Department of Anatomy, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Genomics and Personalized Medicine Unit, College of Medicine, King Khalid University, Abha, Saudi Arabia.
Ann Med. 2022 Dec;54(1):1938-1951. doi: 10.1080/07853890.2022.2096257.
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Blood samples were withdrawn from 296 Epilepsy patients in addition to 293 healthy matched participants prior to DNA extraction.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 ( = 0.014) was in correlation with the risk of epilepsy. In addition, both rs4667485 and rs1469649 of SCN2A gene were significantly correlated to epilepsy risk for both allelic (4e-4 and 1e-3) and genotypic (1e-3 and 5e-3). Moreover, the haplotype analysis showed that the GATGCTCGGTTTCGCTACGCA haplotype of SCN2A gene was significantly related to epilepsy increased risk, = 6e-3, OR (CI) = 2.02 (1.23-3.31). In relevant to our finding, many of the investigated SCNs variants in the current study were related to several clinical features of epilepsy.
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.
癫痫是一种涉及人类大脑的异质性复杂疾病。癫痫的遗传易感性是该疾病发病机制的基本因素。钠电压门控通道（SCN）基因变异是癫痫发生和发展的关键生物标志物。在这项研究中，我们旨在研究几种 SNC 基因多态性与癫痫风险的关联及其对疾病预后的影响。
在提取 DNA 之前，从 296 名癫痫患者和 293 名健康匹配参与者中抽取血液样本。PCR 测序用于基因分型分析。然后对基因分型结果进行统计分析，以评估基因型/表型。
在 SCN1A 基因中，我们发现 rs6432861（ = 0.014）与癫痫风险相关。此外，SCN2A 基因的 rs4667485 和 rs1469649 均与癫痫风险显著相关，等位基因（4e-4 和 1e-3）和基因型（1e-3 和 5e-3）。此外，单体型分析显示 SCN2A 基因的 GATGCTCGGTTTCGCTACGCA 单体型与癫痫风险增加显著相关， = 6e-3，OR（CI）=2.02（1.23-3.31）。根据我们的发现，本研究中研究的许多 SCNs 变体与癫痫的几种临床特征有关。
鉴于我们的结果，我们推断 SCN 基因多态性是癫痫发生和发展的强有力候选因素。此外，这些变体对疾病的预后和药物治疗效果至关重要。
钠通道 SCN1A、SCN2A 和 SCN3A 的遗传多态性与癫痫风险相关。SCN1B 多态性与癫痫风险降低相关。SCNs 变体参与癫痫的预后和对治疗的反应。
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