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27 results on '"Puetz, Benno"'

2. Functional MRI applications for psychiatric disease subtyping: a review

Author

Miranda, Lucas, Paul, Riya, Pütz, Benno, and Müller-Myhsok, Bertram

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

Psychiatric disorders have historically been classified using symptom information alone. With the advent of new technologies that allowed researchers to investigate brain mechanisms more directly, interest in the mechanistic rationale behind defined pathologies and aetiology redefinition has greatly increased. This is particularly appealing for the field of personalised medicine, which searches for data-driven approaches to improve individual diagnosis, prognosis and treatment selection. Here we intend to systematically analyse the usage of functional MRI on both the elucidation of psychiatric disease biotypes and the interpretation of subtypes obtained via unsupervised learning applied to symptom or biomarker data. We searched the existing literature for functional MRI applications to the obtention or interpretation of psychiatric disease subtypes. The PRISMA guidelines were applied to filter the retrieved studies, and the active learning framework ASReviews was applied for article prioritization. From the 20 studies that met the inclusion criteria, 5 used functional MRI data to interpret symptom-derived disease clusters, 4 used it for the interpretation of clusters derived from biomarker data other than fMRI itself, and 11 applied clustering to fMRI directly. Major depression disorder and schizophrenia were the two most studied pathologies, followed by ADHD, psychosis, autism disorder, and early violence. No trans-diagnostic studies were retrieved. While interest in personalised medicine and data-driven disease subtyping is on the rise and psychiatry is not the exception, unsupervised analyses of functional MRI data are inconsistent to date, and much remains to be done in terms of gathering and centralising data, standardising pipelines and model validation, and method refinement. The usage of fMRI in the field of trans-diagnostic psychiatry remains vastly unexplored., Comment: 16 pages, 2 figures, 3 tables

Published
2020

4. Resistance to antidepressant treatment is associated with polymorphisms in the leptin gene, decreased leptin mRNA expression, and decreased leptin serum levels

Author

Kloiber, Stefan, Ripke, Stephan, Kohli, Martin A., Reppermund, Simone, Salyakina, Daria, Uher, Rudolf, McGuffin, Peter, Perlis, Roy H., Hamilton, Steven P., Pütz, Benno, Hennings, Johannes, Brückl, Tanja, Klengel, Torsten, Bettecken, Thomas, Ising, Marcus, Uhr, Manfred, Dose, Tatjana, Unschuld, Paul G., Zihl, Josef, Binder, Elisabeth, Müller-Myhsok, Bertram, Holsboer, Florian, and Lucae, Susanne

Published
2013
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10. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady, V, Smith, Albert, V, Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom, V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivieres, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentera, Miguel E., Kim, Sungeun, Hoehn, David, Armstrong, Nicola J., Chen, Qiang, Holmes, Avram J., den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santianez, Roberto, Kraemer, Bernd, Haberg, Asta K., Jones, Hannah J., Pike, G. Bruce, Stein, Dan J., Stevens, Allison, Bralten, Janita, Vernooij, Meike W., Harris, Tamara B., Filippi, Irina, Witte, A. Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H., Becker, James T., Doan, Nhat Trung, Hagenaars, Saskia P., Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M., Ames, David, Goldman, Aaron L., Lee, Phil H., Boomsma, Dorret, I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M., Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M., Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E., Shin, Jean, Ipser, Jonathan C., Vinke, Louis N., Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K., Aribisala, Benjamin S., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Puetz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Masouleh, Shahrzad Kharabian, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome, I, Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig, I, Wong, Tien Yin, Shen, Li, Saemann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Hernandez, Maria C. Valdes, Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Loohuis, Loes M. Olde, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C., Thalamuthu, Anbupalam, Mohnke, Sebastian, Pol, Hilleke E. Hulshoff, Lin, Honghuang, Jack, Clifford R., Jr., Schofield, Peter R., Muehleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Smith, George Davey, Launer, Lenore J., Nyberg, Lars, Jonsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, Andre G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, William T., Jr., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaitre, Herve, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Mueller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, Rene S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Voelzke, Henry, Wright, Margaret J., van't Ent, Dennis, Noethen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernandez, Guilln, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stephanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, Ikram, M. Arfan, Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady, V, Smith, Albert, V, Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom, V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivieres, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentera, Miguel E., Kim, Sungeun, Hoehn, David, Armstrong, Nicola J., Chen, Qiang, Holmes, Avram J., den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santianez, Roberto, Kraemer, Bernd, Haberg, Asta K., Jones, Hannah J., Pike, G. Bruce, Stein, Dan J., Stevens, Allison, Bralten, Janita, Vernooij, Meike W., Harris, Tamara B., Filippi, Irina, Witte, A. Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H., Becker, James T., Doan, Nhat Trung, Hagenaars, Saskia P., Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M., Ames, David, Goldman, Aaron L., Lee, Phil H., Boomsma, Dorret, I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M., Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M., Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E., Shin, Jean, Ipser, Jonathan C., Vinke, Louis N., Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K., Aribisala, Benjamin S., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Puetz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Masouleh, Shahrzad Kharabian, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome, I, Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig, I, Wong, Tien Yin, Shen, Li, Saemann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Hernandez, Maria C. Valdes, Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Loohuis, Loes M. Olde, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C., Thalamuthu, Anbupalam, Mohnke, Sebastian, Pol, Hilleke E. Hulshoff, Lin, Honghuang, Jack, Clifford R., Jr., Schofield, Peter R., Muehleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Smith, George Davey, Launer, Lenore J., Nyberg, Lars, Jonsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, Andre G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, William T., Jr., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaitre, Herve, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Mueller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, Rene S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Voelzke, Henry, Wright, Margaret J., van't Ent, Dennis, Noethen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernandez, Guilln, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stephanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, and Ikram, M. Arfan

Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Published
2019
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12. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry : a meta-analysis

Author

Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V., Puetz, Benno, Dauvilliers, Yves, Stefani, Ambra, Hoegl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornelius G., Paulus, Walter, Trenkwalder, Claudia, Oertel, Wolfgang H., Hornyak, Magdolna, Teder-Laving, Maris, Metspalu, Andres, Hadjigeorgiou, Georgios M., Polo, Olli, Fietze, Ingo, Ross, Owen A., Wszolek, Zbigniew, Butterworth, Adam S., Soranzo, Nicole, Ouwehand, Willem H., Roberts, David J., Danesh, John, Allen, Richard P., Earley, Christopher J., Ondo, William G., Xiong, Lan, Montplaisir, Jacques, Gan-Or, Ziv, Perola, Markus, Vodicka, Pavel, Dina, Christian, Franke, Andre, Tittmann, Lukas, Stewart, Alexandre F. R., Shah, Svati H., Gieger, Christian, Peters, Annette, Rouleau, Guy A., Berger, Klaus, Oexle, Konrad, Di Angelantonio, Emanuele, Hinds, David A., Mueller-Myhsok, Bertram, Collaboration 23andMe Res Team, DESIR Study Grp, and Institute for Molecular Medicine Finland

Subjects
NEUROGENESIS, GENES, DIAGNOSTIC-CRITERIA, IRON HOMEOSTASIS, SYNAPSE DEVELOPMENT, 3112 Neurosciences, PROTEIN, ORGANIZATION, SPINAL-CORD, BRAIN, EKBOM DISEASE, 3124 Neurology and psychiatry
Abstract

Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. Methods In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p Findings We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1.92, 95% CI 1 85-1.99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Interpretation Identification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations.

