The potential implication of MDR1 and NAC1 genetic polymorphisms on resistance to antiepileptic drugs among a Jordanian epileptic population: a cross-sectional study.

IF 1.2 4区医学 Q2 ANTHROPOLOGY

Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2173291

Rami Abduljabbar, Duaa Eid Tamimi, Al-Motassem Yousef

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引用次数: 0

Abstract

Background: Resistance to antiepileptic drugs (AEDs) remains one of the main challenges to neurologists. Polymorphisms of drug efflux transporters such as multidrug resistance (MDR1) gene and target sites such as the nucleus accumbens-associated 1 (NAC1) gene have been suggested to influence the responsiveness to treatment.

Aim: Evaluation of the association of MDR1 and NAC1 polymorphisms with AEDs resistance among Jordanian epileptic patients.

Subjects and methods: 86 Jordanian epileptics were included in the study. DNA was extracted and genotyping was conducted by polymerase chain reaction followed by sequencing. Nine single nucleotide polymorphisms (SNPs) on the MDR1 gene and six SNPs on the NAC1 gene were investigated.

Results: MDR1 and NAC1 polymorphisms don't seem to influence the resistance to AEDs at the genotype or allele level. However, a strong association was found between MDR1 rs2032588 (OR = 5; 95%CI = [1.3-18.8], p = 0.01) and AEDs resistance among males at the allele level. Also, data revealed an association between MDR1 rs1128503 and AEDs resistance among females at the allele level.

Conclusion: The data suggest that MDR1 and NAC1 polymorphisms do not influence the AEDs resistance among Jordanian epileptics. However, there is a gender-dependent association between MDR1 polymorphisms and resistance to AEDs at two SNPs (rs2032588 and rs1128503).

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MDR1和NAC1基因多态性对约旦癫痫人群抗癫痫药物耐药性的潜在影响:一项横断面研究。

背景:抗癫痫药物(AEDs)耐药性仍然是神经科医生面临的主要挑战之一。药物外排转运体如多药耐药基因(MDR1)和靶位点如伏隔核相关基因(NAC1)的多态性被认为会影响对治疗的反应性。目的:探讨MDR1和NAC1基因多态性与约旦癫痫患者抗癫痫药耐药性的关系。对象和方法:86例约旦癫痫患者纳入研究。提取DNA，用聚合酶链反应进行基因分型，测序。研究了MDR1基因上的9个单核苷酸多态性和NAC1基因上的6个单核苷酸多态性。结果:MDR1和NAC1多态性在基因型和等位基因水平上对AEDs的抗性似乎没有影响。然而，MDR1 rs2032588 (OR = 5;95%CI = [1.3 ~ 18.8]， p = 0.01)和雄性抗AEDs等位基因水平的差异。此外，数据显示MDR1 rs1128503与雌性aed抗性在等位基因水平上存在关联。结论:MDR1和NAC1基因多态性不影响约旦癫痫患者抗癫痫药耐药性。然而，在两个snp位点(rs2032588和rs1128503)上，MDR1多态性与抗AEDs之间存在性别依赖的关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生

CiteScore

3.40

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.