Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany ; LEAD Graduate School, University of Tübingen, Tübingen, Germany.
Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany ; Graduate School of Neural and Behavioral Sciences, University of Tübingen, Tübingen, Germany.
Borderline Personal Disord Emot Dysregul. 2014 May 12;1:6. doi: 10.1186/2051-6673-1-6. eCollection 2014.
Attention-deficit/hyperactivity disorder (ADHD) is a common, early-onset and enduring developmental disorder whose underlying etiological and neurobiological processes are the current focus of major research. Research strategies have made considerable effort in elucidating the complex genetic architecture of ADHD and indicate various pathways from genotype to phenotype. Understanding ADHD as a neuropsychiatric disorder enabled to investigate markers of neural activity as endophenotypes to better explain the link from gene to symptomatology (the so-called imaging genetics approach). Overcoming the originally rather restrictive requirements for an endophenotype, imaging genetics studies are supposed to offer a much more flexible and hypothesis-driven approach towards the etiology of ADHD. Although 1) ADHD often persists into adulthood, thus remaining a prevalent disorder, and 2) imaging genetics provides a promising research approach, a review on imaging genetics in adult ADHD - as available for childhood ADHD (Durston 2010) - is lacking. In this review, therefore, findings from the few available imaging genetics studies in adult ADHD will be summarized and complemented by relevant findings from healthy controls and children with ADHD that are considered important for the adult ADHD imaging genetics approach. The studies will be reviewed regarding implications for basic research and possible practical applications. Imaging genetics studies in adult ADHD have the potential to further clarify pathophysiological pathways and mechanisms, to derive new testable hypotheses, to investigate genetic interaction effects and to partly influence practical applications. In combination with other research strategies, they can incrementally foster the understanding of relevant processes in a more comprehensive way. Current limitations comprise the incapability to discover new genes, a high genetic load in patients potentially obscuring the effect of single candidate genes, the mostly unknown heritability of the endophenotype and the heterogeneous manifestation of ADHD.
注意缺陷多动障碍（ADHD）是一种常见的、早期发病和持续存在的发育障碍，其潜在的病因和神经生物学过程是当前研究的重点。研究策略在阐明 ADHD 的复杂遗传结构方面做出了相当大的努力，并指出了从基因型到表型的各种途径。将 ADHD 理解为一种神经精神障碍，使我们能够研究神经活动的标记物作为内表型，以更好地解释从基因到症状的联系（所谓的影像遗传学方法）。影像遗传学研究克服了对内表型最初相当严格的要求，应该为 ADHD 的病因提供一种更加灵活和假设驱动的方法。尽管 1）ADHD 经常持续到成年，因此仍然是一种流行的疾病，并且 2）影像遗传学提供了一种有前途的研究方法，但缺乏针对成人 ADHD 的影像遗传学综述 - 就像针对儿童 ADHD 的综述一样（Durston 2010）。因此，在本综述中，将总结少数可用的成人 ADHD 影像遗传学研究中的发现，并通过来自健康对照和 ADHD 儿童的相关发现加以补充，这些发现被认为对成人 ADHD 影像遗传学方法很重要。将对这些研究进行回顾，以探讨其对基础研究和可能的实际应用的影响。成人 ADHD 的影像遗传学研究有可能进一步阐明病理生理途径和机制，得出新的可检验假设，研究遗传相互作用效应，并在一定程度上影响实际应用。与其他研究策略相结合，它们可以更全面地逐步促进对相关过程的理解。当前的局限性包括无法发现新基因、患者中潜在的高遗传负荷可能会掩盖单个候选基因的作用、内表型的遗传率大多未知以及 ADHD 的表现异质性。