Published
2017

14. Novel genetic loci associated with hippocampal volume

Author

Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivieres, Sylvane, Vernooij, Meike W., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H., Beiser, Alexa, Bernard, Manon, Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M., Carmichael, Owen, Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L., Gottesman, Rebecca F., Grimm, Oliver, Griswold, Michael E., Guadalupe, Tulio, Gutman, Boris A., Hass, Johanna, Haukvik, Unn K., Hoehn, David, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jorgensen, Kjetil N., Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre F., Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, McKay, David R., Milaneschi, Yuri, Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Nyquist, Paul, Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Puetz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, Philipp G., Saremi, Arvin, Satizabal, Claudia L., Schmaal, Lianne, Schork, Andrew J., Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V., Sprooten, Emma, Strike, Lachlan T., Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J., van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Craen, Anton J. M., De Geus, Eco J. C., De Jager, Philip L., De Zubicaray, Greig I., Deary, Ian J., Debette, Stephanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Fornage, Myriam, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Haberg, Asta K., Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Joensson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Nothen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R., Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hilkka, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J. A., Van Haren, Neeltje E. M., van't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N., Vellas, Bruno, Veltman, Dick J., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, Ronald H., Zonderman, Alan B., Martin, Nicholas G., Van Duijn, Cornelia M., Wright, Margaret J., Longstreth, W. T., Schumann, Gunter, Grabe, Hans J., Franke, Barbara, Launer, Lenore J., Medland, Sarah E., Seshadri, Sudha, Thompson, Paul M., Ikram, M. Arfan, Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivieres, Sylvane, Vernooij, Meike W., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H., Beiser, Alexa, Bernard, Manon, Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M., Carmichael, Owen, Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L., Gottesman, Rebecca F., Grimm, Oliver, Griswold, Michael E., Guadalupe, Tulio, Gutman, Boris A., Hass, Johanna, Haukvik, Unn K., Hoehn, David, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jorgensen, Kjetil N., Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre F., Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, McKay, David R., Milaneschi, Yuri, Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Nyquist, Paul, Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Puetz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, Philipp G., Saremi, Arvin, Satizabal, Claudia L., Schmaal, Lianne, Schork, Andrew J., Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V., Sprooten, Emma, Strike, Lachlan T., Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J., van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Craen, Anton J. M., De Geus, Eco J. C., De Jager, Philip L., De Zubicaray, Greig I., Deary, Ian J., Debette, Stephanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Fornage, Myriam, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Haberg, Asta K., Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Joensson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Nothen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R., Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hilkka, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J. A., Van Haren, Neeltje E. M., van't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N., Vellas, Bruno, Veltman, Dick J., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, Ronald H., Zonderman, Alan B., Martin, Nicholas G., Van Duijn, Cornelia M., Wright, Margaret J., Longstreth, W. T., Schumann, Gunter, Grabe, Hans J., Franke, Barbara, Launer, Lenore J., Medland, Sarah E., Seshadri, Sudha, Thompson, Paul M., and Ikram, M. Arfan

Abstract

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Published
2017
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15. Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

Author

Schulz, Herbert, Ruppert, Ann-Kathrin, Herms, Stefan, Wolf, Christiane, Mirza-Schreiber, Nazanin, Stegle, Oliver, Czamara, Darina, Forstner, Andreas J., Sivalingam, Sugirthan, Schoch, Susanne, Moebus, Susanne, Puetz, Benno, Hillmer, Axel, Fricker, Nadine, Vatter, Hartmut, Mueller-Myhsok, Bertram, Noethen, Markus M., Becker, Albert J., Hoffmann, Per, Sander, Thomas, Cichon, Sven, Schulz, Herbert, Ruppert, Ann-Kathrin, Herms, Stefan, Wolf, Christiane, Mirza-Schreiber, Nazanin, Stegle, Oliver, Czamara, Darina, Forstner, Andreas J., Sivalingam, Sugirthan, Schoch, Susanne, Moebus, Susanne, Puetz, Benno, Hillmer, Axel, Fricker, Nadine, Vatter, Hartmut, Mueller-Myhsok, Bertram, Noethen, Markus M., Becker, Albert J., Hoffmann, Per, Sander, Thomas, and Cichon, Sven

Abstract

Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the cis-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify cis-meQTLs at 14,118 CpG methylation sites and cis-eQTLs for 302 3'-mRNA transcripts of 288 genes. Hippocampal cis-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs. Cis-acting SNPs of hippocampal meQTLs and eQTLs significantly overlap schizophrenia-associated SNPs. Correlations of CpG methylation and RNA expression are found for 34 genes. Our comprehensive maps of cis-acting hippocampal meQTLs and eQTLs provide a link between disease-associated SNPs and the regulatory genome that will improve the functional interpretation of non-coding genetic variants in the molecular genetic dissection of brain disorders.

