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

Brain Struct Funct. 2019 Nov;224(8):2805-2821. doi: 10.1007/s00429-019-01931-8. Epub 2019 Aug 19.


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.

Keywords: Genetics; Magnetic resonance imaging; Twins; Volume.

Publication types

  • Twin Study

MeSH terms

  • Adult
  • Brain / anatomy & histology*
  • Brain / physiology*
  • Connectome
  • Female
  • Gene-Environment Interaction*
  • Humans
  • Male
  • Quantitative Trait, Heritable
  • Twins, Dizygotic
  • Twins, Monozygotic
  • Young Adult