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

Published online by Cambridge University Press:  05 April 2021

Isabell Brikell ,
Christie Burton ,
Nina Roth Mota Open the ORCID record for Nina Roth Mota [Opens in a new window]  and
Joanna Martin Open the ORCID record for Joanna Martin [Opens in a new window]
Isabell Brikell
Affiliation:
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden National Centre for Register-based Research, Department of Economics and Business Economics, Aarhus University, Aarhus, Denmark
Christie Burton
Affiliation:
Neurosciences and Mental Health, Hospital for Sick Children, Toronto, Canada
Nina Roth Mota
Affiliation:
Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
Joanna Martin*
Affiliation:
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK
*
Author for correspondence: Joanna Martin, E-mail: martinjm1@cardiff.ac.uk
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Abstract

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.

Keywords

ADHDgeneticstwin studiesGWAS
Type
Invited Review
Information
Psychological Medicine , Volume 51 , Special Issue 13: Updates on the Genetics of Major Psychiatric Disorders by Early Career Investigators from the Psychiatric Genomics Consortium , October 2021 , pp. 2274 - 2286
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Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press

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