Published
2017

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

Author

Adams, Hieab H. H., Hibar, Derrek P., Chouraki, Vincent, Stein, Jason L., Nyquist, Paul A., Renteria, Miguel E., Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivieres, Sylvane, Beecham, Ashley H., Jahanshad, Neda, Wittfeld, Katharine, Van der Lee, Sven J., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C., Blanken, Laura M. E., Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M., Carmichael, Owen, Chakravarty, M. Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Gottesman, Rebecca F., Greven, Corina U., Grimm, Oliver, Griswold, Michael E., Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K., Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liao, Jiemin, Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mazoyer, Bernard, Mckay, David R., McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L., Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Puetz, Benno, Rajan, Kumar B., Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, Philipp G., Satizabal, Claudia L., Schmaal, Lianne, Schork, Andrew J., Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V., Sprooten, Emma, Strike, Lachlan T., Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Aggarwal, Neelum T., Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Chen, Christopher, Cheng, Ching -Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Geus, Eco J. C., De Jager, Philip L., de Zubicaray, Greig I., Delanty, Norman, Depondt, Chantal, DeStefano, Anita L., Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Espeseth, Thomas, Evans, Denis A., Fedko, Iryna, Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Grabe, Hans J., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Ikram, M. Kamran, Jack, Clifford R., Jr., Jenldnson, Mark, Johnson, Robert, Jonsson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Longstreth, W. T., Jr., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Katie L., McMahon, Francis J., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Noethen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schofield, Peter R., Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hindu., Srikanth, Velandai, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J. A., Van Duijn, Cornelia M., Van Haren, Neeltje E. M., Van't Ent, Dennis, Van Tol, Marie Jose, Vardarajan, Badri N., Veltman, Dick J., Vernooij, Meike W., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, H. Ronald, Zonderman, Alan B., Deary, Ian J., DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G., De Craen, Anton J. M., Wright, Margaret J., Launer, Lenore J., Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stephanie, Medland, Sarah E., Ikram, M. Arfan, Thompson, Paul M., Adams, Hieab H. H., Hibar, Derrek P., Chouraki, Vincent, Stein, Jason L., Nyquist, Paul A., Renteria, Miguel E., Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivieres, Sylvane, Beecham, Ashley H., Jahanshad, Neda, Wittfeld, Katharine, Van der Lee, Sven J., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C., Blanken, Laura M. E., Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M., Carmichael, Owen, Chakravarty, M. Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Gottesman, Rebecca F., Greven, Corina U., Grimm, Oliver, Griswold, Michael E., Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K., Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liao, Jiemin, Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mazoyer, Bernard, Mckay, David R., McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L., Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Puetz, Benno, Rajan, Kumar B., Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, Philipp G., Satizabal, Claudia L., Schmaal, Lianne, Schork, Andrew J., Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V., Sprooten, Emma, Strike, Lachlan T., Teumer, Alexander, Thomson, Russell, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Vaidya, Dhananjay, Van der Grond, Jeroen, van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Xu, Bing, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Aggarwal, Neelum T., Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Chen, Christopher, Cheng, Ching -Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Geus, Eco J. C., De Jager, Philip L., de Zubicaray, Greig I., Delanty, Norman, Depondt, Chantal, DeStefano, Anita L., Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Espeseth, Thomas, Evans, Denis A., Fedko, Iryna, Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Grabe, Hans J., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Ikram, M. Kamran, Jack, Clifford R., Jr., Jenldnson, Mark, Johnson, Robert, Jonsson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Longstreth, W. T., Jr., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Katie L., McMahon, Francis J., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Noethen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schofield, Peter R., Sigurdsson, Sigurdur, Simmons, Andy, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hindu., Srikanth, Velandai, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Tiemeier, Henning, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, Van der Lugt, Aad, Van der Wee, Nic J. A., Van Duijn, Cornelia M., Van Haren, Neeltje E. M., Van't Ent, Dennis, Van Tol, Marie Jose, Vardarajan, Badri N., Veltman, Dick J., Vernooij, Meike W., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, H. Ronald, Zonderman, Alan B., Deary, Ian J., DeCarli, Charles, Schmidt, Helena, Martin, Nicholas G., De Craen, Anton J. M., Wright, Margaret J., Launer, Lenore J., Schumann, Gunter, Fornage, Myriam, Franke, Barbara, Debette, Stephanie, Medland, Sarah E., Ikram, M. Arfan, and Thompson, Paul M.

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 (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.

