埃及癫痫儿童 CYP2D6(*2/*4/*10) 基因变异的潜在影响：一项初步研究。
The potential impact of CYP2D6 (*2/*4/*10) gene variants among Egyptian epileptic children: A preliminary study.
机构信息
Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt.
Department of Chemistry, Biochemistry Division, Faculty of Science, Damietta University, New Damietta, Egypt.
出版信息
Gene. 2022 Jul 20;832:146585. doi: 10.1016/j.gene.2022.146585. Epub 2022 May 18.
BACKGROUND
The cytochrome P450 (CYP) isoenzymes have an indispensable role in the metabolic phase of different medications during the treatment of multiple neuropsychiatric disorders. The foremost goal of this study is to evaluate the correlation of the allelic variants within CYP2D6 (*2/*4/*10) gene with the susceptibility for epileptic syndrome as well as the assessment the degree of resistance towards antiepileptic drugs (AEDs).
METHODS
This work was designed based on the involvement of 200 participants [100 unrelated healthy controls, 50 AEDs responsive, and 50 AEDs resistant]. Genomic DNA for the CYP2D6 variants was genotyped utilizing the T-ARMS-PCR technique.
RESULTS
The distributions of the CYP2D62 (rs16947; c.886C > T) and CYP2D64 (rs3892097; c.506-1G > A) variants were significantly correlated with elevated risk among epileptic patients compared to healthy controls (P-value < 0.05). Furthermore, the CYP2D62 variant was statistically associated with disease risk among AEDs responsive patients, while the CYP2D64 variant was statistically correlated with disease risk among AEDs resistant patients (P-value < 0.05). Interestingly, the allelic variants of the CYP2D64 (A allele) and CYP2D610 (T allele) were associated with elevated risk among AEDs resistant compared to AEDs responsive patients (P-value = 0.008 and 0.040, respectively).
CONCLUSIONS
The CYP2D62 and CYP2D64 variants were recognized as independent risk factors among epileptic patients, but not the CYP2D6*10 variant.
背景
细胞色素 P450（CYP）同工酶在治疗多种神经精神疾病时，对不同药物的代谢阶段具有不可或缺的作用。本研究的首要目标是评估 CYP2D6（*2/*4/*10）基因中的等位基因变体与癫痫综合征易感性的相关性，以及评估抗癫痫药物（AEDs）的耐药程度。
方法
本工作基于 200 名参与者的参与[100 名无关健康对照、50 名 AED 反应性和 50 名 AED 耐药性]。使用 T-ARMS-PCR 技术对 CYP2D6 变体的基因组 DNA 进行基因分型。
结果
与健康对照组相比，CYP2D62（rs16947；c.886C>T）和 CYP2D64（rs3892097；c.506-1G>A）变体的分布在癫痫患者中与风险升高显著相关（P 值<0.05）。此外，CYP2D62 变体与 AED 反应性患者的疾病风险具有统计学相关性，而 CYP2D64 变体与 AED 耐药性患者的疾病风险具有统计学相关性（P 值<0.05）。有趣的是，CYP2D64（A 等位基因）和 CYP2D610（T 等位基因）的等位基因变体与 AED 耐药性患者的风险升高相关，而与 AED 反应性患者相比（P 值分别为 0.008 和 0.040）。
结论
CYP2D62 和 CYP2D64 变体被认为是癫痫患者的独立危险因素，但 CYP2D6*10 变体不是。
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