المؤلفون: 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, Nhat Trung Doan, 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., 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

المصدر: Hibar , D P , Adams , H H H , Jahanshad , N , Chauhan , G , Stein , J L , Hofer , E , Renteria , M E , Bis , J C , Arias-Vasquez , A , Ikram , M K , Desrivieres , S , Vernooij , M W , Abramovic , L , Alhusaini , S , Amin , N , Andersson , M , Arfanakis , K , Aribisala , B S , Armstrong , N J , Athanasiu , L , Axelsson , T , Beecham , A H , ....

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, TEMPORAL-LOBE EPILEPSY, SUSCEPTIBILITY LOCI, ALZHEIMERS-DISEASE, BIPOLAR DISORDER, COMMON VARIANTS, BRAIN-REGIONS, MEMORY, SUBFIELDS, METAANALYSIS

الوصف: 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.

الإتاحة: https://doi.org/10.1038/ncomms13624Test
https://cris.maastrichtuniversity.nl/en/publications/93158a3e-bf29-4983-801e-a37e16afe8cbTest

المؤلفون: 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, Smith, Albert, Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom, 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., Nhat Trung Doan, 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, 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, Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig, 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., 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., 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

المصدر: Satizabal , C L , Adams , H H H , Hibar , D P , White , C C , Knol , M J , Stein , J L , Scholz , M , Sargurupremraj , M , Jahanshad , N , Roshchupkin , G , Smith , A , Bis , J C , Jian , X , Luciano , M , Hofer , E , Teumer , A , van der Lee , S J , Yang , J , Yanek , L R , Lee , T , Li , S , Hu , Y ....

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, BASAL GANGLIA, ALKALINE-PHOSPHATASE, ALZHEIMERS-DISEASE, PLASMA-PROTEIN, RISK LOCI, DROSOPHILA, METAANALYSIS, EXPRESSION

الوصف: 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.

الإتاحة: https://doi.org/10.1038/s41588-019-0511-yTest
https://cris.maastrichtuniversity.nl/en/publications/2ae62312-080d-4996-a66a-635f562b7441Test

المؤلفون: 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.

المصدر: Adams , H H H , Hibar , D P , Chouraki , V , Stein , J L , Nyquist , P A , Renteria , M E , Trompet , S , Arias-Vasquez , A , Seshadri , S , Desrivieres , S , Beecham , A H , Jahanshad , N , Wittfeld , K , Van der Lee , S J , Abramovic , L , Alhusaini , S , Amin , N , Andersson , M , Arfanakis , K , Aribisala , B S , Armstrong , N J , Athanasiu , L ....

الوصف: 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.

الإتاحة: https://doi.org/10.1038/nn.4398Test
https://cris.maastrichtuniversity.nl/en/publications/d46ebcce-905b-452f-96c8-44f91f47afa9Test

المؤلفون: 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, Jönsson, 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.

المصدر: Hibar , D P , Stein , J L , Renteria , M E , Arias-Vasquez , A , Desrivieres , S , Jahanshad , N , Toro , R , Wittfeld , K , Abramovic , L , Andersson , M , Aribisala , B S , Armstrong , N J , Bernard , M , Bohlken , M M , Boks , M P , Bralten , J , Brown , A A , Chakravarty , M M , Chen , Q , Ching , C R K , Cuellar-Partida , G , den Braber , A ....

الوصف: 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.

الإتاحة: https://doi.org/10.1038/nature14101Test
https://cris.maastrichtuniversity.nl/en/publications/02e6c929-5e6a-4be7-bf2e-808146433afbTest