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和基因多态性对约旦癫痫患者群体对抗癫痫药物耐药性的潜在影响:一项横断面研究。

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

机构信息

Department of Biopharmaceutics and Clinical Pharmacy, School of Pharmacy, The University of Jordan, Amman, Jordan.

Department of Pharmacology, School of Medicine, The University of Jordan, Amman, Jordan.

出版信息

Ann Hum Biol. 2023 Feb;50(1):82-93. doi: 10.1080/03014460.2023.2173291.

Abstract

BACKGROUND

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

AIM

Evaluation of the association of and 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 gene and six SNPs on the gene were investigated.

RESULTS

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

CONCLUSION

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

摘要

背景

抗癫痫药物(AEDs)耐药仍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)和靶点(如伏核相关 1 基因)的多态性被认为会影响治疗反应。

目的

评估约旦癫痫患者中 和 多态性与 AEDs 耐药的相关性。

受试者和方法

本研究纳入了 86 例约旦癫痫患者。提取 DNA 并通过聚合酶链反应(PCR)测序进行基因分型。研究调查了 基因上的 9 个单核苷酸多态性(SNPs)和 基因上的 6 个 SNPs。

结果

和 多态性似乎不会影响 AEDs 耐药的基因型或等位基因水平。然而,在等位基因水平上, rs2032588(OR = 5;95%CI = [1.3-18.8],  = 0.01)与男性 AEDs 耐药之间存在很强的关联。此外,数据显示 rs1128503 与女性 AEDs 耐药之间存在关联。

结论

数据表明 和 多态性不会影响约旦癫痫患者的 AEDs 耐药性。然而,在两个 SNPs(rs2032588 和 rs1128503)上, 多态性与 AEDs 耐药之间存在性别依赖性关联。

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