hide
Free keywords:
-
Abstract:
Intracranial volume reflects the maximally attained brain size during
development, and remains stable with loss of tissue in late life. It is
highly heritable, but the underlying genes remain largely undetermined.
In a genome-wide association study of 32,438 adults, we discovered five
previously unknown loci for intracranial volume and confirmed two known
signals. Four of the loci were also associated with adult human stature,
but these remained associated with intracranial volume after adjusting
for height. We found a high genetic correlation with child head
circumference (rho(genetic) = 0.748), which indicates a similar genetic
background and allowed us to identify four additional loci through
meta-analysis (N-combined = 37,345). Variants for intracranial volume
were also related to childhood and adult cognitive function, and
Parkinson's disease, and were enriched near genes involved in growth
pathways, including PI3K-AKT signaling. These findings identify the
biological underpinnings of intracranial volume and their link to
physiological and pathological traits.