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Novel genetic loci underlying human intracranial volume identified through genome-wide association
Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Erasmus MC, Dept Radiol & Nucl Med, Rotterdam, Netherlands..
Univ Southern Calif, Keck Sch Med, USC Mark & Mary Stevens Neuroimaging & Informat I, Imaging Genet Ctr, Los Angeles, CA USA..
Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA.;Univ Lille, RID AGE Risk Factors & Mol Determinants Aging Rel, CHU Lille, Inserm,Inst Pasteur Lille, Lille, France.;Framingham Heart Dis Epidemiol Study, Framingham, MA USA..
Univ Southern Calif, Keck Sch Med, USC Mark & Mary Stevens Neuroimaging & Informat I, Imaging Genet Ctr, Los Angeles, CA USA.;Univ N Carolina, Dept Genet, Chapel Hill, NC USA.;Univ N Carolina, UNC Neurosci Ctr, Chapel Hill, NC USA..
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2016 (English)In: Nature Neuroscience, ISSN 1097-6256, E-ISSN 1546-1726, Vol. 19, no 12, p. 1569-1582Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2016. Vol. 19, no 12, p. 1569-1582
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-311497DOI: 10.1038/nn.4398ISI: 000389011900016PubMedID: 27694991OAI: oai:DiVA.org:uu-311497DiVA, id: diva2:1060468
Funder
NIH (National Institute of Health), N01-AG-1-2100 271201200022C R01MH62873 K99MH102357 R01 HD050735 P30AG10161 RF1AG15819 R01AG17917 R01AG30146 R01AG40039 5R01AG037212 HHSN268200625226C R01D0042157-01A MH081802 1RC2 MH089951 1RC2 MH089995EU, European Research Council, 602450 278948 602805 643051 ERC-230374Knut and Alice Wallenberg FoundationRagnar Söderbergs stiftelseTorsten Söderbergs stiftelseWellcome trust, 084730 082604/2/07/ZSwedish Research Council, K2007-62X-15077-04-1 K2008-62P-20597-01-3 K2010-62X-15078-07-2 K2012-61X-15078-09-3Stockholm County CouncilThe Karolinska Institutet's Research FoundationAustralian Research Council, FT0991634Available from: 2016-12-28 Created: 2016-12-28 Last updated: 2018-10-16Bibliographically approved

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