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Author: Manuel Mattheisen (112)


Dec
2017

Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases.
We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls).

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Mar
2018

Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci.

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Jan
2018

The serotonin transporter-linked polymorphic region 5-HTTLPR is a key genetic regulator of 5-HTT expression in the human brain where the short allele S has been implicated in emotion dysregulation. However, the neural mechanism underlying the association between this variant and emotion processing is still unclear. Earlier studies suggested an effect of 5-HTTLPR on amygdala activation during emotional face processing.

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Dec
1969

The aim of this study was to identify any potential genetic overlap between attention deficit hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). We hypothesized that since these disorders share a sub-phenotype, they may share common risk alleles. In this manuscript, we report the overlap found between these two disorders.

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Dec
1969

Open chromatin provides access to DNA-binding proteins for the correct spatiotemporal regulation of gene expression. Mapping chromatin accessibility has been widely used to identify the location of cis regulatory elements (CREs) including promoters and enhancers. CREs show tissue- and cell-type specificity and disease-associated variants are often enriched for CREs in the tissues and cells that pertain to a given disease.

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Dec
1969

Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown.

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Jan
2017

Novel genetic loci associated with hippocampal volume.

Nat Commun 2017 Jan 18;8:13624. Epub 2017 Jan 18.
Derrek P Hibar, Hieab H H Adams, Neda Jahanshad, Ganesh Chauhan, Jason L Stein, Edith Hofer, Miguel E Renteria, Joshua C Bis, Alejandro Arias-Vasquez, M Kamran Ikram, Sylvane Desrivières, Meike W Vernooij, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Ashley H Beecham, Alexa Beiser, Manon Bernard, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Vincent Chouraki, Gabriel Cuellar-Partida, Fabrice Crivello, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Boris A Gutman, Johanna Hass, Unn K Haukvik, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Kjetil N Jørgensen, Nazanin Karbalai, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre F Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, David R McKay, Yuri Milaneschi, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Paul Nyquist, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Lukas Pirpamer, Benno Pütz, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Stefan Ropele, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Arvin Saremi, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Stella Trompet, Dhananjay Vaidya, Jeroen Van der Grond, Sven J Van der Lee, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Katharina Wittfeld, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Anton J M De Craen, Eco J C De Geus, Philip L De Jager, Greig I De Zubicaray, Ian J Deary, Stéphanie Debette, Charles DeCarli, Norman Delanty, Chantal Depondt, Anita DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Christian Enzinger, Susanne Erk, Thomas Espeseth, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Myriam Fornage, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Asta K Håberg, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Matthew Huentelman, Hilleke E Hulshoff Pol, Masashi Ikeda, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Helena Schmidt, Peter R Schofield, Sigurdur Sigursson, Andrew Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Magda Tsolaki, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad van der Lugt, Nic J A van der Wee, Neeltje E M Van Haren, Dennis van 't Ent, Marie-Jose Van Tol, Badri N Vardarajan, Bruno Vellas, Dick J Veltman, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, Ronald H Zielke, Alan B Zonderman, Nicholas G Martin, Cornelia M Van Duijn, Margaret J Wright, W T Longstreth, Gunter Schumann, Hans J Grabe, Barbara Franke, Lenore J Launer, Sarah E Medland, Sudha Seshadri, Paul M Thompson, M Arfan Ikram
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.

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Jun
2017

There have been a number of candidate gene association studies of cancer cachexia-related traits, but no genome-wide association study (GWAS) has been published to date. Cachexia presents in patients with a number of complex traits, including both cancer and COPD. The objective of the current investigation was to search for a shared genetic aetiology for change in body mass index (ΔBMI) among cancer and COPD by using GWAS data in the Framingham Heart Study.

