Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

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  • Dan Bai, Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR.
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  • Benjamin Hon Kei Yip, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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  • Gayle C Windham, Center for Health Communities, Environmental Health Investigations Branch, California Department of Public Health, Richmond.
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  • Andre Sourander, Department of Child Psychiatry, Turku University Hospital and University of Turku, Finland.
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  • Richard Francis, Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
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  • Rinat Yoffe, Mental Health Services, Ministry of Health, Israel.
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  • Emma Glasson, Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
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  • Behrang Mahjani, Icahn School of Medicine at Mount Sinai, New York, NY; Seaver Autism Center for Research and Treatment; Friedman Brain Institute and Mindich Child Health and Development Institute.
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  • Auli Suominen, Department of Child Psychiatry, Turku University Hospital and University of Turku, Finland.
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  • Helen Leonard, Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
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  • Mika Gissler, Department of Neurobiology, Care Sciences and Society, Aging Research Center, Karolinska Institutet, Stockholm, Sweden.
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  • Joseph D Buxbaum, 1] MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. [2] Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute for Personalized Medicine, The Mindich Child Health and Development Institute, Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L Levy Place, Box 1003, New York, New York 10029, USA.
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  • Kingsley Wong, Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
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  • Diana Schendel
  • Arad Kodesh, Meuhedet Health Services, Israel.
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  • Michaeline Breshnahan, New York State Psychiatric Institute
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  • Stephen Z Levine, Department of Community Mental Health, University of Haifa, Haifa, Israel.
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  • Erik T Parner
  • Stefan N Hansen
  • Christina Hultman, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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  • Abraham Reichenberg, 1] MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. [2] Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute for Personalized Medicine, The Mindich Child Health and Development Institute, Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L Levy Place, Box 1003, New York, New York 10029, USA.
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  • Sven Sandin, Icahn School of Medicine at Mount Sinai, New York, NY; Seaver Autism Center for Research and Treatment; Friedman Brain Institute and Mindich Child Health and Development Institute.

Importance: The origins and development of autism spectrum disorder (ASD) remain unresolved. No individual-level study has provided estimates of additive genetic, maternal, and environmental effects in ASD across several countries.

Objective: To estimate the additive genetic, maternal, and environmental effects in ASD.

Design, Setting, and Participants: Population-based, multinational cohort study including full birth cohorts of children from Denmark, Finland, Sweden, Israel, and Western Australia born between January 1, 1998, and December 31, 2011, and followed up to age 16 years. Data were analyzed from September 23, 2016 through February 4, 2018.

Main Outcomes and Measures: Across 5 countries, models were fitted to estimate variance components describing the total variance in risk for ASD occurrence owing to additive genetics, maternal, and shared and nonshared environmental effects.

Results: The analytic sample included 2 001 631 individuals, of whom 1 027 546 (51.3%) were male. Among the entire sample, 22 156 were diagnosed with ASD. The median (95% CI) ASD heritability was 80.8% (73.2%-85.5%) for country-specific point estimates, ranging from 50.9% (25.1%-75.6%) (Finland) to 86.8% (69.8%-100.0%) (Israel). For the Nordic countries combined, heritability estimates ranged from 81.2% (73.9%-85.3%) to 82.7% (79.1%-86.0%). Maternal effect was estimated to range from 0.4% to 1.6%. Estimates of genetic, maternal, and environmental effects for autistic disorder were similar with ASD.

Conclusions and Relevance: Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%, indicating that the variation in ASD occurrence in the population is mostly owing to inherited genetic influences, with no support for contribution from maternal effects. The results suggest possible modest differences in the sources of ASD risk between countries.

OriginalsprogEngelsk
TidsskriftJAMA Psychiatry
Vol/bind76
Nummer10
Sider (fra-til)1035-1043
Antal sider9
ISSN0003-990X
DOI
StatusUdgivet - 2019

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