Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5–10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Studies are converging on a number of key insights. First, ADHD is a highly polygenic NDD with a complex genetic architecture encompassing risk variants across the spectrum of allelic frequencies, which are implicated in neurobiological processes. Second, genetic studies strongly suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, with shared genetic risks also seen across development and sex. Third, ADHD genetic risks are shared with those implicated in many other neurodevelopmental, psychiatric and somatic phenotypes. As sample sizes and the diversity of genetic studies continue to increase through international collaborative efforts, we anticipate further success with gene discovery, characterization of how the ADHD phenotype relates to other human traits and growing potential to use genomic risk factors for understanding clinical trajectories and for precision medicine approaches.

中文翻译：

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从最近的基因研究中洞察注意力缺陷/多动障碍

注意缺陷/多动障碍（ADHD）是一种常见且高度遗传的神经发育障碍（NDD）。在这篇叙述性综述中，我们总结了过去 5-10 年定量和分子遗传学研究的最新进展。结合大规模的国际合作，这些进展导致在了解 ADHD 的病因以及遗传风险因素如何映射到临床异质性方面取得了快速进展。研究正在集中在一些关键的见解上。首先，ADHD 是一种高度多基因的 NDD，具有复杂的遗传结构，包括跨等位基因频率谱的风险变异，这些变异与神经生物学过程有关。第二，遗传研究强烈表明，ADHD 诊断与人群中持续分布的 ADHD 特征具有很大比例的遗传风险，在发育和性别方面也存在共同的遗传风险。第三，ADHD 遗传风险与许多其他神经发育、精神和体细胞表型有关。随着样本量和遗传研究的多样性通过国际合作不断增加，我们预计在基因发现、ADHD 表型如何与其他人类特征相关的表征以及使用基因组风险因素了解临床轨迹和精准医学方法。ADHD 遗传风险与许多其他神经发育、精神和体细胞表型有关。随着样本量和遗传研究的多样性通过国际合作不断增加，我们预计在基因发现、ADHD 表型如何与其他人类特征相关的表征以及使用基因组风险因素了解临床轨迹和精准医学方法。ADHD 遗传风险与许多其他神经发育、精神和体细胞表型有关。随着样本量和遗传研究的多样性通过国际合作不断增加，我们预计在基因发现、ADHD 表型如何与其他人类特征相关的表征以及使用基因组风险因素了解临床轨迹和精准医学方法。