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Arch Gen Psychiatry. 2011 Nov;68(11):1095-102. doi: 10.1001/archgenpsychiatry.2011.76. Epub 2011 Jul 4.

Genetic heritability and shared environmental factors among twin pairs with autism.

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  • 1Departmentof Psychiatry, Stanford UniversitySchool of Medicine, USA. joachimh@stanford.edu

Abstract

CONTEXT:

Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins.

OBJECTIVE:

To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment.

DESIGN, SETTING, AND PARTICIPANTS:

Twin pairs with at least 1 twin with an autism spectrum disorder (ASD) born between 1987 and 2004 were identified through the California Department of Developmental Services.

MAIN OUTCOME MEASURES:

Structured diagnostic assessments (Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule) were completed on 192 twin pairs. Concordance rates were calculated and parametric models were fitted for 2 definitions, 1 narrow (strict autism) and 1 broad (ASD).

RESULTS:

For strict autism, probandwise concordance for male twins was 0.58 for 40 monozygotic pairs (95% confidence interval [CI], 0.42-0.74) and 0.21 for 31 dizygotic pairs (95% CI, 0.09-0.43); for female twins, the concordance was 0.60 for 7 monozygotic pairs (95% CI, 0.28-0.90) and 0.27 for 10 dizygotic pairs (95% CI, 0.09-0.69). For ASD, the probandwise concordance for male twins was 0.77 for 45 monozygotic pairs (95% CI, 0.65-0.86) and 0.31 for 45 dizygotic pairs (95% CI, 0.16-0.46); for female twins, the concordance was 0.50 for 9 monozygotic pairs (95% CI, 0.16-0.84) and 0.36 for 13 dizygotic pairs (95% CI, 0.11-0.60). A large proportion of the variance in liability can be explained by shared environmental factors (55%; 95% CI, 9%-81% for autism and 58%; 95% CI, 30%-80% for ASD) in addition to moderate genetic heritability (37%; 95% CI, 8%-84% for autism and 38%; 95% CI, 14%-67% for ASD).

CONCLUSION:

Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.

PMID:
21727249
[PubMed - indexed for MEDLINE]
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