Identification of common variants associated with human hippocampal and intracranial volumes

J.L. Stein, S.E. Medland, A. Arias-Vasquez, D.P. Hibar, R.E. Senstad, A.M. Winkler, R. Toro, K. Appel, R. Bartecek, O. Bergmann, J.J. Hottenga, D.I. Boomsma, G.W. Montgomery, E.J.C. de Geus, H.E. Hulshoff Pol, R.S. Kahn, B.W.J.H. Penninx, P.G. Sämann, A.J. Saykin, G. SchumannJ.W. Smoller, J.M. Wardlaw, M.E. Weale, N.G. Martin, B. Franke, M.J. Wright, P.M. Thompson

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Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10
Original languageEnglish
Pages (from-to)552-561
JournalNature Genetics
Issue number5
Publication statusPublished - 2012

Cohort Studies

  • Netherlands Twin Register (NTR)

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