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Absolute and relative estimates of genetic and environmental variance in brain structure volumes


Comparing estimates of the amount of genetic and environmental variance for different brain structures may elucidate differences in the genetic architecture or developmental constraints of individual brain structures. However, most studies compare estimates of relative genetic (heritability) and environmental variance in brain structure, which do not reflect differences in absolute variance between brain regions. Here we used a population sample of young adult twins and singleton siblings of twins (n = 791; M = 23 years, Queensland Twin IMaging study) to estimate the absolute genetic and environmental variance, standardised by the phenotypic mean, in the size of cortical, subcortical, and ventricular brain structures. Mean-standardised genetic variance differed widely across structures [23.5-fold range 0.52% (hippocampus) to 12.28% (lateral ventricles)], but the range of estimates within cortical, subcortical, or ventricular structures was more moderate (two to fivefold range). There was no association between mean-standardised and relative measures of genetic variance (i.e., heritability) in brain structure volumes. We found similar results in an independent sample (n = 1075, M = 29 years, Human Connectome Project). These findings open important new lines of enquiry: namely, understanding the bases of these variance patterns, and their implications regarding the genetic architecture, evolution, and development of the human brain.

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We are forever grateful to the twins and siblings for their willingness to participate in our studies. We thank Marlene Grace and Ann Eldridge for participant recruitment; Kerrie McAloney for study co-ordination; Kori Johnson, Aaron Quiggle, Natalie Garden, Matthew Meredith, Peter Hobden, Kate Borg, Aiman Al Najjar and Anita Burns for data acquisition; David Butler and Daniel Park for IT support. We additionally thank the two anonymous reviewers whose comments and suggestions helped improve this manuscript.


The QTIM study was supported by the National Institute of Child Health and Human Development (R01 HD050735), and the National Health and Medical Research Council (NHMRC 486682, 1009064), Australia. Lachlan Strike was supported by an Australian Postgraduate Award (APA) scholarship and a Queensland Brain Institute (QBI) top-up scholarship. Data were provided [in part] by the Human Connectome Project, WU-Minn Consortium (Principal Investigators: David Van Essen and Kamil Ugurbil; 1U54MH091657) funded by the 16 NIH Institutes and Centers that support the NIH Blueprint for Neuroscience Research; and by the McDonnell Center for Systems Neuroscience at Washington University.

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Strike, L.T., Hansell, N.K., Thompson, P.M. et al. Absolute and relative estimates of genetic and environmental variance in brain structure volumes. Brain Struct Funct 224, 2805–2821 (2019).

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