@article{59ecb314b4e4451bb11441cbe0f61ec3,
title = "Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder",
abstract = "Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.",
keywords = "Adolescent, Attention Deficit Disorder with Hyperactivity/genetics, Brain/physiology, Child, Child, Preschool, Cohort Studies, Female, Gene Expression Regulation/genetics, Genetic Loci/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study/methods, Humans, Male, Polymorphism, Single Nucleotide/genetics, Risk",
author = "{ADHD Working Group of the Psychiatric Genomics Consortium (PGC)} and {Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium} and {23andMe Research Team} and Ditte Demontis and Walters, {Raymond K} and Joanna Martin and Manuel Mattheisen and Als, {Thomas D} and Esben Agerbo and G{\'i}sli Baldursson and Rich Belliveau and Jonas Bybjerg-Grauholm and Marie B{\ae}kvad-Hansen and Felecia Cerrato and Kimberly Chambert and Claire Churchhouse and Ashley Dumont and Nicholas Eriksson and Michael Gandal and Goldstein, {Jacqueline I} and Grasby, {Katrina L} and Jakob Grove and Gudmundsson, {Olafur O} and Hansen, {Christine S} and Hauberg, {Mads Engel} and Hollegaard, {Mads V} and Howrigan, {Daniel P} and Hailiang Huang and Maller, {Julian B} and Martin, {Alicia R} and Martin, {Nicholas G} and Jennifer Moran and Jonatan Pallesen and Palmer, {Duncan S} and Pedersen, {Carsten B{\o}cker} and Pedersen, {Marianne Gi{\o}rtz} and Timothy Poterba and Poulsen, {Jesper Buchhave} and Stephan Ripke and Robinson, {Elise B} and Satterstrom, {F Kyle} and Hreinn Stefansson and Christine Stevens and Patrick Turley and Walters, {G Bragi} and Hyejung Won and Wright, {Margaret J} and Andreassen, {Ole A} and Philip Asherson and Burton, {Christie L} and Boomsma, {Dorret I} and Bru Cormand and S{\o}ren Dalsgaard and Barbara Franke and Joel Gelernter and Daniel Geschwind and Hakon Hakonarson and Jan Haavik and Kranzler, {Henry R.} and Jonna Kuntsi and Kate Langley and Klaus-Peter Lesch and Christel Middeldorp and Andreas Reif and Rohde, {Luis Augusto} and Panos Roussos and Russell Schachar and Pamela Sklar and Sonuga-Barke, {Edmund J. S.} and Sullivan, {Patrick S.} and Anita Thapar and Tung, {Joyce Y.} and Waldman, {Irwin D.} and Medland, {Sarah E.} and Kari Stefansson and Merete Nordentoft and Hougaard, {David M.} and Thomas Werge and Ole Mors and Mortensen, {Preben Bo} and Daly, {Mark J.} and Faraone, {Stephen V.} and B{\o}rglum, {Anders D.} and Neale, {Benjamin M.} and Lindsey Kent",
year = "2019",
month = jan,
doi = "10.1038/s41588-018-0269-7",
language = "English",
volume = "51",
pages = "63--75",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature publishing group",
number = "1",
}