MTX (OR: 2.40; 95% CI: 1.30-4.42; p = 0.005), which was confirmed by multivariate analysis.
CONCLUSION
The results of the study suggest that ATIC missense rs2372536 SNP may influence response to MTX therapy in rheumatoid arthritis patients.
目的
本研究旨在调查叶酸途径酶的几种基因变异与类风湿关节炎患者甲氨蝶呤（MTX）治疗反应之间的潜在关联。
患者与方法
422名白种人患者被分为反应良好或反应不佳组，随后对二氢叶酸还原酶（DHFR）、叶酸多聚谷氨酸合成酶（FPGS）和氨基咪唑甲酰胺核苷酸转甲酰基酶（ATIC）基因中的常见单核苷酸多态性（SNP）进行基因分型。
结果
在DHFR和FGPS的SNP方面未观察到显著差异。至于ATIC基因的rs2372536（Thr116Ser），GG次要基因型与对MTX的良好反应显著相关（比值比：2.40；95%置信区间：1.30 - 4.42；p = 0.005），多变量分析证实了这一点。
结论
该研究结果表明，ATIC基因错义rs2372536 SNP可能影响类风湿关节炎患者对MTX治疗的反应。
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