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    Identification of common variants associated with human hippocampal and intracranial volumes

    Stein, Jason L and Medland, Sarah E and Vasquez, Alejandro Arias and Hibar, Derrek P and Senstad, Rudy E and Winkler, Anderson M and Toro, Roberto and Appel, Katja and Bartecek, Richard and Bergmann, Ørjan and Bernard, Manon and Brown, Andrew A and Cannon, Dara M and Chakravarty, M Mallar and Christoforou, Andrea and Domin, Martin and Grimm, Oliver and Hollinshead, Marisa and Holmes, Avram J and Homuth, Georg and Hottenga, Jouke-Jan and Langan, Camilla and Lopez, Lorna M. and Hansell, Narelle K and Hwang, Kristy S and Kim, Sungeun and Laje, Gonzalo and Lee, Phil H and Liu, Xinmin and Loth, Eva and Lourdusamy, Anbarasu and Mattingsdal, Morten and Mohnke, Sebastian and Maniega, Susana Muñoz and Nho, Kwangsik and Nugent, Allison C and O'Brien, Carol and Papmeyer, Martina and Pütz, Benno and Ramasamy, Adaikalavan and Rasmussen, Jerod and Rijpkema, Mark and Risacher, Shannon L and Roddey, J Cooper and Rose, Emma J and Ryten, Mina and Shen, Li and Sprooten, Emma and Strengman, Eric and Teumer, Alexander and Trabzuni, Daniah and Turner, Jessica and van Eijk, Kristel and van Erp, Theo G M and van Tol, Marie-Jose and Wittfeld, Katharina and Wolf, Christiane and Woudstra, Saskia and Aleman, Andre and Alhusaini, Saud and Almasy, Laura and Binder, Elisabeth B and Brohawn, David G and Cantor, Rita M and Carless, Melanie A and Corvin, Aiden and Czisch, Michael and Curran, Joanne E and Davies, Gail and de Almeida, Marcio A A and Delanty, Norman and Depondt, Chantal and Duggirala, Ravi and Dyer, Thomas D and Erk, Susanne and Fagerness, Jesen and Fox, Peter T and Freimer, Nelson B and Gill, Michael and Göring, Harald H H and Hagler, Donald J and Hoehn, David and Holsboer, Florian and Hoogman, Martine and Hosten, Norbert and Jahanshad, Neda and Johnson, Matthew P and Kasperaviciute, Dalia and Kent, Jack W and Kochunov, Peter and Lancaster, Jack L and Lawrie, Stephen M and Liewald, David C and Mandl, René and Matarin, Mar and Mattheisen, Manuel and Meisenzahl, Eva and Melle, Ingrid and Moses, Eric K and Mühleisen, Thomas W and Nauck, Matthias and Nöthen, Markus M and Olvera, Rene L and Pandolfo, Massimo and Pike, G Bruce and Puls, Ralf and Reinvang, Ivar and Rentería, Miguel E and Rietschel, Marcella and Roffman, Joshua L and Royle, Natalie A and Rujescu, Dan and Savitz, Jonathan and Schnack, Hugo G and Schnell, Knut and Seiferth, Nina and Smith, Colin and Steen, Vidar M and Valdés Hernández, Maria C and Van den Heuvel, Martijn and van der Wee, Nic J and Van Haren, Neeltje E M and Veltman, Joris A and Völzke, Henry and Walker, Robert and Westlye, Lars T and Whelan, Christopher D and Agartz, Ingrid and Boomsma, Dorret I and Cavalleri, Gianpiero L and Dale, Anders M and Djurovic, Srdjan and Drevets, Wayne C and Hagoort, Peter and Hall, Jeremy and Heinz, Andreas and Jack, Clifford R and Foroud, Tatiana M and Le Hellard, Stephanie and Macciardi, Fabio and Montgomery, Grant W and Poline, Jean Baptiste and Porteous, David J and Sisodiya, Sanjay M and Starr, John M and Sussmann, Jessika and Toga, Arthur W and Veltman, Dick J and Walter, Henrik and Weiner, Michael W and Bis, Joshua C and Ikram, M Arfan and Smith, Albert V and Gudnason, Vilmundur and Tzourio, Christophe and Vernooij, Meike W and Launer, Lenore J and DeCarli, Charles and Seshadri, Sudha and Andreassen, Ole A and Apostolova, Liana G and Bastin, Mark E and Blangero, John and Brunner, Han G and Buckner, Randy L and Cichon, Sven and Coppola, Giovanni and de Zubicaray, Greig I and Deary, Ian J and Donohoe, Gary and de Geus, Eco J C and Espeseth, Thomas and Fernández, Guillén and Glahn, David C and Grabe, Hans J and Hardy, John and Hulshoff Pol, Hilleke E and Jenkinson, Mark and Kahn, René S and McDonald, Colm and McIntosh, Andrew M and McMahon, Francis J and McMahon, Katie L and Meyer-Lindenberg, Andreas and Morris, Derek W and Müller-Myhsok, Bertram and Nichols, Thomas E and Ophoff, Roel A and Paus, Tomas and Pausova, Zdenka and Penninx, Brenda W and Potkin, Steven G and Sämann, Philipp G and Saykin, Andrew J and Schumann, Gunter and Smoller, Jordan W and Wardlaw, Joanna M and Weale, Michael E and Martin, Nicholas G and Franke, Barbara and Wright, Margaret J and Thompson, Paul M (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics, 44 (5). pp. 552-561. ISSN 1061-4036

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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 disease1,2 and is reduced in schizophrenia3, major depression4 and mesial temporal lobe epilepsy5. Whereas many brain imaging phenotypes are highly heritable6,7, 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).

    Item Type: Article
    Keywords: Identification; common variants; human hippocampal; intracranial volumes;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 17330
    Identification Number:
    Depositing User: Lorna Lopez
    Date Deposited: 19 Jun 2023 10:48
    Journal or Publication Title: Nature Genetics
    Publisher: Nature Research
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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