Identification of common variants associated with human hippocampal and intracranial volumes

Stein, J. L., Medland, S. E., Vasquez, A. A., Hibar, D. P., Senstad, R. E., Winkler, A. M., Toro, R., Appel, K., Bartecek, R., Bergmann, O., Bernard, M., Brown, A. A., Cannon, D. M., Chakravarty, M. M., Christoforou, A., Domin, M., Grimm, O., Hollinshead, M., Holmes, A. J., Homuth, G., Hottenga, J. J., Langan, C., Lopez, L. M., Hansell, N. K., Hwang, K. S., Kim, S., Laje, G., Lee, P. H., Liu, X., Loth, E., Lourdusamy, A., Mattingsdal, M., Mohnke, S., Maniega, S. M., Nho, K., Nugent, A. C., O'Brien, C., Papmeyer, M., Pütz, B., Ramasamy, A., Rasmussen, J., Rijpkema, M., Risacher, S. L., Roddey, J. C., Rose, E. J., Ryten, M., Shen, L., Sprooten, E., Strengman, E., Teumer, A., Trabzuni, D., Turner, J., Van Eijk, K., Van Erp, T. G. M., Van Tol, M. J., Wittfeld, K., Wolf, C., Woudstra, S., Aleman, A., Alhusaini, S., Almasy, L., Binder, E. B., Brohawn, D. G., Cantor, R. M., Carless, M. A., Corvin, A., Czisch, M., Curran, J. E., Davies, G., De Almeida, M. A. A., Delanty, N., Depondt, C., Duggirala, R., Dyer, T. D., Erk, S., Fagerness, J., Fox, P. T., Freimer, N. B., Gill, M., Göring, H. H. H., Hagler, D. J., Hoehn, D., Holsboer, F., Hoogman, M., Hosten, N., Jahanshad, N., Johnson, M. P., Kasperaviciute, D., Kent, J. W., Kochunov, P., Lancaster, J. L., Lawrie, S. M., Liewald, D. C., Mandl, R., Matarin, M., Mattheisen, M., Meisenzahl, E., Melle, I., Moses, E. K., Mühleisen, T. W., Nauck, M., Nöthen, M. M., Olvera, R. L., Pandolfo, M., Pike, G. B., Puls, R., Reinvang, I., Rentería, M. E., Rietschel, M., Roffman, J. L., Royle, N. A., Rujescu, D., Savitz, J., Schnack, H. G., Schnell, K., Seiferth, N., Smith, C., Steen, V. M., Hernández, M. C. V., Van Den Heuvel, M., Van Der Wee, N. J., Van Haren, N. E. M., Veltman, J. A., Völzke, H., Walker, R., Westlye, L. T., Whelan, C. D., Agartz, I., Boomsma, D. I., Cavalleri, G. L., Dale, A. M., Djurovic, S., Drevets, W. C., Hagoort, P., Hall, J., Heinz, A., Jack, C. R., Foroud, T. M., Le Hellard, S., Macciardi, F., Montgomery, G. W., Poline, J. B., Porteous, D. J., Sisodiya, S. M., Starr, J. M., Sussmann, J., Toga, A. W., Veltman, D. J., Walter, H., Weiner, M. W., Bis, J. C., Ikram, M. A., Smith, A. V., Gudnason, V., Tzourio, C., Vernooij, M. W., Launer, L. J., Decarli, C., Seshadri, S., Andreassen, O. A., Apostolova, L. G., Bastin, M. E., Blangero, J., Brunner, H. G., Buckner, R. L., Cichon, S., Coppola, G., de Zubicaray, G. I., Deary, I. J., Donohoe, G., De Geus, E. J. C., Espeseth, T., Fernéndez, G., Glahn, D. C., Grabe, H. J., Hardy, J., Hulshoff Pol, H. E., Jenkinson, M., Kahn, R. S., McDonald, C., McIntosh, A. M., McMahon, F. J., McMahon, K. L., Meyer-Lindenberg, A., Morris, D. W., Müller-Myhsok, B., Nichols, T. E., Ophoff, R. A., Paus, T., Pausova, Z., Penninx, B. W., Potkin, S. G., Sämann, P. G., Saykin, A. J., Schumann, G., Smoller, J. W., Wardlaw, J. M., Weale, M. E., Martin, N. G., Franke, B., Wright, M. J., & Thompson, P. M. (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics, 44(5), pp. 552-561.

View at publisher


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 -16) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10 -12). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10 -7).

Impact and interest:

281 citations in Scopus
258 citations in Web of Science®
Search Google Scholar™

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 85838
Item Type: Journal Article
Refereed: Yes
DOI: 10.1038/ng.2250
ISSN: 1546-1718
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2012 Nature America, Inc
Deposited On: 28 Sep 2015 06:39
Last Modified: 25 Jun 2017 05:02

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page