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Al-Eitan LN, Al-Dalalah IM, Mustafa MM, et al. Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study. Pharmgenomics Pers Med. 2019;12:225-233doi: 10.2147/PGPM.S212433.
Al-Eitan, L. N., Al-Dalalah, I. M., Mustafa, M. M., Alghamdi, M. A., Elshammari, A. K., Khreisat, W. H., Al-Quasmi, M. N., & Aljamal, H. A. (2019). Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study. Pharmacogenomics and personalized medicine, 12225-233. https://doi.org/10.2147/PGPM.S212433
Al-Eitan, Laith N, et al. "Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study." Pharmacogenomics and personalized medicine vol. 12 (2019): 225-233. doi: https://doi.org/10.2147/PGPM.S212433
Al-Eitan LN, Al-Dalalah IM, Mustafa MM, Alghamdi MA, Elshammari AK, Khreisat WH, Al-Quasmi MN, Aljamal HA. Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study. Pharmgenomics Pers Med. 2019 Sep 04;12:225-233. doi: 10.2147/PGPM.S212433. eCollection 2019. PMID: 31564953; PMCID: PMC6732506.
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Pharmgenomics Pers Med. 2019 Sep 04;12:225-233. doi: 10.2147/PGPM.S212433. eCollection 2019.

Genetic polymorphisms of CYP3A5, CHRM2, and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case-control study.

Pharmacogenomics and personalized medicine

Laith N Al-Eitan, Islam M Al-Dalalah, Mohamed M Mustafa, Mansour A Alghamdi, Afrah K Elshammari, Wael H Khreisat, Mohammed N Al-Quasmi, Hanan A Aljamal

Affiliations

  1. Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan.
  2. Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
  3. Department of Neuroscience, Jordan University of Science and Technology, Irbid, Jordan.
  4. Anatomy Department, College of Medicine, King Khalid University, Abha, Saudi Arabia.
  5. Department of Pediatric Neurology, Queen Rania Hospital for Children, King Hussein Medical Center, Royal Medical Services, Amman, Jordan.
  6. Department of Medical Laboratory, King Abdullah University Hospital, Irbid, Jordan.

PMID: 31564953 PMCID: PMC6732506 DOI: 10.2147/PGPM.S212433

Abstract

BACKGROUND: A total of 50 million persons were diagnosed worldwide with epilepsy. One-third of them are experiencing debilitating seizures despite optimum anti-epileptic drugs (AEDs) treatment. Several studies have suggested that CYP3A5, CHRM2, and ZNF498 influence the pharmacokinetics of AEDs. Therefore, the severity of the disease as well as the degree of response to the AEDs could be affected by the genetic polymorphisms within these genes.

OBJECTIVES: In this study, we assessed the effect of certain single nucleotide polymorphisms (SNPs) within

METHODS: A case-control and pharmacogenetic study was conducted on samples of 299 healthy individuals in addition to 296 epileptic patients. Genotypic, allelic, and clinical data association were performed for the selected polymorphisms within the (rs324649, rs420817, rs15524, and rs1859690) in the Jordanian population.

RESULTS: The analysis revealed no significant association of the investigated SNPs with epilepsy in general, partial and generalized epilepsy as well as drug responsiveness.

CONCLUSION: Our results failed to confirm the association of

© 2019 AL-Eitan et al.

Keywords: anti-epileptic drugs; cytochrome P-450 CYP3A; epilepsy; humans; pharmacogenetics; seizures

Conflict of interest statement

The authors report no conflicts of interest in this work.

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