Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort
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. To estimate the additive genetic, maternal, and environmental effects in ASD. Po...
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| Vydané v: | JAMA psychiatry (Chicago, Ill.) Ročník 76; číslo 10; s. 1035 |
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| Hlavní autori: | , , , , , , , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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United States
01.10.2019
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| ISSN: | 2168-6238, 2168-6238 |
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| Abstract | 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.
To estimate the additive genetic, maternal, and environmental effects in ASD.
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.
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.
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.
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. |
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| AbstractList | 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.
To estimate the additive genetic, maternal, and environmental effects in ASD.
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.
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.
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.
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. 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.ImportanceThe 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.To estimate the additive genetic, maternal, and environmental effects in ASD.ObjectiveTo estimate the additive genetic, maternal, and environmental effects in ASD.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.Design, Setting, and ParticipantsPopulation-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.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.Main Outcomes and MeasuresAcross 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.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.ResultsThe 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.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.Conclusions and RelevanceBased 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. |
| Author | Suominen, Auli Bai, Dan Hultman, Christina Leonard, Helen Levine, Stephen Z Breshnahan, Michaeline Buxbaum, Joseph D Sourander, Andre Parner, Erik T Kodesh, Arad Francis, Richard Yoffe, Rinat Hansen, Stefan N Mahjani, Behrang Reichenberg, Abraham Windham, Gayle C Schendel, Diana Gissler, Mika Wong, Kingsley Sandin, Sven Glasson, Emma Yip, Benjamin Hon Kei |
| Author_xml | – sequence: 1 givenname: Dan surname: Bai fullname: Bai, Dan organization: Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong SAR – sequence: 2 givenname: Benjamin Hon Kei surname: Yip fullname: Yip, Benjamin Hon Kei organization: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden – sequence: 3 givenname: Gayle C surname: Windham fullname: Windham, Gayle C organization: Center for Health Communities, Environmental Health Investigations Branch, California Department of Public Health, Richmond – sequence: 4 givenname: Andre surname: Sourander fullname: Sourander, Andre organization: Department of Child Psychiatry, Turku University, Turku University Hospital, Turku, Finland – sequence: 5 givenname: Richard surname: Francis fullname: Francis, Richard organization: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia – sequence: 6 givenname: Rinat surname: Yoffe fullname: Yoffe, Rinat organization: Ministry of Health, Israel – sequence: 7 givenname: Emma surname: Glasson fullname: Glasson, Emma organization: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia – sequence: 8 givenname: Behrang surname: Mahjani fullname: Mahjani, Behrang organization: Seaver Autism Center for Research and Treatment at Mount Sinai, New York, New York – sequence: 9 givenname: Auli surname: Suominen fullname: Suominen, Auli organization: Department of Child Psychiatry, Turku University, Turku University Hospital, Turku, Finland – sequence: 10 givenname: Helen surname: Leonard fullname: Leonard, Helen organization: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia – sequence: 11 givenname: Mika surname: Gissler fullname: Gissler, Mika organization: Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden – sequence: 12 givenname: Joseph D surname: Buxbaum fullname: Buxbaum, Joseph D organization: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York – sequence: 13 givenname: Kingsley surname: Wong fullname: Wong, Kingsley organization: Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia, Perth, Australia – sequence: 14 givenname: Diana surname: Schendel fullname: Schendel, Diana organization: iPSYCH, Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus University, Aarhus, Denmark – sequence: 15 givenname: Arad surname: Kodesh fullname: Kodesh, Arad organization: Meuhedet Health Services, Israel – sequence: 16 givenname: Michaeline surname: Breshnahan fullname: Breshnahan, Michaeline organization: New York State Psychiatric Institute, New York – sequence: 17 givenname: Stephen Z surname: Levine fullname: Levine, Stephen Z organization: Department of Community Mental Health, University of Haifa, Haifa, Israel – sequence: 18 givenname: Erik T surname: Parner fullname: Parner, Erik T organization: Section for Biostatistics, Department of Public Health, Aarhus University, Aarhus, Denmark – sequence: 19 givenname: Stefan N surname: Hansen fullname: Hansen, Stefan N organization: Section for Biostatistics, Department of Public Health, Aarhus University, Aarhus, Denmark – sequence: 20 givenname: Christina surname: Hultman fullname: Hultman, Christina organization: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden – sequence: 21 givenname: Abraham surname: Reichenberg fullname: Reichenberg, Abraham organization: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York – sequence: 22 givenname: Sven surname: Sandin fullname: Sandin, Sven organization: Seaver Autism Center for Research and Treatment at Mount Sinai, New York, New York |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31314057$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Adolescent Autism Spectrum Disorder - epidemiology Autism Spectrum Disorder - etiology Autism Spectrum Disorder - genetics Autistic Disorder - epidemiology Autistic Disorder - etiology Child Cohort Studies Denmark - epidemiology Environment Family Female Finland - epidemiology Genetic Association Studies - methods Genetic Association Studies - standards Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Humans Inheritance Patterns - genetics Israel - epidemiology Male Maternal Inheritance - genetics Sensitivity and Specificity Sweden - epidemiology Western Australia - epidemiology |
| Title | Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort |
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