期刊
NATURE GENETICS
卷 51, 期 3, 页码 431-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-019-0344-8
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资金
- Lundbeck Foundation [R102-A9118, R155-2014-1724]
- university and university hospital of Aarhus
- university and university hospital of Copenhagen
- Stanley Foundation
- Simons Foundation [SFARI 311789]
- NIMH [5U01MH094432-02, 1U01MH109514-01]
- Novo Nordisk Foundation
- NIH [MH097849, MH111661]
- Seaver Foundation
- Wellcome Trust [106047]
- Research Council of Norway [213694, 223273, 248980, 248778]
- Stiftelsen KG Jebsen
- South-East Norway Health Authority
- Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant)
- Medical Research Council [MC_UU_00007/10] Funding Source: researchfish
- MRC [MC_UU_00011/1, G0700704, G0200243] Funding Source: UKRI
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.
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