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Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort
Journal article   Open access   Peer reviewed

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

Dan Bai, Benjamin Hon Kei Yip, Gayle C. Windham, Andre Sourander, Richard Francis, Rinat Yoffe, Emma Glasson, Behrang Mahjani, Auli Suominen, Helen Leonard, …
JAMA psychiatry (Chicago, Ill.), v 76(10), pp 1035-1043
01 Oct 2019
PMID: 31314057
url
https://doi.org/10.1001/jamapsychiatry.2019.1411View
Published, Version of Record (VoR) Open

Abstract

Life Sciences & Biomedicine Psychiatry Science & Technology ESI Highly Cited Paper (Incites)
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 2001631 individuals, of whom 1027546 (51.3%) were male. Among the entire sample, 22156 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.

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Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Psychiatry
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