Autism spectrum disorder (ASD) comprises a multi‐dimensional set of quantitative behavioral traits expressed along a continuum in autistic and neurotypical individuals. ASD diagnosis—a dichotomous trait—is known to be highly heritable and has been used as the phenotype for most ASD genetic studies. But less is known about the heritability of autism spectrum quantitative traits, especially in adults, an important prerequisite for gene discovery. We sought to measure the heritability of many autism‐relevant quantitative traits in adults high in autism spectrum traits and their extended family members. Among adults high in autism spectrum traits (n = 158) and their extended family members (n = 245), we calculated univariate and bivariate heritability estimates for 19 autism spectrum traits across several behavioral domains. We found nearly all tested autism spectrum quantitative traits to be significantly heritable (h2 = 0.24–0.79), including overall ASD traits, restricted repetitive behaviors, broader autism phenotype traits, social anxiety, and executive functioning. The degree of shared heritability varied based on method and specificity of the assessment measure. We found high shared heritability for the self‐report measures and for most of the informant‐report measures, with little shared heritability among performance‐based cognition tasks. These findings suggest that many autism spectrum quantitative traits would be good, feasible candidates for future genetics studies, allowing for an increase in the power of autism gene discovery. Our findings suggest that the degree of shared heritability between traits depends on the assessment method (self‐report vs. informant‐report vs. performance‐based tasks), as well as trait‐specificity. Lay Summary We found that the scores from questionnaires and tasks measuring different types of behaviors and abilities related to autism spectrum disorder (ASD) were heritable (strongly influenced by gene variants passed down through a family) among autistic adults and their family members. These findings mean that these scores can be used in future studies interested in identifying specific genes and gene variants that are associated with different behaviors and abilities related with ASD.
There is a critical need for phenotypes with substantial heritability that can be used as endophenotypes in behavioral genetic studies. Activity monitoring, called actimetry, has potential as a means of assessing sleep and circadian rhythm traits that could serve as endophenotypes relevant to a range of psychopathologies. This study examined a range of actimetry traits for heritability using a classic twin design. The sample consisted of 195 subjects from 45 monozygotic (MZ) and 50 dizygotic (DZ) twin pairs aged 16‐40 years. Subjects wore both a research‐grade actimeter (GENEActiv) and a consumer‐oriented device (FitBit) for 2 weeks. Sleep and circadian traits were extracted from GENEActiv data using PennZzz and ChronoSapiens software programs. Sleep statistics for a limited number of FitBit‐collected traits were generated by its accompanying mobile app. Broad sense heritability was computed on a set of 33 MZ and 38 DZ twin pairs with complete data using both OpenMX and SOLAR software. These analyses yielded a large number of actimetry‐derived traits, 20 of which showed high heritability (h2 > 0.6), seven of which remain significant after Bonferroni correction. These results indicate that actimetry enables assessing a range of phenotypes with substantial heritability that may be useful as endophenotypes for genetic studies.
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