Screening the c677t polymorphism of the MTHFR gene in assessing disease severity and response to methotrexate treatment in children with juvenile idiopathic arthritis
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IACOMI, Vladimir. Screening the c677t polymorphism of the MTHFR gene in assessing disease severity and response to methotrexate treatment in children with juvenile idiopathic arthritis. In: MedEspera: International Medical Congress for Students and Young Doctors, Ed. 7th edition, 3-5 mai 2018, Chişinău. Chisinau, Republic of Moldova: 2018, 7, pp. 62-63.
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MedEspera
7, 2018
Congresul "International Medical Congress for Students and Young Doctors"
7th edition, Chişinău, Moldova, 3-5 mai 2018

Screening the c677t polymorphism of the MTHFR gene in assessing disease severity and response to methotrexate treatment in children with juvenile idiopathic arthritis


Pag. 62-63

Iacomi Vladimir
 
”Nicolae Testemițanu” State University of Medicine and Pharmacy
 
Disponibil în IBN: 2 noiembrie 2020


Rezumat

Introduction. Existing data regarding the association of the mutation of methylenetetrahydrofolate reductase (MTHFR) gene with methotrexate (MTX) treatment efficacy and side effects in patients with juvenile idiopathic arthritis (JIA) is still contradictory. Therefore, genetic studies of the role of this mutation are necessary in order to provide personalized treatment for this group of patients and decrease the risk of MTX side effects. Aim of the study. To evaluate the association between the presence of the MTHFR gene mutation and methotrexate responsiveness using Juvenile Arthritis Disease Activity Score (JADAS71), Pediatric ACR 20,50,70,90 Index and Methotrexate Intolerance Severity Score (MISS) in children with JIA. Materials and methods. A case-control study included 18 children with JIA who had being on MTX treatment for more than 6 months. Clinical and laboratory data of all patients was analyzed in order to determine the JADAS71 Score, Pediatric ACR 20,50,70,90 Index and MISS Score. The JADAS71 Score and Pediatric ACR 20,50,70,90 Index allow assessing disease’s activity. The MISS Score is used to evaluate the MTX side effects. The polymorphism C677T of the MTHFR gene was identified using the PCR techniques. Results. There has been examined 18 children in whom was identified 7 (38.9%) cases of no mutation, 2 (11.1%) cases of T/T homozygotes and 9 (50%) cases of C/T heterozygotes in the 677 nucleotide of the MTHFR gene. The JADAS71 Score was higher in the heterozygote cases with the mean value 18.1 (p=0.0013), compared to the non-mutation sample – 2.7 (p=0.0022). The Pediatric ACR index in heterozygote sample had a mean value of 22% (p=0.0011) clinical improvement compared to the control group - 37% (p=0.001). The MISS score in heterozygotes had a mean value of 7.8 (p=0.0011) points compared to the control group – 4.6 (p=0.001). Conclusions. A significant correlation between the MTHFR gene heterozygote mutation status and the MTX non-responsiveness, as well as the side effects occurrence has been revealed. These preliminary results may suggest the need for an individual genetic examination before immunosuppressive treatment in JIA initiation.

Cuvinte-cheie
methylenetetrahydrofolate reductase, methotrexate, arthritis, children