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2014 ; 13
(8
): 821-30
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Genetic architecture of subcortical brain regions: common and region-specific
genetic contributions
#MMPMID25199620
Renterķa ME
; Hansell NK
; Strike LT
; McMahon KL
; de Zubicaray GI
; Hickie IB
; Thompson PM
; Martin NG
; Medland SE
; Wright MJ
Genes Brain Behav
2014[Nov]; 13
(8
): 821-30
PMID25199620
show ga
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.