<p>Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients</p>

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.

Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia

“…Treatment of seizures in AD with low-dose antiepileptic drugs (AEDs) is usually well tolerated and efficacious, and selected AEDs might also help in slowing-down disease progression [269,270]. Anticonvulsants may suppress seizures in up to two-thirds of all patients, with no apparent effects on long-term prognosis [271].…”

Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan

“…However, this study encountered some limitations such as small sample size and focusing on genotyping certain polymorphisms. Moreover, only a few pharmacogenetic studies [33][34][35][36][37][38][39][40][41][42][43][44] have been conducted in Jordan. Therefore, more studies are recommended in this topic by investigating other VIP variants in different candidate genes.…”

<p>Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients</p>

“…5 To date, there is a limited number of studies investigating the genetic and pharmacogenetic basis of common diseases, including epilepsy among the Jordanian population. [6][7][8][9][10][11] Recent studies found that epilepsy is associated with several chromosomal regions, where mutations in these regions cause neurological dysfunction. 12 The solute carrier gene, SLC1A1, is a high-affinity glutamate transporter that is associated with neurodevelopmental phenotypes, such as myoclonic-atonic epilepsy and schizophrenia.…”