Published
2016
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17. Common genetic variants influence human subcortical brain structures

Author

Hibar, Derrek P., Stein, Jason L., Renteria, Miguel E., Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S., Armstrong, Nicola J., Bernard, Manon, Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brown, Andrew A., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L., Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Loohuis, Loes M. Olde, Luciano, Michelle, Macare, Christine, Mather, Karen A., Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L., Roiz-Santianez, Roberto, Rose, Emma J., Salami, Alireza, Saemann, Philipp G., Schmaal, Lianne, Schork, Andrew J., Shin, Jean, Strike, Lachlan T., Teumer, Alexander, van Donkelaar, Marjolein M. J., van Eijk, Kristel R., Walters, Raymond K., Westlye, Lars T., Whelan, Christopher D., Winkler, Anderson M., Zwiers, Marcel P., Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H., Hartberg, Cecilie B., Haukvik, Unn K., Heister, Angelien J. G. A. M., Hoehn, David, Kasperaviciute, Dalia, Liewald, David C. M., Lopez, Lorna M., Makkinje, Remco R. R., Matarin, Mar, Naber, Marlies A. M., McKay, D. Reese, Needham, Margaret, Nugent, Allison C., Puetz, Benno, Royle, Natalie A., Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S. L., van Hulzen, Kimm J. E., Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A., Bastin, Mark E., Brodaty, Henry, Bulayeva, Kazima B., Carless, Melanie A., Cichon, Sven, Corvin, Aiden, Curran, Joanne E., Czisch, Michael, de Zubicaray, Greig I., Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Fedko, Iryna O., Ferrucci, Luigi, Foroud, Tatiana M., Fox, Peter T., Fukunaga, Masaki, Gibbs, J. Raphael, Goering, Harald H. H., Green, Robert C., Guelfi, Sebastian, Hansell, Narelle K., Hartman, Catharina A., Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G., Heslenfeld, Dirk J., Hoekstra, Pieter J., Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W., Jr., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Liu, Xinmin, Longo, Dan L., McMahon, Katie L., Meisenzah, Eva, Melle, Ingrid, Mahnke, Sebastian, Montgomery, Grant W., Mostert, Jeanette C., Muehleisen, Thomas W., Nalls, Michael A., Nichols, Thomas E., Nilsson, Lars G., Noethen, Markus M., Ohi, Kazutaka, Olvera, Rene L., Perez-Iglesias, Rocio, Pike, G. Bruce, Potkin, Steven G., Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D., Rujescu, Dan, Schnell, Knut, Schofield, Peter R., Smith, Colin, Steen, Vidar M., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Valdes Hernandez, Maria C., van't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J. A., van Tol, Marie-Jose, Veltman, Dick J., Wassink, Thomas H., Westman, Eric, Zielke, Ronald H., Zonderman, Alan B., Ashbrook, David G., Hager, Reinmar, Lu, Lu, McMahon, Francis J., Morris, Derek W., Williams, Robert W., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Cahn, Wiepke, Calhoun, Vince D., Cavalleri, Gianpiero L., Crespo-Facorro, Benedicto, Dale, Anders M., Davies, Gareth E., Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C., Espeseth, Thomas, Gollub, Randy L., Ho, Beng-Choon, Hoffman, Wolfgang, Hosten, Norbert, Kahn, Rene S., Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Mueller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W. J. H., Roffman, Joshua L., Sisodiya, Sanjay M., Smoller, Jordan W., van Bokhoven, Hans, van Haren, Neeltje E. M., Voelzke, Henry, Walter, Henrik, Weiner, Michael W., Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A., Blangero, John, Boomsma, Dorret I., Brouwer, Rachel M., Cannon, Dara M., Cookson, Mark R., de Geus, Eco J. C., Deary, Ian J., Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E., Francks, Clyde, Glahn, David C., Grabe, Hans J., Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Pol, Hilleke E. Hulshoff, Joensson, Erik G., Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S., Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M., Ophoff, Roel A., Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S., Saykin, Andrew J., Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M., Weale, Michael E., Weinberger, Daniel R., Adams, Hieab H. H., Launer, Lenore J., Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L., Becker, James T., Yanek, Lisa, van der Lee, Sven J., Ebling, Maritza, Fischl, Bruce, Longstreth, W. T., Jr., Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N., van Duijn, Cornelia M., Xue, Luting, Mazoyer, Bernard, Bis, Joshua C., Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M. Arfan, Martin, Nicholas G., Wright, Margaret