Identification of common genetic risk variants for autism spectrum disorder

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Identification of common genetic risk variants for autism spectrum disorder. / Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium.

I: Nature Genetics, Bind 51, Nr. 3, 03.2019, s. 431-444.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium 2019, 'Identification of common genetic risk variants for autism spectrum disorder', Nature Genetics, bind 51, nr. 3, s. 431-444. https://doi.org/10.1038/s41588-019-0344-8

APA

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51(3), 431-444. https://doi.org/10.1038/s41588-019-0344-8

Vancouver

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium. Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics. 2019 mar.;51(3):431-444. https://doi.org/10.1038/s41588-019-0344-8

Author

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium. / Identification of common genetic risk variants for autism spectrum disorder. I: Nature Genetics. 2019 ; Bind 51, Nr. 3. s. 431-444.

Bibtex

@article{b9262ecf48534311a5eed2eb0f190aea,
title = "Identification of common genetic risk variants for autism spectrum disorder",
abstract = "Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.",
keywords = "Adolescent, Autism Spectrum Disorder/genetics, Case-Control Studies, Child, Child, Preschool, Denmark, Female, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study/methods, Humans, Male, Multifactorial Inheritance/genetics, Phenotype, Polymorphism, Single Nucleotide/genetics, Risk Factors",
author = "Jakob Grove and Stephan Ripke and Als, {Thomas D} and Manuel Mattheisen and Walters, {Raymond K} and Hyejung Won and Jonatan Pallesen and Esben Agerbo and Andreassen, {Ole A} and Richard Anney and Swapnil Awashti and Rich Belliveau and Francesco Bettella and Buxbaum, {Joseph D} and Jonas Bybjerg-Grauholm and Marie B{\ae}kvad-Hansen and Felecia Cerrato and Kimberly Chambert and Christensen, {Jane H} and Claire Churchhouse and Karin Dellenvall and Ditte Demontis and {De Rubeis}, Silvia and Bernie Devlin and Srdjan Djurovic and Dumont, {Ashley L} and Goldstein, {Jacqueline I} and Hansen, {Christine S} and Hauberg, {Mads Engel} and Hollegaard, {Mads V} and Sigrun Hope and Howrigan, {Daniel P} and Hailiang Huang and Hultman, {Christina M} and Lambertus Klei and Julian Maller and Joanna Martin and Martin, {Alicia R} and Moran, {Jennifer L} and Mette Nyegaard and Terje N{\ae}rland and Palmer, {Duncan S} and Aarno Palotie and Pedersen, {Carsten B{\o}cker} and Pedersen, {Marianne Gi{\o}rtz} and Timothy dPoterba and Poulsen, {Jesper Buchhave} and Pourcain, {Beate St} and Merete Nordentoft and Thomas Werge and {Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium}",
year = "2019",
month = mar,
doi = "10.1038/s41588-019-0344-8",
language = "English",
volume = "51",
pages = "431--444",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "3",

}

RIS

TY - JOUR

T1 - Identification of common genetic risk variants for autism spectrum disorder

AU - Grove, Jakob

AU - Ripke, Stephan

AU - Als, Thomas D

AU - Mattheisen, Manuel

AU - Walters, Raymond K

AU - Won, Hyejung

AU - Pallesen, Jonatan

AU - Agerbo, Esben

AU - Andreassen, Ole A

AU - Anney, Richard

AU - Awashti, Swapnil

AU - Belliveau, Rich

AU - Bettella, Francesco

AU - Buxbaum, Joseph D

AU - Bybjerg-Grauholm, Jonas

AU - Bækvad-Hansen, Marie

AU - Cerrato, Felecia

AU - Chambert, Kimberly

AU - Christensen, Jane H

AU - Churchhouse, Claire

AU - Dellenvall, Karin

AU - Demontis, Ditte

AU - De Rubeis, Silvia

AU - Devlin, Bernie

AU - Djurovic, Srdjan

AU - Dumont, Ashley L

AU - Goldstein, Jacqueline I

AU - Hansen, Christine S

AU - Hauberg, Mads Engel

AU - Hollegaard, Mads V

AU - Hope, Sigrun

AU - Howrigan, Daniel P

AU - Huang, Hailiang

AU - Hultman, Christina M

AU - Klei, Lambertus

AU - Maller, Julian

AU - Martin, Joanna

AU - Martin, Alicia R

AU - Moran, Jennifer L

AU - Nyegaard, Mette

AU - Nærland, Terje

AU - Palmer, Duncan S

AU - Palotie, Aarno

AU - Pedersen, Carsten Bøcker

AU - Pedersen, Marianne Giørtz

AU - dPoterba, Timothy

AU - Poulsen, Jesper Buchhave

AU - Pourcain, Beate St

AU - Nordentoft, Merete

AU - Werge, Thomas

AU - Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium

PY - 2019/3

Y1 - 2019/3

N2 - Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

AB - Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

KW - Adolescent

KW - Autism Spectrum Disorder/genetics

KW - Case-Control Studies

KW - Child

KW - Child, Preschool

KW - Denmark

KW - Female

KW - Genetic Predisposition to Disease/genetics

KW - Genome-Wide Association Study/methods

KW - Humans

KW - Male

KW - Multifactorial Inheritance/genetics

KW - Phenotype

KW - Polymorphism, Single Nucleotide/genetics

KW - Risk Factors

U2 - 10.1038/s41588-019-0344-8

DO - 10.1038/s41588-019-0344-8

M3 - Journal article

C2 - 30804558

VL - 51

SP - 431

EP - 444

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -

ID: 232647121