Literature DB >> 36163277

Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups.

Manuel Mattheisen1,2,3, Jakob Grove4,5,6,7, Thomas D Als4,5,6, Joanna Martin8, Georgios Voloudakis9,10,11, Sandra Meier4,12, Ditte Demontis4,5,6, Jaroslav Bendl9,10,11, Raymond Walters13,14, Caitlin E Carey13,14, Anders Rosengren5,15, Nora I Strom4,16,17, Mads Engel Hauberg9,10,11, Biao Zeng9,10,11, Gabriel Hoffman9,10,11, Wen Zhang9,10,11, Jonas Bybjerg-Grauholm5,18, Marie Bækvad-Hansen5,18, Esben Agerbo5,19,20, Bru Cormand21,22,23,24, Merete Nordentoft5,25,26,27, Thomas Werge5,15,25,28, Ole Mors5,29, David M Hougaard5,18, Joseph D Buxbaum11,30,31,32, Stephen V Faraone33,34, Barbara Franke35,36, Søren Dalsgaard19, Preben B Mortensen5,6,19,20, Elise B Robinson13,14,37, Panos Roussos9,10,11,32,38, Benjamin M Neale13,14, Mark J Daly13,14,39,40, Anders D Børglum41,42,43.   

Abstract

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable neurodevelopmental conditions, with considerable overlap in their genetic etiology. We dissected their shared and distinct genetic etiology by cross-disorder analyses of large datasets. We identified seven loci shared by the disorders and five loci differentiating them. All five differentiating loci showed opposite allelic directions in the two disorders and significant associations with other traits, including educational attainment, neuroticism and regional brain volume. Integration with brain transcriptome data enabled us to identify and prioritize several significantly associated genes. The shared genomic fraction contributing to both disorders was strongly correlated with other psychiatric phenotypes, whereas the differentiating portion was correlated most strongly with cognitive traits. Additional analyses revealed that individuals diagnosed with both ASD and ADHD were double-loaded with genetic predispositions for both disorders and showed distinctive patterns of genetic association with other traits compared with the ASD-only and ADHD-only subgroups. These results provide insights into the biological foundation of the development of one or both conditions and of the factors driving psychopathology discriminatively toward either ADHD or ASD.
© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.

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Year:  2022        PMID： 36163277     DOI： 10.1038/s41588-022-01171-3

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   41.307


  85 in total

1.  The Heritability of Autism Spectrum Disorder.

Authors:  Sven Sandin; Paul Lichtenstein; Ralf Kuja-Halkola; Christina Hultman; Henrik Larsson; Abraham Reichenberg
Journal:  JAMA       Date:  2017-09-26       Impact factor: 56.272

Review 2.  A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-deficit/hyperactivity disorder and facilitate the search for pleiotropic genes.

Authors:  Nanda N J Rommelse; Hilde M Geurts; Barbara Franke; Jan K Buitelaar; Catharina A Hartman
Journal:  Neurosci Biobehav Rev       Date:  2011-03-04       Impact factor: 8.989

3.  Incidence Rates and Cumulative Incidences of the Full Spectrum of Diagnosed Mental Disorders in Childhood and Adolescence.

Authors:  Søren Dalsgaard; Erla Thorsteinsson; Betina B Trabjerg; Jörg Schullehner; Oleguer Plana-Ripoll; Isabell Brikell; Theresa Wimberley; Malene Thygesen; Kathrine Bang Madsen; Allan Timmerman; Diana Schendel; John J McGrath; Preben Bo Mortensen; Carsten B Pedersen
Journal:  JAMA Psychiatry       Date:  2020-02-01       Impact factor: 21.596

4.  Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Authors:  Ditte Demontis; Raymond K Walters; Joanna Martin; Manuel Mattheisen; Thomas D Als; Esben Agerbo; Gísli Baldursson; Rich Belliveau; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Claire Churchhouse; Ashley Dumont; Nicholas Eriksson; Michael Gandal; Jacqueline I Goldstein; Katrina L Grasby; Jakob Grove; Olafur O Gudmundsson; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Daniel P Howrigan; Hailiang Huang; Julian B Maller; Alicia R Martin; Nicholas G Martin; Jennifer Moran; Jonatan Pallesen; Duncan S Palmer; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy Poterba; Jesper Buchhave Poulsen; Stephan Ripke; Elise B Robinson; F Kyle Satterstrom; Hreinn Stefansson; Christine Stevens; Patrick Turley; G Bragi Walters; Hyejung Won; Margaret J Wright; Ole A Andreassen; Philip Asherson; Christie L Burton; Dorret I Boomsma; Bru Cormand; Søren Dalsgaard; Barbara Franke; Joel Gelernter; Daniel Geschwind; Hakon Hakonarson; Jan Haavik; Henry R Kranzler; Jonna Kuntsi; Kate Langley; Klaus-Peter Lesch; Christel Middeldorp; Andreas Reif; Luis Augusto Rohde; Panos Roussos; Russell Schachar; Pamela Sklar; Edmund J S Sonuga-Barke; Patrick F Sullivan; Anita Thapar; Joyce Y Tung; Irwin D Waldman; Sarah E Medland; Kari Stefansson; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Mark J Daly; Stephen V Faraone; Anders D Børglum; Benjamin M Neale
Journal:  Nat Genet       Date:  2018-11-26       Impact factor: 38.330