J., Schumann, Gunter, Franke, Barbara, Thompson, Paul M., Jr., Medland, Sarah E., Hibar, Derrek P., Stein, Jason L., Renteria, Miguel E., Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S., Armstrong, Nicola J., Bernard, Manon, Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brown, Andrew A., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L., Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Loohuis, Loes M. Olde, Luciano, Michelle, Macare, Christine, Mather, Karen A., Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L., Roiz-Santianez, Roberto, Rose, Emma J., Salami, Alireza, Saemann, Philipp G., Schmaal, Lianne, Schork, Andrew J., Shin, Jean, Strike, Lachlan T., Teumer, Alexander, van Donkelaar, Marjolein M. J., van Eijk, Kristel R., Walters, Raymond K., Westlye, Lars T., Whelan, Christopher D., Winkler, Anderson M., Zwiers, Marcel P., Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H., Hartberg, Cecilie B., Haukvik, Unn K., Heister, Angelien J. G. A. M., Hoehn, David, Kasperaviciute, Dalia, Liewald, David C. M., Lopez, Lorna M., Makkinje, Remco R. R., Matarin, Mar, Naber, Marlies A. M., McKay, D. Reese, Needham, Margaret, Nugent, Allison C., Puetz, Benno, Royle, Natalie A., Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S. L., van Hulzen, Kimm J. E., Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A., Bastin, Mark E., Brodaty, Henry, Bulayeva, Kazima B., Carless, Melanie A., Cichon, Sven, Corvin, Aiden, Curran, Joanne E., Czisch, Michael, de Zubicaray, Greig I., Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Fedko, Iryna O., Ferrucci, Luigi, Foroud, Tatiana M., Fox, Peter T., Fukunaga, Masaki, Gibbs, J. Raphael, Goering, Harald H. H., Green, Robert C., Guelfi, Sebastian, Hansell, Narelle K., Hartman, Catharina A., Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G., Heslenfeld, Dirk J., Hoekstra, Pieter J., Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W., Jr., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Liu, Xinmin, Longo, Dan L., McMahon, Katie L., Meisenzah, Eva, Melle, Ingrid, Mahnke, Sebastian, Montgomery, Grant W., Mostert, Jeanette C., Muehleisen, Thomas W., Nalls, Michael A., Nichols, Thomas E., Nilsson, Lars G., Noethen, Markus M., Ohi, Kazutaka, Olvera, Rene L., Perez-Iglesias, Rocio, Pike, G. Bruce, Potkin, Steven G., Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D., Rujescu, Dan, Schnell, Knut, Schofield, Peter R., Smith, Colin, Steen, Vidar M., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Valdes Hernandez, Maria C., van't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J. A., van Tol, Marie-Jose, Veltman, Dick J., Wassink, Thomas H., Westman, Eric, Zielke, Ronald H., Zonderman, Alan B., Ashbrook, David G., Hager, Reinmar, Lu, Lu, McMahon, Francis J., Morris, Derek W., Williams, Robert W., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Cahn, Wiepke, Calhoun, Vince D., Cavalleri, Gianpiero L., Crespo-Facorro, Benedicto, Dale, Anders M., Davies, Gareth E., Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C., Espeseth, Thomas, Gollub, Randy L., Ho, Beng-Choon, Hoffman, Wolfgang, Hosten, Norbert, Kahn, Rene S., Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Mueller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W. J. H., Roffman, Joshua L., Sisodiya, Sanjay M., Smoller, Jordan W., van Bokhoven, Hans, van Haren, Neeltje E. M., Voelzke, Henry, Walter, Henrik, Weiner, Michael W., Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A., Blangero, John, Boomsma, Dorret I., Brouwer, Rachel M., Cannon, Dara M., Cookson, Mark R., de Geus, Eco J. C., Deary, Ian J., Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E., Francks, Clyde, Glahn, David C., Grabe, Hans J., Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Pol, Hilleke E. Hulshoff, Joensson, Erik G., Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S., Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M., Ophoff, Roel A., Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S., Saykin, Andrew J., Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M., Weale, Michael E., Weinberger, Daniel R., Adams, Hieab H. H., Launer, Lenore J., Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L., Becker, James T., Yanek, Lisa, van der Lee, Sven J., Ebling, Maritza, Fischl, Bruce, Longstreth, W. T., Jr., Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N., van Duijn, Cornelia M., Xue, Luting, Mazoyer, Bernard, Bis, Joshua C., Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M. Arfan, Martin, Nicholas G., Wright, Margaret J., Schumann, Gunter, Franke, Barbara, Thompson, Paul M., Jr., and Medland, Sarah E.

