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Nature Research, Nature Neuroscience, 12(19), p. 1569-1582, 2016

DOI: 10.1038/nn.4398

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Novel genetic loci underlying human intracranial volume identified through genome-wide association

Journal article published in 2016 by Jeroen van der Grond, Aad van der Lugt, Marjolein M. J. van Donkelaar, Kristel R. van Eijk, D. van der Meer, Marcel van der Brug, Nic J. A. van der Wee, Cornelia M. van Duijn, Neeltje E. M. van Haren, Marie-Jose van Tol, Hieab H. Hhh Adams ORCID, Derrek P. Hibar, Vincent Chouraki, Jason L. Stein, Paul A. Nyquist and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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 (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. 2016 Nature America, Inc., part of Springer Nature. All rights reserved.