Common risk variants identified in autism spectrum disorder
Open accessPreprint — published as 10.1038/s41588-019-0344-8 · Paper page
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 ASD cases and 27,969 controls that identifies five genome-wide significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), seven additional loci shared with other traits are identified at equally strict significance levels. Dissecting the polygenic architecture we find both quantitative and qualitative polygenic heterogeneity across ASD subtypes, in contrast to what is typically seen in other complex disorders. 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, just as it has been in a broad range of important psychiatric and diverse medical phenotypes.
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CADPS, located within an ASD GWAS risk locus and supported by Hi-C as a putative target, manifests multiple isoform and splice alterations in ASD.
“Another example is CADPS, which is located within an ASD GWAS risk locus and supported by Hi-C defined chromatin interactions as a putative target gene (38) and manifests multiple isoform and splice alterations in ASD (Fig S9; Tables S1 and S3).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [38]
Of seven TWAS-significant genes at 17q21.31, conditional analysis prioritized LRRC37A, supported by SMR and Hi-C interaction in fetal brain.
“Of the seven TWAS-significant genes at this locus, conditional analysis prioritizes one – LRRC37A, which is further supported by SMR and Hi-C interaction in fetal brain (38).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [38]
The 17q21.31 region showed multiple PRS associations but did not reach genome-wide significance in the largest GWAS.
“This includes the 17q21.31 region, which showed multiple PRS associations as described above, but did not reach genome-wide significance in the largest GWAS to date (38).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [38]
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- Authors
- Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., Belliveau, R., Bettella, F., Buxbaum, J. D., Bybjerg-Grauholm, J., Bækved-Hansen, M., Cerrato, F., Chambert, K., Christensen, J. H., Churchhouse, C., Dellenvall, K., Demontis, D., De Rubeis, S., Devlin, B., Djurovic, S., Dumont, A., Goldstein, J., Hansen, C. S., Hauberg, M. E., Hollegaard, M. V., Hope, S., Howrigan, D. P., Huang, H., Hultman, C., Klei, L., Maller, J., Martin, J., Martin, A. R., Moran, J., Nyegaard, M., Nærland, T., Palmer, D. S., Palotie, A., Pedersen, C. B., Pedersen, M. G., Poterba, T., Poulsen, J. B., St Pourcain, B., Qvist, P., Rehnström, K., Reichenberg, A., Reichert, J., Robinson, E. B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F. K., Smith, G. D., Stefansson, H., Stefansson, K., Steinberg, S., Stevens, C., Sullivan, P. F., Turley, P., Walters, G. B., Xu, X., Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, B., Geschwind, D., Nordentoft, M., Hougaard, D. M., Werge, T., Mors, O., Mortensen, P. B., Neale, B. M., Daly, M. J., & Børglum, A. D.
- Affiliations
- Aarhus University (DK)
- Broad Institute (US)
- University of California, Los Angeles (US)
- Oslo University Hospital (NO)
- Cardiff University (GB)
- Icahn School of Medicine at Mount Sinai (US)
- Statens Serum Institut (DK)
- Karolinska Institutet (SE)
- University of Pittsburgh (US)
- Wellcome Sanger Institute (GB)
- Harvard University (US)
- Carnegie Mellon University (US)
- James J. Peters VA Medical Center (US)
- University of Bristol (GB)
- deCODE Genetics (Iceland) (IS)
- University of North Carolina at Chapel Hill (US)
- University of Copenhagen (DK)
- Aarhus University Hospital (DK)
- Corresponding author
- Daly, Mark J.
- Børglum, Anders D.
- ORCID
- Grove, Jakob
- Ripke, Stephan
- Als, Thomas D.
- Mattheisen, Manuel
- Walters, Raymond
- Won, Hyejung
- Agerbo, Esben
- Andreassen, Ole A.
- Anney, Richard
- Bettella, Francesco
- Buxbaum, Joseph D.
- Cerrato, Felecia
- Christensen, Jane H.
- Demontis, Ditte
- Devlin, Bernie
- Djurovic, Srdjan
- Goldstein, Jacqueline
- Hansen, Christine S.
- Hauberg, Mads Engel
- Hollegaard, Mads V.
- Hope, Sigrun
- Howrigan, Daniel P.
- Huang, Hailiang
- Klei, Lambertus
- Maller, Julian
- Martin, Joanna
- Martin, Alicia R.
- Moran, Jennifer
- Nyegaard, Mette
- Nærland, Terje
- Palmer, Duncan S.
- Palotie, Aarno
- Pedersen, Carsten B.
- Poterba, Timothy
- Qvist, Per
- Robinson, Elise B.
- Roeder, Kathryn
- Roussos, Panos
- Sandin, Sven
- Satterstrom, F. Kyle
- Smith, George D.
- Steinberg, Stacy
- Stevens, Christine
- Sullivan, Patrick F.
- Turley, Patrick
- Walters, G. Bragi
- Xu, Xinyi
- Geschwind, Daniel
- Nordentoft, Merete
- Werge, Thomas
- Mors, Ole
- Mortensen, Preben Bo
- Neale, Benjamin M.
- Daly, Mark J.
- Børglum, Anders D.
- Venue
- bioRxiv (Cold Spring Harbor Laboratory)
- Publisher
- openRxiv
- Published
- 2017-11-25
- OpenAlex
- W2773515336
- Cited by
- 89
- References
- 41
- Citations by year
- 2026: 2 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 6 · 2020: 7 · 2019: 39 · 2018: 26 · 2017: 1
- Type
- posted content
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- Funders
- Simons Foundation (311789, SFARI 311789)
- Aarhus Universitet
- Wellcome Trust (106047)
- Simons Foundation Autism Research Initiative
- Lundbeckfonden (R155-2014-1724, R102‐A9118, R102-A9118 and R155-2014-1724)
- Novo Nordisk
- Novo Nordisk Fonden
- H. Lundbeck A/S (R102-A9118, R155-2014-1724)
- National Institutes of Health
- National Institute of Mental Health (U01MH109514, U01MH111661, MH097849, MH111661, 5U01MH094432‐02)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, common genetic variants, polygenic architecture, ASD subtypes, schizophrenia, major depressive disorder, educational attainment, neuronal function, cortical development, genetic susceptibility
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Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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