Abstract

The highly complex structure of the human brain is strongly shaped by genetic influences(1). Subcortical brain regions form circuits with cortical areas to coordinate movement(2), learning, memory(3) and motivation(4), and altered circuits can lead to abnormal behaviour and disease(5). To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume(5) and intracranial volume(6). These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 X 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

Published
2015
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18. The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data

Author

Thompson, Paul M., Stein, Jason L., Medland, Sarah E., Hibar, Derrek P., Vasquez, Alejandro Arias, Renteria, Miguel E., Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J., Martin, Nicholas G., Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C., Andreassen, Ole A., Apostolova, Liana G., Appel, Katja, Armstrong, Nicola J., Aribisala, Benjamin, Bastin, Mark E., Bauer, Michael, Bearden, Carrie E., Bergmann, Orjan, Binder, Elisabeth B., Blangero, John, Bockholt, Henry J., Boen, Erlend, Bois, Catherine, Boomsma, Dorret I., Booth, Tom, Bowman, Ian J., Bralten, Janita, Brouwer, Rachel M., Brunner, Han G., Brohawn, David G., Buckner, Randy L., Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R., Calhoun, Vince D., Cannon, Dara M., Cantor, Rita M., Carless, Melanie A., Caseras, Xavier, Cavalleri, Gianpiero L., Chakravarty, M. Mallar, Chang, Kiki D., Ching, Christopher R. K., Christoforou, Andrea, Cichon, Sven, Clark, Vincent P., Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Deary, Ian J., de Geus, Eco J. C., den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I., Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D., Ehrlich, Stefan, Ekman, Carl Johan, Elvsashagen, Torbjorn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernandez, Guillen, Fisher, Simon E., Foroud, Tatiana, Fox, Peter T., Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C., Godlewska, Beata, Goldstein, Rita Z., Gollub, Randy L., Grabe, Hans J., Grimm, Oliver, Gruber, Oliver, Guadalupe, Tulio, Gur, Raquel E., Gur, Ruben C., Goering, Harald H. H., Hagenaars, Saskia, Hajek, Tomas, Hall, Geoffrey B., Hall, Jeremy, Hardy, John, Hartman, Catharina A., Hass, Johanna, Hatton, Sean N., Haukvik, Unn K., Hegenscheid, Katrin, Heinz, Andreas, Hickie, Ian B., Ho, Beng-Choon, Hoehn, David, Hoekstra, Pieter J., Hollinshead, Marisa, Holmes, Avram J., Homuth, Georg, Hoogman, Martine, Hong, L. Elliot, Hosten, Norbert, Hottenga, Jouke-Jan, Pol, Hilleke E. Hulshoff, Hwang, Kristy S., Jack, Clifford R., Jr., Jenkinson, Mark, Johnston, Caroline, Joensson, Erik G., Kahn, Rene S., Kasperaviciute, Dalia, Kelly, Sinead, Kim, Sungeun, Kochunov, Peter, Koenders, Laura, Kraemer, Bernd, Kwok, John B. J., Lagopoulos, Jim, Laje, Gonzalo, Landen, Mikael, Landman, Bennett A., Lauriello, John, Lawrie, Stephen M., Lee, Phil H., Le Hellard, Stephanie, Lemaitre, Herve, Leonardo, Cassandra D., Li, Chiang-shan, Liberg, Benny, Liewald, David C., Liu, Xinmin, Lopez, Lorna M., Loth, Eva, Lourdusamy, Anbarasu, Luciano, Michelle, Macciardi, Fabio, Machielsen, Marise W. J., MacQueen, Glenda M., Malt, Ulrik F., Mandl, Rene, Manoach, Dara S., Martinot, Jean-Luc, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mattingsdal, Morten, Meyer-Lindenberg, Andreas, McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Milaneschi, Yuri, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Moses, Eric K., Mueller, Bryon A., Maniega, Susana Munoz, Muehleisen, Thomas