Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

By J. Hallmayer, Sue C. Cleveland, Andrea Torres, Jennifer M. Phillips, B. Cohen, Tiffany Torigoe, Janet Miller, A. Fedele, Jack Collins, K. Smith and 6 more. Archives of General Psychiatry, 2011

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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 2004were 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.

Subfields: Clinical Psychology, Cognitive Neuroscience, Psychiatry and Mental health

View Paper: https://www.semanticscholar.org/paper/e4d5f338b25bc4357567aa1c4b4dacfee464b329

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Citations in the corpus

High intelligence: A risk factor for psychological and physiological overexcitabilities (2018, background): “The genes involved appear to be switched on in response to an antigen or trigger early in development, typically between one and three years of age (Hallmayer et al., 2011).”
THE FAMILIAL RISK OF AUTISM (2014, neutral): “Age at ASD diagnosis 13 (4-22) 13 (4-22) 13 (4-23) 13 (4-22) 11 (4-21) 10 (4-25)”
Consensus Paper: Pathological Role of the Cerebellum in Autism (2012, neutral): “Secondly, genetics strongly contributes to the pathogenesis of AD, but many patients reveal no obviously pathogenic mutations or copy number variants, and initial heritability estimates as high as >90% [234] have been challenged by more recent twin studies [235].”
Sex/Gender Differences and Autism: Setting the Scene for Future Research (2015, background): “67 However, heritability is equal in males and females, 104 and in familial autism, inherited susceptibility is equally transmitted by unaffected mothers and fathers.”
The Changing Epidemiology of Autism Spectrum Disorders (2016, background): “ASD is highly heritable, but environmental factors are also implicated (76, 146).”
Advancing the understanding of autism disease mechanisms through genetics (2016, neutral): “Firstly, recurrence of ASD in families implies a strong inherited genetic component 28,29 .”
The microbiota modulates gut physiology and behavioral abnormalities associated with autism (2013, neutral): “Much research on ASD has focused on genetic, behavioral, and neurological aspects of disease, though the contributions of environmental risk factors (Hallmayer et al., 2011), immune dysregulation (Onore et al., 2012), and additional peripheral disruptions (Kohane et al., 2012) in the pathogenesis…”
Mechanisms underlying microbial-mediated changes in social behavior in mouse models of Autism Spectrum Disorder (2018, neutral): “reuteri Rescues Their Social Deficits Several environmental and genetic factors have been identified to be associated with increased incidence of ASD (Hallmayer et al., 2011; Kim and Leventhal, 2015).”
Reduced Incidence of Prevotella and Other Fermenters in Intestinal Microflora of Autistic Children (2013, background): “ASD patients and their families face difficulties in treatment due to a highly diverse etiology of ASD in which genetic and environmental factors are equally important, as implied by a large twin concordance study [3].”