The Heritability of Autism Spectrum Disorder
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This study reanalyzes Swedish cohort data to assess the stability under alternative assumptions and models of a previous estimate of the heritability of autism spectrum disorder.
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ASD is highly heritable, with genetic risk factors thought to explain the majority of the risk for ASD.
“Despite the significant clinical heterogeneity of this condition, many studies have shown that ASD is highly heritable, with genetic risk factors thought to explain the majority of the risk for ASD.2”
From Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) · cites this paper as [2]
The present estimates align with those from recent population cohorts and a twin-study meta-analysis that reported heritability between 64% and 91%.
“These results are similar to those of recent population-based cohorts 4,9,10 as well as a recent metaanalysis of twin studies, 8 which estimated heritability in the range of 64% to 91%.”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [8]
A twin-study meta-analysis put ASD heritability between 64% and 91%.
“A meta-analysis of twin studies estimated heritability to be in the range of 64% to 91%, 8”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [8]
Shared environmental factors made only a small contribution to ASD risk overall, as in most other studies.
“Like most studies, 8,11 overall shared environmental factors contributed minimally to the risk of ASD.”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [8]
Reported shared-environment contributions to ASD vary from 7% to 35%, although several studies find zero.
“Estimates of the contribution of shared environment range from 7% to 35%, 8 but multiple studies estimate the contribution to be zero.4,9,11,12”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [8]
Contribution from shared environmental exposures that make family members similar has been uncertain.
“In contrast, contribution from environmental exposures that make family members similar (ie, shared environment), has been uncertain.8”
From Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort (2019) · cites this paper as [8]
Cites
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Hallmayer, J. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.76 · Cited by 1,970 · see citing works
Heritability in the genomics era — concepts and misconceptions
Visscher, P. M., Hill, W. G., & Wray, N. R. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2322 · Cited by 1,921 · see citing works
Heritability of autism spectrum disorders: a meta-analysis of twin studies
Tick, B., Bolton, P., Happé, F., Rutter, M., & Rijsdijk, F. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12499 · Cited by 1,150 · see citing works
Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014) · JAMA · doi:10.1001/jama.2014.4144 · Cited by 1,073 · see citing works
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Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice
Sharon, G., Cruz, N. J., Kang, D.-W., Gandal, M. J., Wang, B., Kim, Y.-M., Zink, E. M., Casey, C. P., Taylor, B. C., Lane, C. J., et al. (2019) · Cell · doi:10.1016/j.cell.2019.05.004 · Cited by 1,182 · see citing works
Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort
Bai, D., Yip, B. H. K., Windham, G. C., Sourander, A., Francis, R., Yoffe, R., Glasson, E., Mahjani, B., Suominen, A., Leonard, H., et al. (2019) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.1411 · Cited by 683 · see citing works
Self-citationExome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0093-8 · Cited by 247 · see citing works
Maher, G. M., O’Keeffe, G. W., Kearney, P. M., Kenny, L. C., Dinan, T. G., Mattsson, M., & Khashan, A. S. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2018.0854 · Cited by 271 · see citing works
Dysbiosis of microbiome and probiotic treatment in a genetic model of autism spectrum disorders
Tabouy, L., Getselter, D., Ziv, O., Karpuj, M., Tabouy, T., Lukic, I., Maayouf, R., Werbner, N., Ben-Amram, H., Nuriel-Ohayon, M., et al. (2018) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2018.05.015 · Cited by 214 · see citing works
Autism, Gastrointestinal Symptoms and Modulation of Gut Microbiota by Nutritional Interventions
Ristori, M. V., Quagliariello, A., Reddel, S., Ianiro, G., Vicari, S., Gasbarrini, A., & Putignani, L. (2019) · Nutrients · doi:10.3390/nu11112812 · Cited by 214 · see citing works
Cybulski, L., Ashcroft, D. M., Carr, M. J., Garg, S., Chew-Graham, C. A., Kapur, N., & Webb, R. T. (2021) · BMC Psychiatry · doi:10.1186/s12888-021-03235-w · Cited by 170 · see citing works
Bölte, S., Lawson, W. B., Marschik, P. B., & Girdler, S. (2021) · BioEssays · doi:10.1002/bies.202000254 · Cited by 99 · see citing works
Rodrigues, R., Lai, M., Beswick, A., Gorman, D. A., Anagnostou, E., Szatmari, P., Anderson, K. K., & Ameis, S. H. (2021) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.13305 · Cited by 98 · see citing works
The familial risk of autism spectrum disorder with and without intellectual disability
Xie, S., Karlsson, H., Dalman, C., Widman, L., Rai, D., Gardner, R. M., Magnusson, C., Sandin, S., Tabb, L. P., Newschaffer, C. J., et al. (2020) · Autism Research · doi:10.1002/aur.2417 · Cited by 64 · see citing works
Self-citationInherited risk for autism through maternal and paternal lineage
Bai, D., Marrus, N., Yip, B. H. K., Reichenberg, A., Constantino, J. N., & Sandin, S. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.03.013 · Cited by 45 · see citing works
Self-citationHowell, B. W., & Smith, K. M. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2018.11.019 · Cited by 35 · see citing works
Torrico, B., Shaw, A. D., Mosca, R., Vivó-Luque, N., Hervás, A., Fernàndez-Castillo, N., Aloy, P., Bayés, M., Fullerton, J. M., Cormand, B., et al. (2019) · Journal of Psychiatry and Neuroscience · doi:10.1503/jpn.180184 · Cited by 34 · see citing works
Endocrine insights into the pathophysiology of autism spectrum disorder
Wilson, H. A., Creighton, C., Scharfman, H., Choleris, E., & MacLusky, N. J. (2021) · The Neuroscientist · doi:10.1177/1073858420952046 · Cited by 23 · see citing works
The Genetics of Autism Spectrum Disorders
Yuen, R. K. C., Szatmari, P., & Vorstman, J. A. S. (2019) · Autism and Pervasive Developmental Disorders · doi:10.1017/9781108297769.006 · Cited by 19 · see citing works
- Authors
- Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Hultman, C., Larsson, H., & Reichenberg, A.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Karolinska Institutet (SE)
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
- Örebro University (SE)
- Corresponding author
- Sandin, Sven
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2017-09-26
- Volume
- 318
- Issue
- 12
- Pages
- 1182
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC5818813
- OpenAlex
- W2757581422
- Cited by
- 776
- References
- 4
- Citations by year
- 2026: 94 · 2025: 99 · 2024: 92 · 2023: 96 · 2022: 85 · 2021: 98 · 2020: 98 · 2019: 71 · 2018: 40 · 2017: 1 · 2014: 1 · 2013: 1
- FWCI
- 32.98
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- JAMA (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- 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, heritability, genetic epidemiology, reanalysis, twin and family studies
- MeSH terms
- Autism Spectrum Disorder, Child, Humans, Sweden, Twins, Cohort Studies, Genetic Predisposition to Disease, Siblings
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