Neural and Genetic Bases for Human Ability Traits

Pinto, Camila Bonin; Bielefeld, Jannis; Jabakhanji, Rami; Reckziegel, Diane; Griffith, James W.; Apkarian, A. Vania

doi:10.3389/fnhum.2020.609170

Cited by 3 publications

(2 citation statements)

References 65 publications

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“…Heritabilities of performance on the NIH Toolbox seem roughly on par with the results in adults (Pinto et al 2020 ), where general aggregate cognition metrics showed heritabilities around 50%, with individual task or cognitive factor score heritabilities generally lower. The findings are consistent with expectations for the composite measures of fluid and crystallized ability.…”

Section: Substantive Considerationssupporting

confidence: 63%

Genetic and Environmental Variation in Continuous Phenotypes in the ABCD Study®

et al. 2022

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Twin studies yield valuable insights into the sources of variation, covariation and causation in human traits. The ABCD Study® (abcdstudy.org) was designed to take advantage of four universities known for their twin research, neuroimaging, population-based sampling, and expertise in genetic epidemiology so that representative twin studies could be performed. In this paper we use the twin data to: (i) provide initial estimates of heritability for the wide range of phenotypes assessed in the ABCD Study using a consistent direct variance estimation approach, assuring that both data and methodology are sound; and (ii) provide an online resource for researchers that can serve as a reference point for future behavior genetic studies of this publicly available dataset. Data were analyzed from 772 pairs of twins aged 9–10 years at study inception, with zygosity determined using genotypic data, recruited and assessed at four twin hub sites. The online tool provides twin correlations and both standardized and unstandardized estimates of additive genetic, and environmental variation for 14,500 continuously distributed phenotypic features, including: structural and functional neuroimaging, neurocognition, personality, psychopathology, substance use propensity, physical, and environmental trait variables. The estimates were obtained using an unconstrained variance approach, so they can be incorporated directly into meta-analyses without upwardly biasing aggregate estimates. The results indicated broad consistency with prior literature where available and provided novel estimates for phenotypes without prior twin studies or those assessed at different ages. Effects of site, self-identified race/ethnicity, age and sex were statistically controlled. Results from genetic modeling of all 53,172 continuous variables, including 38,672 functional MRI variables, will be accessible via the user-friendly open-access web interface we have established, and will be updated as new data are released from the ABCD Study. This paper provides an overview of the initial results from the twin study embedded within the ABCD Study, an introduction to the primary research domains in the ABCD study and twin methodology, and an evaluation of the initial findings with a focus on data quality and suitability for future behavior genetic studies using the ABCD dataset. The broad introductory material is provided in recognition of the multidisciplinary appeal of the ABCD Study. While this paper focuses on univariate analyses, we emphasize the opportunities for multivariate, developmental and causal analyses, as well as those evaluating heterogeneity by key moderators such as sex, demographic factors and genetic background.

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Section: Substantive Considerationssupporting

confidence: 63%

Genetic and Environmental Variation in Continuous Phenotypes in the ABCD Study®

et al. 2022

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“…Sensorimotor differences represent promising endophenotypes for ASD as they are highly quanti able, highly heritable [14,15], and evident in autistic individuals [16,17] and their unaffected relatives [18,19].…”

Section: Introductionmentioning

confidence: 99%

Sensorimotor Behavior in Individuals with Autism Spectrum Disorder and Their Unaffected Biological Parents

Bojanek

Kelly²,

Schmitt

et al. 2023

Preprint

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Background: Sensorimotor impairments are common in autism spectrum disorder (ASD) and evident in unaffected first-degree relatives, suggesting that they may serve as important endophenotypes associated with inherited risk. We tested the familiality of sensorimotor impairments in ASD across multiple motor behaviors and effector systems and in relation to parental broader autism phenotypic (BAP) characteristics. Methods: Fifty-eight autistic individuals (probands), 109 parents, and 89 control participants completed tests of manual motor and oculomotor control. Sensorimotor tests varied in their involvement of rapid, feedforward control and sustained, sensory feedback control processes. Subgroup analyses compared families with at least one parent showing BAP traits (BAP+) and those in which neither parent showed BAP traits (BAP-). Results: Probands with BAP- parents (BAP- probands) showed rapid manual motor and oculomotor deficits, while BAP+ probands showed sustained motor impairments compared to controls. BAP- parents showed impaired rapid oculomotor and sustained manual motor abilities relative to BAP+ parents and controls. Atypical rapid oculomotor impairments also were familial. Limitations: Larger samples of ASD families including greater samples of probands with BAP+ parents are needed. Genetic studies also are needed to link sensorimotor endophenotype findings directly to genes. Conclusions: Results indicate rapid sensorimotor behaviors are selectively impacted in BAP- probands and their parents and may reflect familial liabilities for ASD that are independent of familial autistic traits. Sustained sensorimotor behaviors were affected in BAP+ probands and BAP- parents reflecting familial traits that may only confer risk when combined with parental autistic trait liabilities. These findings provide new evidence that rapid and sustained sensorimotor alterations represent strong but separate familial pathways of ASD risk that demonstrate unique interactions with mechanisms related to parental autistic traits.

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PPA: Principal Parcellation Analysis for Brain Connectomes and Multiple Traits

Liu¹,

Li²,

Dunson³

2021

Preprint

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Our understanding of the structure of the brain and its relationships with human traits is largely determined by how we represent the structural connectome. Standard practice divides the brain into regions of interest (ROIs) and represents the connectome as an adjacency matrix having cells measuring connectivity between pairs of ROIs. Statistical analyses are then heavily driven by the (largely arbitrary) choice of ROIs. In this article, we propose a novel tractography-based representation of brain connectomes, which clusters fiber endpoints to define a data adaptive parcellation targeted to explain variation among individuals and predict human traits. This representation leads to Principal Parcellation Analysis (PPA), representing individual brain connectomes by compositional vectors building on a basis system of fiber bundles that captures the connectivity at the population level. PPA reduces subjectivity and facilitates statistical analyses. We illustrate the proposed approach through applications to data from the Human Connectome Project (HCP) and show that PPA connectomes improve power in predicting human traits over state-of-the-art methods based on classical connectomes, while dramatically improving parsimony and maintaining interpretability. Our PPA package is publicly available on GitHub, and can be implemented routinely for diffusion tensor image data.

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Neural and Genetic Bases for Human Ability Traits

Cited by 3 publications

References 65 publications

Genetic and Environmental Variation in Continuous Phenotypes in the ABCD Study®

Genetic and Environmental Variation in Continuous Phenotypes in the ABCD Study®

Sensorimotor Behavior in Individuals with Autism Spectrum Disorder and Their Unaffected Biological Parents

PPA: Principal Parcellation Analysis for Brain Connectomes and Multiple Traits

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