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[注意缺陷多动障碍的基因组内表型]

[Genomic endophenotypes of attention deficit hyperactivity disorder].

作者信息

Fernández-Jaén Alberto, Fernández-Mayoralas Daniel Martín, Calleja-Pérez Beatriz, Muñoz-Jareño Nuria, López-Arribas Sonia

机构信息

Hospital Universitario Quirón, Diego de Velázquez 1, Pozuelo de Alarcón, Madrid, Spain.

出版信息

Rev Neurol. 2012 Feb 29;54 Suppl 1:S81-7.

Abstract

Attention deficit hyperactivity disorder (ADHD) is a remarkably heterogeneous neurobiological disorder. This characteristic is aetiologically mediated by genetic and environmental factors. Numerous studies have shown that different genes play a moderate but complex role in the aetiology of ADHD. Significant associations have been identified with several candidate genes for this disorder, including DAT1, DRD4, DRD5, 5HTT, HTR1B or SNAP25. The neurocognitive models of ADHD have been largely based on the findings from neuroimaging studies conducted in patients with ADHD, when establishing hypotheses capable of explaining the clinical features that are observed. From a neurobiological point of view, the genetic architecture of these patients or the interaction of the above-mentioned genes should at least partially account for the neuroanatomical and neuropsychological findings observed, which explains the axiomatic antithesis in the title. Nevertheless, the results of studies into the relationship between the genotyping and the neuroimaging or psychological findings are scarce and contradictory. The methodological differences in the volumetric analyses, the sizes of the populations studied, the neuropsychological batteries that are used, the presence of previous pharmacological treatment or comorbidity could account for these results.

摘要

注意力缺陷多动障碍(ADHD)是一种具有显著异质性的神经生物学疾病。这一特征在病因学上由遗传和环境因素介导。大量研究表明,不同基因在ADHD的病因学中发挥着适度但复杂的作用。已确定该疾病与多个候选基因存在显著关联,包括多巴胺转运体1(DAT1)、多巴胺受体D4(DRD4)、多巴胺受体D5(DRD5)、5-羟色胺转运体(5HTT)、5-羟色胺受体1B(HTR1B)或突触小体相关蛋白25(SNAP25)。ADHD的神经认知模型在很大程度上基于对ADHD患者进行的神经影像学研究结果,以此建立能够解释所观察到的临床特征的假设。从神经生物学角度来看,这些患者的遗传结构或上述基因的相互作用应至少部分解释所观察到的神经解剖学和神经心理学结果,这也解释了标题中自相矛盾的说法。然而,关于基因分型与神经影像学或心理学结果之间关系的研究结果稀少且相互矛盾。体积分析中的方法学差异、所研究人群的规模、所使用的神经心理测试组、既往药物治疗或共病的存在都可能导致这些结果。

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