W., Mueller-Myhsok, Bertram, Mwangi, Benson, Nauck, Matthias, Nho, Kwangsik, Nichols, Thomas E., Nilsson, Lars-Goeran, Nugent, Allison C., Nyberg, Lars, Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Papalampropoulou-Tsiridou, Melina, Papmeyer, Martina, Paus, Tomas, Pausova, Zdenka, Pearlson, Godfrey D., Penninx, Brenda W., Peterson, Charles P., Pfennig, Andrea, Phillips, Mary, Pike, G. Bruce, Poline, Jean-Baptiste, Potkin, Steven G., Puetz, Benno, Ramasamy, Adaikalavan, Rasmussen, Jerod, Rietschel, Marcella, Rijpkema, Mark, Risacher, Shannon L., Roffman, Joshua L., Roiz-Santianez, Roberto, Romanczuk-Seiferth, Nina, Rose, Emma J., Royle, Natalie A., Rujescu, Dan, Ryten, Mina, Sachdev, Perminder S., Salami, Alireza, Satterthwaite, Theodore D., Savitz, Jonathan, Saykin, Andrew J., Scanlon, Cathy, Schmaal, Lianne, Schnack, Hugo G., Schork, Andrew J., Schulz, S. Charles, Schuer, Remmelt, Seidman, Larry, Shen, Li, Shoemaker, Jody M., Simmons, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soares, Jair C., Sponheim, Scott R., Sprooten, Emma, Starr, John M., Steen, Vidar M., Strakowski, Stephen, Strike, Lachlan, Sussmann, Jessika, Saemann, Philipp G., Teumer, Alexander, Toga, Arthur W., Tordesillas-Gutierrez, Diana, Trabzuni, Daniah, Trost, Sarah, Turner, Jessica, Van den Heuvel, Martijn, van der Wee, Nic J., van Eijk, Kristel, van Erp, Theo G. M., van Haren, Neeltje E. M., van 't Ent, Dennis, van Tol, Marie-Jose, Hernandez, Maria C. Valdes, Veltman, Dick J., Versace, Amelia, Voelzke, Henry, Walker, Robert, Walter, Henrik, Wang, Lei, Wardlaw, Joanna M., Weale, Michael E., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Whalley, Heather C., Whelan, Christopher D., White, Tonya, Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Zilles, David, Zwiers, Marcel P., Thalamuthu, Anbupalam, Schofield, Peter R., Freimer, Nelson B., Lawrence, Natalia S., Drevets, Wayne, Thompson, Paul M., Stein, Jason L., Medland, Sarah E., Hibar, Derrek P., Vasquez, Alejandro Arias, Renteria, Miguel E., Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J., Martin, Nicholas G., Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C., Andreassen, Ole A., Apostolova, Liana G., Appel, Katja, Armstrong, Nicola J., Aribisala, Benjamin, Bastin, Mark E., Bauer, Michael, Bearden, Carrie E., Bergmann, Orjan, Binder, Elisabeth B., Blangero, John, Bockholt, Henry J., Boen, Erlend, Bois, Catherine, Boomsma, Dorret I., Booth, Tom, Bowman, Ian J., Bralten, Janita, Brouwer, Rachel M., Brunner, Han G., Brohawn, David G., Buckner, Randy L., Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R., Calhoun, Vince D., Cannon, Dara M., Cantor, Rita M., Carless, Melanie A., Caseras, Xavier, Cavalleri, Gianpiero L., Chakravarty, M. Mallar, Chang, Kiki D., Ching, Christopher R. K., Christoforou, Andrea, Cichon, Sven, Clark, Vincent P., Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Deary, Ian J., de Geus, Eco J. C., den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I., Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D., Ehrlich, Stefan, Ekman, Carl Johan, Elvsashagen, Torbjorn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernandez, Guillen, Fisher, Simon E., Foroud, Tatiana, Fox, Peter T., Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C., Godlewska, Beata, Goldstein, Rita Z., Gollub, Randy L., Grabe, Hans J., Grimm, Oliver, Gruber, Oliver, Guadalupe, Tulio, Gur, Raquel E., Gur, Ruben C., Goering, Harald H. 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Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

Published
2014
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