Thapar A, Langley K, O'donovan M, Owen M
Department of Psychological Medicine, Cardiff University, School of Medicine, Heath Park, Cardiff, Wales, UK.
Mol Psychiatry. 2006 Aug;11(8):714-20. doi: 10.1038/sj.mp.4001831. Epub 2006 May 16.
It is well established that attention deficit hyperactivity disorder (ADHD) is a familial and highly heritable disorder. Consequently, much effort is being directed towards searching for specific susceptibility genes. There is a growing trend, across the field of complex disease genetics, towards undertaking secondary analyses based on refined phenotypic definitions and in testing whether specific susceptibility genes modify the phenotypic presentation of the disorder in question. It is crucial that good, empirically derived arguments are made before undertaking multiple analyses on different phenotype refinements. In this review article, we consider the evidence from genetic epidemiological studies as well as key clinical studies that provide guidance on examining the ADHD phenotype for the purpose of molecular genetic studies. Specifically, findings on categorical versus dimensional conceptualisations of ADHD, reporter effects, comorbidity, ADHD subtypes and persistence are reviewed. Current evidence suggests that for the purpose of identifying susceptibility genes for ADHD, parent and teachers should be used as informants and that focusing on the clinical diagnosis of ADHD is useful. There is also good empirical support in favour of examining antisocial behaviour in ADHD. Genetic studies of dimensional ADHD are useful for other complementary purposes.
注意缺陷多动障碍（ADHD）是一种具有家族遗传性且遗传度很高的疾病，这一点已得到充分证实。因此，人们正投入大量精力寻找特定的易感基因。在复杂疾病遗传学领域，基于精确的表型定义进行二次分析以及测试特定的易感基因是否会改变相关疾病的表型表现，这种趋势日益明显。在对不同的表型细化进行多次分析之前，提出充分的、基于实证的论据至关重要。在这篇综述文章中，我们考量了遗传流行病学研究以及关键临床研究的证据，这些研究为分子遗传学研究中ADHD表型的检测提供了指导。具体而言，我们回顾了关于ADHD的分类与维度概念化、报告者效应、共病、ADHD亚型及持续性的研究结果。目前的证据表明，为了确定ADHD的易感基因，应以父母和教师作为信息提供者，专注于ADHD的临床诊断是有用的。对于在ADHD中研究反社会行为也有充分的实证支持。维度性ADHD的遗传学研究对于其他补充目的很有用。
