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遗传多态性在颞叶癫痫执行功能表现中的作用。

The role of genetic polymorphisms in executive functioning performance in temporal lobe epilepsy.

机构信息

Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA.

Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

出版信息

Epilepsy Behav. 2021 Aug;121(Pt A):108088. doi: 10.1016/j.yebeh.2021.108088. Epub 2021 Jun 5.

Abstract

OBJECTIVE

To explore the role of several genetic polymorphisms (APOE ε4, BDNF Met, and COMT Val) in executive functioning performance in patients with pharmacoresistant temporal lobe epilepsy (TLE).

METHODS

Ninety-three adults (51 female, mean age = 39 years) with TLE completed executive functioning measures as part of a comprehensive preoperative neuropsychological evaluation, including Trail Making Test (Part B), Wisconsin Card Sorting Test (Conceptual Level Responses and Perseverative Errors), Color Word Interference from the Delis Kaplan Executive Function System, and measures of phonemic and semantic verbal fluency. Genotyping of the APOE, BDNF, and COMT genes was conducted using DNA extracted from peripheral blood or brain tissue (from epilepsy surgery).

RESULTS

After adjustment for general cognitive ability, COMT Val carriers showed poorer performance on semantic verbal fluency and color word interference than non-carriers, and BDNF Met carriers showed poorer performance on phonemic verbal fluency than those without a Met allele.

SIGNIFICANCE

Results suggest that COMT and BDNF polymorphisms are associated with performance on several EF measures in patients with TLE, including tasks assessing verbal fluency and response inhibition and account for up to 16% of the variance in test performance. The APOE polymorphism was not significantly associated with any of the executive function measures analyzed.

摘要

目的

探讨几种基因多态性(APOE ε4、BDNF Met 和 COMT Val)在耐药性颞叶癫痫(TLE)患者执行功能表现中的作用。

方法

93 名成年 TLE 患者(51 名女性,平均年龄 39 岁)完成了执行功能测试,作为全面术前神经心理学评估的一部分,包括连线测试(B 部分)、威斯康星卡片分类测试(概念水平反应和持续错误)、Delis-Kaplan 执行功能系统的颜色词语干扰,以及语音和语义流畅性的测试。APOE、BDNF 和 COMT 基因的基因分型是通过从外周血或脑组织(来自癫痫手术)中提取的 DNA 进行的。

结果

在调整了一般认知能力后,COMT Val 携带者在语义流畅性和颜色词语干扰方面的表现差于非携带者,BDNF Met 携带者在语音流畅性方面的表现差于没有 Met 等位基因的携带者。

意义

结果表明,COMT 和 BDNF 多态性与 TLE 患者的几种 EF 测量结果相关,包括评估言语流畅性和反应抑制的任务,并解释了测试表现中高达 16%的变异性。APOE 多态性与分析的任何执行功能测量均无显著相关性。

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