Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.
Epilepsy
SCN
genetic variant
prognosis
Journal
Annals of medicine
ISSN: 1365-2060
Titre abrégé: Ann Med
Pays: England
ID NLM: 8906388
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
entrez:
8
7
2022
pubmed:
9
7
2022
medline:
12
7
2022
Statut:
ppublish
Résumé
Epilepsy is a heterogeneous complex condition that involve the human brain. Genetic predisposition to epilepsy is a fundamental factor of the disorder aetiology. The sodium voltage-gated channel (SCN) genes variants are critical biomarker for the epilepsy development and progression. In this study, we aimed to investigate the association of several SNCs genetic polymorphisms with epilepsy risk and their intrudance of the disease prognosis. Blood samples were withdrawn from 296 Epilepsy patients in addition to 293 healthy matched participants prior to DNA extraction. PCR-sequencing was used for genotyping analysis. Genotyping outputs were then statistically analysed for genotype/phenotype evaluation. Within SCN1A gene we found that the rs6432861 ( In light of our results, we infer that SCN genes polymorphisms are strong candidates for epilepsy development and progression. Furthermore, these variant are essential for the disorder prognosis and medications outcomes.Key MessagesGenetic polymorphisms of sodium channels SCN1A, SCN2A and SCN3A were found to be associated with the risk of epilepsy.SCN1B polymorphisms were found to be correlated to epilepsy reduced risk.SCNs variants are involved in the epilepsy prognosis and response to treatment.
Sections du résumé
BACKGROUND
Epilepsy is a heterogeneous complex condition that involve the human brain. Genetic predisposition to epilepsy is a fundamental factor of the disorder aetiology. The sodium voltage-gated channel (SCN) genes variants are critical biomarker for the epilepsy development and progression. In this study, we aimed to investigate the association of several SNCs genetic polymorphisms with epilepsy risk and their intrudance of the disease prognosis.
METHODS
Blood samples were withdrawn from 296 Epilepsy patients in addition to 293 healthy matched participants prior to DNA extraction. PCR-sequencing was used for genotyping analysis. Genotyping outputs were then statistically analysed for genotype/phenotype evaluation.
RESULTS
Within SCN1A gene we found that the rs6432861 (
CONCLUSION
In light of our results, we infer that SCN genes polymorphisms are strong candidates for epilepsy development and progression. Furthermore, these variant are essential for the disorder prognosis and medications outcomes.Key MessagesGenetic polymorphisms of sodium channels SCN1A, SCN2A and SCN3A were found to be associated with the risk of epilepsy.SCN1B polymorphisms were found to be correlated to epilepsy reduced risk.SCNs variants are involved in the epilepsy prognosis and response to treatment.
Identifiants
pubmed: 35801810
doi: 10.1080/07853890.2022.2096257
pmc: PMC9367647
doi:
Substances chimiques
NAV1.1 Voltage-Gated Sodium Channel
0
NAV1.2 Voltage-Gated Sodium Channel
0
NAV1.3 Voltage-Gated Sodium Channel
0
SCN1A protein, human
0
SCN1B protein, human
0
SCN2A protein, human
0
SCN3A protein, human
0
Sodium Channels
0
Voltage-Gated Sodium Channel beta-1 Subunit
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1938-1951Références
Seizure. 2018 Nov;62:99-105
pubmed: 30321769
Clin Genet. 2017 Sep;92(3):327-331
pubmed: 28218389
Epilepsy Behav. 2012 Mar;23(3):177-86
pubmed: 22341965
Dis Mon. 2003 Jul;49(7):426-78
pubmed: 12838266
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Feb;20(2):130-133
pubmed: 29429462
Epilepsia. 2010 Sep;51(9):1650-8
pubmed: 20831750
Front Neurol. 2020 Feb 14;11:65
pubmed: 32117026
Seizure. 2007 Jan;16(1):69-73
pubmed: 17150378
Biosci Rep. 2018 Dec 18;38(6):
pubmed: 30413604
Hum Mutat. 2005 Jun;25(6):535-42
pubmed: 15880351
J Neurosci. 2009 Aug 26;29(34):10764-78
pubmed: 19710327
Pharmacogenomics. 2013 Jul;14(10):1153-66
pubmed: 23859570
Neurology. 2015 Sep 15;85(11):958-66
pubmed: 26291284
Medicine (Baltimore). 2019 Mar;98(13):e14974
pubmed: 30921204
Neurobiol Dis. 2017 Jun;102:38-48
pubmed: 28235671
Seizure. 2018 Feb;55:30-35
pubmed: 29353705
Ann Neurol. 2018 Apr;83(4):703-717
pubmed: 29466837
Epilepsia Open. 2017 Jan 19;2(1):76-83
pubmed: 29750215
Nat Genet. 2001 May;28(1):46-8
pubmed: 11326274
Dialogues Clin Neurosci. 2008;10(1):29-38
pubmed: 18472482
Curr Med Chem. 2011;18(3):377-97
pubmed: 21143119
Biomed Res Int. 2020 Feb 25;2020:8096235
pubmed: 32185219
Pharmacogenet Genomics. 2008 Nov;18(11):989-98
pubmed: 18784617
Epilepsia. 2010 Apr;51(4):694-8
pubmed: 20041941
Epilepsia. 2005 Jun;46(6):956-60
pubmed: 15946339
Discoveries (Craiova). 2020 Jun 12;8(2):e110
pubmed: 32577498
Mol Biol Evol. 2011 Jan;28(1):859-71
pubmed: 20924084
J Neurosci. 2006 Mar 8;26(10):2714-23
pubmed: 16525050
Rev Neurol (Paris). 2020 Jun;176(6):408-426
pubmed: 32331701