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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 ArabiaCorrespondence: Laith N AL-EitanJordan University of Science and Technology, P.O. Box 3030, Irbid 22110, JordanTel +962-2-7201000 Ext.:23464Fax +962-2-7201071Email lneitan@just.eduPurpose: 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 |