5.  Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants.

Authors:  Joanna Martin; Miriam Cooper; Marian L Hamshere; Andrew Pocklington; Stephen W Scherer; Lindsey Kent; Michael Gill; Michael J Owen; Nigel Williams; Michael C O'Donovan; Anita Thapar; Peter Holmans
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2014-04-21       Impact factor: 8.829

6.  Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.

Authors:  F Kyle Satterstrom; Raymond K Walters; Tarjinder Singh; Emilie M Wigdor; Francesco Lescai; Ditte Demontis; Jack A Kosmicki; Jakob Grove; Christine Stevens; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Duncan S Palmer; Julian B Maller; Merete Nordentoft; Ole Mors; Elise B Robinson; David M Hougaard; Thomas M Werge; Preben Bo Mortensen; Benjamin M Neale; Anders D Børglum; Mark J Daly
Journal:  Nat Neurosci       Date:  2019-11-25       Impact factor: 24.884

7.  Identification of common genetic risk variants for autism spectrum disorder.

Authors:  Jakob Grove; Stephan Ripke; Thomas D Als; Manuel Mattheisen; Raymond K Walters; Hyejung Won; Jonatan Pallesen; Esben Agerbo; Ole A Andreassen; Richard Anney; Swapnil Awashti; Rich Belliveau; Francesco Bettella; Joseph D Buxbaum; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Jane H Christensen; Claire Churchhouse; Karin Dellenvall; Ditte Demontis; Silvia De Rubeis; Bernie Devlin; Srdjan Djurovic; Ashley L Dumont; Jacqueline I Goldstein; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Sigrun Hope; Daniel P Howrigan; Hailiang Huang; Christina M Hultman; Lambertus Klei; Julian Maller; Joanna Martin; Alicia R Martin; Jennifer L Moran; Mette Nyegaard; Terje Nærland; Duncan S Palmer; Aarno Palotie; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy dPoterba; Jesper Buchhave Poulsen; Beate St Pourcain; Per Qvist; Karola Rehnström; Abraham Reichenberg; Jennifer Reichert; Elise B Robinson; Kathryn Roeder; Panos Roussos; Evald Saemundsen; Sven Sandin; F Kyle Satterstrom; George Davey Smith; Hreinn Stefansson; Stacy Steinberg; Christine R Stevens; Patrick F Sullivan; Patrick Turley; G Bragi Walters; Xinyi Xu; Kari Stefansson; Daniel H Geschwind; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Benjamin M Neale; Mark J Daly; Anders D Børglum
Journal:  Nat Genet       Date:  2019-02-25       Impact factor: 38.330

8.  Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls.

Authors:  E Pettersson; P Lichtenstein; H Larsson; J Song; A Agrawal; A D Børglum; C M Bulik; M J Daly; L K Davis; D Demontis; H J Edenberg; J Grove; J Gelernter; B M Neale; A F Pardiñas; E Stahl; J T R Walters; R Walters; P F Sullivan; D Posthuma; T J C Polderman
Journal:  Psychol Med       Date:  2018-09-17       Impact factor: 7.723

Review 9.  Genetics of attention deficit hyperactivity disorder.

Authors:  Stephen V Faraone; Henrik Larsson
Journal:  Mol Psychiatry       Date:  2018-06-11       Impact factor: 15.992

10.  Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.

Authors:  Hyejung Won; Jason L Stein; Nana Matoba; Dan Liang; Huaigu Sun; Nil Aygün; Jessica C McAfee; Jessica E Davis; Laura M Raffield; Huijun Qian; Joseph Piven; Yun Li; Sriam Kosuri
Journal:  Transl Psychiatry       Date:  2020-08-03       Impact factor: 6.222
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