
Genetic architecture of subcortical brain regions: common and region‐specific genetic contributions
Author(s) -
Rentería M. E.,
Hansell N. K.,
Strike L. T.,
McMahon K. L.,
de Zubicaray G. I.,
Hickie I. B.,
Thompson P. M.,
Martin N. G.,
Medland S. E.,
Wright M. J.
Publication year - 2014
Publication title -
genes, brain and behavior
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.315
H-Index - 91
eISSN - 1601-183X
pISSN - 1601-1848
DOI - 10.1111/gbb.12177
Subject(s) - putamen , heritability , genetic architecture , nucleus accumbens , neuroscience , biology , amygdala , caudate nucleus , twin study , thalamus , brain size , psychology , evolutionary biology , genetics , medicine , central nervous system , gene , quantitative trait locus , magnetic resonance imaging , radiology
Understanding the aetiology of patterns of variation within and covariation across brain regions is key to advancing our understanding of the functional, anatomical and developmental networks of the brain. Here we applied multivariate twin modelling and principal component analysis ( PCA ) to investigate the genetic architecture of the size of seven subcortical regions (caudate nucleus, thalamus, putamen, pallidum, hippocampus, amygdala and nucleus accumbens) in a genetically informative sample of adolescents and young adults ( N = 1038; mean age = 21.6 ± 3.2 years; including 148 monozygotic and 202 dizygotic twin pairs) from the Queensland Twin IMaging ( QTIM ) study. Our multivariate twin modelling identified a common genetic factor that accounts for all the heritability of intracranial volume (0.88) and a substantial proportion of the heritability of all subcortical structures, particularly those of the thalamus (0.71 out of 0.88), pallidum (0.52 out of 0.75) and putamen (0.43 out of 0.89). In addition, we also found substantial region‐specific genetic contributions to the heritability of the hippocampus (0.39 out of 0.79), caudate nucleus (0.46 out of 0.78), amygdala (0.25 out of 0.45) and nucleus accumbens (0.28 out of 0.52). This provides further insight into the extent and organization of subcortical genetic architecture, which includes developmental and general growth pathways, as well as the functional specialization and maturation trajectories that influence each subcortical region.