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注意缺陷多动障碍的候选基因研究。

Candidate gene studies of attention-deficit/hyperactivity disorder.

作者信息

Faraone Stephen V, Khan Sajjad A

机构信息

Medical Genetics Research Program and Department of Psychiatry, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

出版信息

J Clin Psychiatry. 2006;67 Suppl 8:13-20.

Abstract

A growing body of behavioral and molecular genetics literature has indicated that the development of attention-deficit/hyperactivity disorder (ADHD) may be attributed to both genetic and environmental factors. Family, twin, and adoption studies provide compelling evidence that genes play a strong role in mediating susceptibility to ADHD. Molecular genetic studies suggest that the genetic architecture of ADHD is complex, while the handful of genome-wide scans conducted thus far is not conclusive. In contrast, the many candidate gene studies of ADHD have produced substantial evidence implicating several genes in the etiology of the disorder. For the 8 genes for which the same variant has been studied in 3 or more case-control or family-based studies, 7 show statistically significant evidence of association with ADHD based on pooled odds ratios across studies: the dopamine D4 receptor gene (DRD4), the dopamine D5 receptor gene (DRD5), the dopamine transporter gene (DAT), the dopamine beta-hydroxylase gene (DBH), the serotonin transporter gene (5-HTT), the serotonin receptor 1B gene (HTR1B), and the synaptosomal-associated protein 25 gene (SNAP25). Recent pharmacogenetic studies have correlated treatment nonresponse with particular gene markers, while preclinical studies have increased our understanding of gene expression paradigms and potential analogs for human trials. This literature review discusses the relevance and implications of genetic associations with ADHD for clinical practice and future research.

摘要

越来越多的行为遗传学和分子遗传学文献表明,注意力缺陷多动障碍(ADHD)的发展可能归因于遗传和环境因素。家族、双胞胎和收养研究提供了令人信服的证据,证明基因在介导ADHD易感性方面起着重要作用。分子遗传学研究表明,ADHD的遗传结构很复杂,而迄今为止进行的少数全基因组扫描尚无定论。相比之下,许多关于ADHD的候选基因研究已经产生了大量证据,表明有几个基因与该疾病的病因有关。对于在3项或更多病例对照或基于家族的研究中研究了相同变异的8个基因,基于各研究的合并比值比,7个基因显示出与ADHD相关的统计学显著证据:多巴胺D4受体基因(DRD4)、多巴胺D5受体基因(DRD5)、多巴胺转运体基因(DAT)、多巴胺β-羟化酶基因(DBH)、5-羟色胺转运体基因(5-HTT)、5-羟色胺受体1B基因(HTR1B)和突触体相关蛋白25基因(SNAP25)。最近的药物遗传学研究将治疗无反应与特定的基因标记相关联,而临床前研究增进了我们对基因表达模式和人体试验潜在类似物的理解。这篇文献综述讨论了与ADHD相关的基因关联对临床实践和未来研究的相关性及意义。

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