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Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients

Authors AL-Eitan LN, Al-Dalala IM, Elshammari AK, Khreisat WH, Nimiri AF, Alnaamneh AH, Aljamal HA, Alghamdi MA

Received 21 July 2020

Accepted for publication 6 October 2020

Published 16 October 2020 Volume 2020:13 Pages 503—510


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Martin Bluth

Laith N AL-Eitan,1,2 Islam M Al-Dalala,3 Afrah K Elshammari,4 Wael H Khreisat,4 Aseel F Nimiri,4 Adan H Alnaamneh,1 Hanan A Aljamal,1 Mansour A Alghamdi5,6

1Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan; 2Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan; 3Department of Blood Banking, King Hussein Medical Centre, Royal Medical Services, Amman, Jordan; 4Queen Rania Hospital for Children, King Hussein Medical Center, Royal Medical Services, Amman, Jordan; 5Department of Anatomy, College of Medicine, King Khalid University, Abha 61421, Saudi Arabia; 6Genomics and Personalized Medicine Unit, College of Medicine, King Khalid University, Abha 61421, Saudi Arabia

Correspondence: Laith N AL-Eitan
Jordan University of Science and Technology, P.O. Box 3030, Irbid 22110, Jordan
Tel +962-2-7201000 Ext.:23464
Fax +962-2-7201071

Purpose: The aim of this study was to investigate the possible effects of single-nucleotide polymorphisms (SNPs) within SLC1A1, SLC6A1, FAM131B, GPLD1, F2, GABRG2, GABRA1, and CACNG5 genes on response to anti-epileptic drugs (AEDs) and the genetic predisposition of epilepsy in Jordanian patients.
Patients and Methods: A total of 299 healthy individuals and 296 pediatric patients from the Jordanian population were recruited. Blood samples are collected, and genotyping was performed using a custom platform array analysis.
Results: The SLC1A1 rs10815018 and FAM131B rs4236482 polymorphisms found to be associated with epilepsy susceptibility. Moreover, SLC1A1 rs10815018 and GPLD1 rs1126617 polymorphisms were associated with generalized epilepsy (GE), while FAM131B rs4236482 is associated with the focal phenotype. Regarding the therapeutic response, the genetic polymorphisms of FAM131B rs4236482, GABRA1 rs2279020, and CACNG5 rs740805 are conferred poor response (resistance) to AEDs. There was no linkage of GLPD1 haplotypes to epilepsy, its subtypes, and treatment responsiveness.
Conclusion: Our findings suggested that SLC1A1, FAM131B, and GPLD1 polymorphisms increasing the risk of generating epilepsy, while FAM131B, GABRA1, and CACNG5 variants may play a role in predicting drug response in patients with epilepsy (PWE).

Keywords: pharmacogenetics, anti-epileptic drugs, generalized epilepsy, focal epilepsy, pharmacotherapy, Jordan

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