4.7 Review

Insights into attention-deficit/hyperactivity disorder from recent genetic studies

Journal

PSYCHOLOGICAL MEDICINE
Volume 51, Issue 13, Pages 2274-2286

Publisher

CAMBRIDGE UNIV PRESS
DOI: 10.1017/S0033291721000982

Keywords

ADHD; genetics; twin studies; GWAS

Funding

  1. Swedish Brain Foundation
  2. Canadian Institute of Health Research
  3. European Community [667302]
  4. Dutch National Science Agenda NeurolabNL project [400-17-602]
  5. Ser Cymru II COFUND Fellowship from the Welsh Government [663830 - CU189]

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ADHD is a common and highly heritable neurodevelopmental disorder, with recent research showing a complex genetic architecture involving multiple genes and neurobiological processes. Genetic studies suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, as well as with genetic risks implicated in other neurodevelopmental, psychiatric, and somatic phenotypes.
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.

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