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

Hermine H.M. Maes, Dana M. Lapato, J. Eric Schmitt, Monica Luciana, Marie T. Banich, James M. Bjork, John K. Hewitt, Pamela A. Madden, Andrew C. Heath, Deanna M. Barch, Wes K. Thompson, William G. Iacono, Michael C. Neale

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Twin studies yield valuable insights into the sources of variation, covariation and causation in human traits. The ABCD Study® ( 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.

Original languageEnglish (US)
Pages (from-to)1-24
Number of pages24
JournalBehavior genetics
Issue number1
StatePublished - Feb 2023

Bibliographical note

Funding Information:
Data used in the preparation of this article were obtained from the Adolescent Brain Cognitive Development (ABCD) Study® ( ), held in the NIMH Data Archive (NDA). This is a multisite, longitudinal study designed to recruit more than 10,000 children age 9–10 and follow them over 10 years into early adulthood. The ABCD Study® is supported by the National Institutes of Health and additional federal partners under award numbers U01DA041022, U01DA041025, U01DA041028, U01DA041048, U01DA041089, U01DA041093, U01DA041106, U01DA041117, U01DA041120, U01DA041134, U01DA041148, U01DA041156, U01DA041174, U24DA041123, U24DA041147, U01DA050987, U01DA050988, U01DA050989, U01DA050988, U01DA051018, U01DA051037, U01DA051038, U01DA051039. A full list of supporters is available at . A listing of participating sites and a complete listing of the study investigators can be found at . ABCD consortium investigators designed and implemented the study and/or provided data but did not necessarily participate in analysis or writing of this report. This manuscript reflects the views of the authors and may not reflect the opinions or views of the NIH or ABCD consortium investigators. The ABCD data repository grows and changes over time. The ABCD data used in this report came from [ ].

Publisher Copyright:
© 2022, The Author(s).


  • ABCD
  • Adolescence
  • Children
  • Cognition
  • Cognitive abilities
  • Environment
  • FAIR data
  • Genetics
  • Heritability
  • Neuroscience
  • Open science
  • Personality
  • Psychiatric disorders
  • Substance use
  • Twin


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