ABCB1 c.3435C b> T (rs1045642)作为卡马西平在阿尔及利亚癫痫患者疗效和毒性的生物标志物:初步研究报告

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Rachda Riffi, Wefa Boughrara, Meriem Samia Aberkane, Wassila Ilias, Mohamed Sofiane Bouchetara, Amel Alioua Berrebbah, Fatma Belhoucine, Amina Chentouf
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引用次数: 0

摘要

癫痫是最普遍的严重神经系统疾病之一,影响到全世界7000多万人。在阿尔及利亚,癫痫的患病率估计是阿尔及利亚的8倍。卡马西平通常是一线治疗,因此早期预测患者的反应对于个性化护理至关重要。这种方法有助于减少不良影响和医疗保健成本,同时提高患者的治疗效果。本研究旨在探讨ABCB1 c.3435C > T遗传变异与阿尔及利亚癫痫患者卡马西平耐药性和毒性之间的联系,重点关注遗传变异对卡马西平血药浓度和治疗结果的影响。招募了98名阿尔及利亚癫痫患者,并根据其对CBZ治疗的临床反应将其分为药物反应性或耐药性。ABCB1 c.3435的基因分型采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测C > T多态性,并测定CBZ血浆水平以评估其对代谢的影响。收集和分析临床资料,包括药物反应、治疗类型、药物不良反应(adr)。对于统计分析,我们使用卡方检验和精确费雪检验进行修正。我们的研究结果显示ABCB1 c.3435C > T基因型与卡马西平耐药和不良反应发生率之间没有显著关联(p = 0,1)。这种多态性也表明与卡马西平血浆水平无统计学意义的联系。本研究的样本量可能有限;因此,需要扩大对阿尔及利亚人口的调查。虽然本研究表明ABCB1 c.3435C > T多态性与影响CBZ耐药和治疗结果没有显著相关性,但需要更大规模的研究来证实这些结果并评估其可靠性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report.

Epilepsy is among the most prevalent serious neurological disorders, affecting over 70 million people worldwide, in Algeria, the prevalence of epilepsy was estimated to be eight times more common. Carbamazepine is frequently the first-line treatment, making early prediction of patient response essential for personalized care. This approach helps reduce adverse effects and healthcare costs, while enhancing patient outcomes. This study aims to explore the link between the ABCB1 c.3435C > T genetic variation and Carbamazepine resistance and toxicity in Algerian patients with epilepsy, with a focus on the impact of genetic variations on Carbamazepine plasma concentrations and treatment outcomes. Ninety-eight Algerian patients with epilepsy were recruited and categorized as either drug-responsive or drug-resistant based on their clinical response to CBZ treatment. Genotyping of the ABCB1 c.3435 C > T polymorphism was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method, and CBZ plasma levels were measured to assess its effect on metabolism. Clinical data, including drug response, therapy type, and adverse drug reactions (ADRs), were collected and analyzed. For the statistical analysis we used chi-squared tests and Exact Fisher's for corrections. Our findings show no significant association between the ABCB1 c.3435C > T genotypes with carbamazepine resistance (p = 0,1) nor incidence of adverse reactions. This polymorphism also indicated no statistically significant link with Carbamazepine plasma levels. The sample size in this study might be limitation; therefore, expanded investigations on Algerian population are needed. Although this study indicates no significant correlation of the ABCB1 c.3435C > T polymorphism with influencing CBZ Pharmacoresistance and therapeutic outcomes, larger-scale-studies are required to confirm these results and assess their reliability.

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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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