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Identification of common genetic risk variants for autism spectrum disorder
- Source :
- Nature genetics, vol 51, iss 3
- Publication Year :
- 2019
- Publisher :
- eScholarship, University of California, 2019.
-
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.
- Subjects :
- Male
Multifactorial Inheritance
Adolescent
Autism Spectrum Disorder
Intellectual and Developmental Disabilities (IDD)
Autism
Denmark
behavioral disciplines and activities
23andMe Research Team
Medical and Health Sciences
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
2.3 Psychological
Risk Factors
mental disorders
Genetics
2.1 Biological and endogenous factors
Humans
Genetic Predisposition to Disease
Aetiology
Polymorphism
Child
Preschool
Pediatric
Prevention
Human Genome
Single Nucleotide
Biological Sciences
Brain Disorders
Mental Health
Phenotype
Case-Control Studies
BUPGEN
Female
social and economic factors
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
Biotechnology
Genome-Wide Association Study
Developmental Biology
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Nature genetics, vol 51, iss 3
- Accession number :
- edsair.dedup.wf.001..691eb1d7680f90e341d947bf0ecb819a