Abstract
Background
Epilepsy is one of the most common neurological diseases with unclear etiology where its genetic background and treatment regime still need further exploration.
Objectives
This study designed to evaluate the pharmacogenomics of MTHFR and ABCC2 genes, and their association with epilepsy susceptibility among Jordanian population.
Methods
A case-control study was conducted on Jordanian cohort of 296 epileptic patients and 299 healthy individuals. Custom platform array was used to genotype the genetic polymorphisms within MTHFR (rs1801133) and ABCC2 (rs717620, rs3740066, rs2273697) genes.
Results
This study revealed a significant genetic association of MTHFR rs1801133 polymorphism with susceptibility to generalized in general and generalized tonic-clonic epilepsy (GTCE)(p=0.018 and 0.01, respectively). Regarding ABCC2 gene, rs717620 was of linkage with generalized and GTCE subtypes (p=0.045 and 0.048, respectively), while rs717620 was associated with poor responder patients (p=0.036) with no linkage of the ABCC2 haplotypes.
Conclusions
MTHFR and ABCC2 polymorphisms showed an association with either epilepsy types in general or subtypes and treatment response among Jordanian population. This study also suggested that these gene polymorphisms have an important role in epilepsy development and drug effectiveness and could be of a great impact in the era of epilepsy diagnosis and treatment.
Acknowledgments
This work was supported by the Deanship of Research at Jordan University of Science and Technology under grant number (RN: 104/2017).
Abbreviation list
AED, Antiepileptic drug; MTHFR, methylenetetrahydrofolate reductase; ABCC2, ATP-binding cassette subfamily C member 2; MRP, Multidrug resistance protein; BBB, Blood-brain barrier; GE, Generalized onset epilepsy; FE, Focal onset epilepsy; GME, Generalized myoclonic epilepsy; GTCE, Generalized tonic-clonic epilepsy; PWE, Patients with epilepsy.
Ethics approval and informed consent
All procedures contributing to this work complied with the ethical standards of the relevant national and institutional committees on human experimentation and the Declaration of Helsinki with an IRB no. (16/111/2017)
Data availability
The datasets generated and analyzed during the current study are not publicly available. The consent from participants did not cover data sharing but are available from the corresponding author on reasonable request.
Disclosure
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.