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Research Letter
September 26, 2017

The Heritability of Autism Spectrum Disorder

Author Affiliations
  • 1Department of Psychiatry, Ichan School of Medicine at Mount Sinai, New York, New York
  • 2Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
  • 3School of Medical Sciences, Örebro University, Örebro, Sweden
JAMA. 2017;318(12):1182-1184. doi:10.1001/jama.2017.12141

Studies have found that autism spectrum disorder (ASD) aggregates in families, and twin studies estimate the proportion of the phenotype variance due to genetic factors (heritability) to be about 90%.1

In a previous study,2 ASD heritability was estimated to be 0.50, and shared familial environmental influences to be 0.04. To define presence or absence of ASD, the study used a data set created to take into account time-to-event effects in the data, which may have reduced the heritability estimates (detailed explanation in Figure).

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