Genetics Department, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Am J Med Genet B Neuropsychiatr Genet. 2014 Jun;165B(4):263-82. doi: 10.1002/ajmg.b.32240. Epub 2014 May 8.
Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous disorder, affecting individuals across the life cycle. Although its etiology is not yet completely understood, genetics plays a substantial role. Pharmacological treatment is considered effective and safe for children and adults, but there is considerable inter-individual variability among patients regarding response to medication, required doses, and adverse events. We present here a systematic review of the literature on ADHD pharmacogenetics to provide a critical discussion of the existent findings, new approaches, limitations, and recommendations for future research. Our main findings are: first, the number of studies continues to grow, making ADHD one of the mental health areas with more pharmacogenetic studies. Second, there has been a focus shift on ADHD pharmacogenetic studies in the last years. There is an increasing number of studies assessing gene-gene and gene-environment interactions, using genome-wide association approaches, neuroimaging, and assessing pharmacokinetic properties. Third and most importantly, the heterogeneity in methodological strategies employed by different studies remains impressive. The question whether pharmacogenetics studies of ADHD will improve clinical management by shifting from trial-and-error approach to a pharmacological regimen that takes into account the individual variability remains unanswered. © 2014 Wiley Periodicals, Inc.
注意缺陷多动障碍(ADHD)是一种复杂的异质性疾病,影响整个生命周期的个体。尽管其病因尚未完全了解,但遗传学起着重要作用。药物治疗被认为对儿童和成人有效且安全,但患者对药物的反应、所需剂量和不良反应存在相当大的个体差异。我们在这里对 ADHD 药物遗传学的文献进行了系统回顾,对现有发现、新方法、局限性以及对未来研究的建议进行了批判性讨论。我们的主要发现是:第一,研究数量持续增加,使 ADHD 成为精神健康领域中进行药物遗传学研究最多的领域之一。第二,近年来 ADHD 药物遗传学研究的重点发生了转移。越来越多的研究评估基因-基因和基因-环境相互作用,使用全基因组关联方法、神经影像学,并评估药代动力学特性。第三也是最重要的一点,不同研究采用的方法策略的异质性仍然令人印象深刻。药物遗传学研究是否能通过从试错方法转变为考虑个体差异的药物治疗方案来改善 ADHD 的临床管理,这一问题仍未得到解答。©2014 年 Wiley 期刊出版公司