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Multicenter Study
. 2022 Nov 3;58(11):1593.
doi: 10.3390/medicina58111593.

Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia

Reem Alyoubi  1 , Abdullah Althomali  2   3 , Rania Magadmi  2 , Hala S Abdel Kawy  2 , Hadiah Bassam Al Mahdi  4   5 , Fatemah O Kamel  2 , Duaa M Bakhshwin  2 , Maha Jamal  2 , Mohammed Alsieni  2
Affiliations
Multicenter Study

Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia

Reem Alyoubi et al. Medicina (Kaunas). .

Abstract

Background and ObjectivesEpilepsy is a chronic brain disease, with inherent and noninherent factors. Although over 20 anti-seizure medications (ASMs) are commercially available, nearly one-third of patients develop drug-resistant epilepsy. We evaluated the association between the clinical features and the methyl tetrahydrofolate (MTHFR) rs1801133 polymorphism and ASMs response among pediatric patients with epilepsy. Materials and Methods This was a multicenter, retrospective, case-control study of 101 children with epilepsy and 59 healthy children in Jeddah. The MTHFR rs1801133 polymorphism was genotyped using the real-time polymerase chain reaction TaqMan Genotyping Assay. Results Among the patients with epilepsy, 56 and 45 showed good and poor responses to ASMs, respectively. No significant genetic association was noted between the single-nucleotide polymorphism (SNP) rs1801133 within the MTHFR gene and the response to ASMs. However, a significant association was noted between reports of drug-induced toxicity and an increase in allele A frequencies. The MTHFR rs1801133 genotype was significantly associated with the development of electrolyte disturbance among good and poor responders to ASMs. Conclusion This is the first pharmacogenetic study of MTHFR in patients with epilepsy in Saudi Arabia that found no significant association between the MTHFR SNP rs1801133 and gene susceptibility and drug responsiveness. A larger sample size is needed for testing gene polymorphisms in the future.

Keywords: MTHFR; anti-seizure medication; epilepsy; gene polymorphism; pediatric.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flowchart of enrollment and analysis process.
Figure 2
Figure 2
Allelic discrimination plot for rs1801133 from random samples: (A) control samples; (B) patient samples.
Figure 3
Figure 3
Electropherograms for rs1801133 validation: (A) homozygous G; (B) heterozygous G/A; (C) homozygous A.
See this image and copyright information in PMC

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