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Jan
2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Nat Genet 2017 Jan 21;49(1):27-35. Epub 2016 Nov 21.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto, Madhusudan Gujral, William M Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V Fuentes Fajarado, Michelle S Maile, Stephan Ripke, Ingrid Agartz, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu A Bacanu, Richard A Belliveau, Sarah E Bergen, Marcelo Bertalan, Elizabeth Bevilacqua, Tim B Bigdeli, Donald W Black, Richard Bruggeman, Nancy G Buccola, Randy L Buckner, Brendan Bulik-Sullivan, William Byerley, Wiepke Cahn, Guiqing Cai, Murray J Cairns, Dominique Campion, Rita M Cantor, Vaughan J Carr, Noa Carrera, Stanley V Catts, Kimberley D Chambert, Wei Cheng, C Robert Cloninger, David Cohen, Paul Cormican, Nick Craddock, Benedicto Crespo-Facorro, James J Crowley, David Curtis, Michael Davidson, Kenneth L Davis, Franziska Degenhardt, Jurgen Del Favero, Lynn E DeLisi, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H Fanous, Kai-How Farh, Martilias S Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B Freimer, Joseph I Friedman, Andreas J Forstner, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S Gershon, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I Goldstein, Jacob Gratten, Lieuwe de Haan, Marian L Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M Hartmann, Frans A Henskens, Stefan Herms, Joel N Hirschhorn, Per Hoffmann, Andrea Hofman, Hailiang Huang, Masashi Ikeda, Inge Joa, Anna K Kähler, René S Kahn, Luba Kalaydjieva, Juha Karjalainen, David Kavanagh, Matthew C Keller, Brian J Kelly, James L Kennedy, Yunjung Kim, James A Knowles, Bettina Konte, Claudine Laurent, Phil Lee, S Hong Lee, Sophie E Legge, Bernard Lerer, Deborah L Levy, Kung-Yee Liang, Jeffrey Lieberman, Jouko Lönnqvist, Carmel M Loughland, Patrik K E Magnusson, Brion S Maher, Wolfgang Maier, Jacques Mallet, Manuel Mattheisen, Morten Mattingsdal, Robert W McCarley, Colm McDonald, Andrew M McIntosh, Sandra Meier, Carin J Meijer, Ingrid Melle, Raquelle I Mesholam-Gately, Andres Metspalu, Patricia T Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W Morris, Bertram Müller-Myhsok, Kieran C Murphy, Robin M Murray, Inez Myin-Germeys, Igor Nenadic, Deborah A Nertney, Gerald Nestadt, Kristin K Nicodemus, Laura Nisenbaum, Annelie Nordin, Eadbhard O'Callaghan, Colm O'Dushlaine, Sang-Yun Oh, Ann Olincy, Line Olsen, F Anthony O'Neill, Jim Van Os, Christos Pantelis, George N Papadimitriou, Elena Parkhomenko, Michele T Pato, Tiina Paunio, , Diana O Perkins, Tune H Pers, Olli Pietiläinen, Jonathan Pimm, Andrew J Pocklington, John Powell, Alkes Price, Ann E Pulver, Shaun M Purcell, Digby Quested, Henrik B Rasmussen, Abraham Reichenberg, Mark A Reimers, Alexander L Richards, Joshua L Roffman, Panos Roussos, Douglas M Ruderfer, Veikko Salomaa, Alan R Sanders, Adam Savitz, Ulrich Schall, Thomas G Schulze, Sibylle G Schwab, Edward M Scolnick, Rodney J Scott, Larry J Seidman, Jianxin Shi, Jeremy M Silverman, Jordan W Smoller, Erik Söderman, Chris C A Spencer, Eli A Stahl, Eric Strengman, Jana Strohmaier, T Scott Stroup, Jaana Suvisaari, Dragan M Svrakic, Jin P Szatkiewicz, Srinivas Thirumalai, Paul A Tooney, Juha Veijola, Peter M Visscher, John Waddington, Dermot Walsh, Bradley T Webb, Mark Weiser, Dieter B Wildenauer, Nigel M Williams, Stephanie Williams, Stephanie H Witt, Aaron R Wolen, Brandon K Wormley, Naomi R Wray, Jing Qin Wu, Clement C Zai, Rolf Adolfsson, Ole A Andreassen, Douglas H R Blackwood, Elvira Bramon, Joseph D Buxbaum, Sven Cichon, David A Collier, Aiden Corvin, Mark J Daly, Ariel Darvasi, Enrico Domenici, Tõnu Esko, Pablo V Gejman, Michael Gill, Hugh Gurling, Christina M Hultman, Nakao Iwata, Assen V Jablensky, Erik G Jönsson, Kenneth S Kendler, George Kirov, Jo Knight, Douglas F Levinson, Qingqin S Li, Steven A McCarroll, Andrew McQuillin, Jennifer L Moran, Bryan J Mowry, Markus M Nöthen, Roel A Ophoff, Michael J Owen, Aarno Palotie, Carlos N Pato, Tracey L Petryshen, Danielle Posthuma, Marcella Rietschel, Brien P Riley, Dan Rujescu, Pamela Sklar, David St Clair, James T R Walters, Thomas Werge, Patrick F Sullivan, Michael C O'Donovan, Stephen W Scherer, Benjamin M Neale, Jonathan Sebat,
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls.

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Dec
1969

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

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.
Hieab H H Adams, Derrek P Hibar, Vincent Chouraki, Jason L Stein, Paul A Nyquist, Miguel E Rentería, Stella Trompet, Alejandro Arias-Vasquez, Sudha Seshadri, Sylvane Desrivières, Ashley H Beecham, Neda Jahanshad, Katharina Wittfeld, Sven J Van der Lee, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Alexa Beiser, Manon Bernard, Joshua C Bis, Laura M E Blanken, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Ganesh Chauhan, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Irina Filippi, Tian Ge, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Corina U Greven, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Johanna Hass, Unn K Haukvik, Saima Hilal, Edith Hofer, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Jiemin Liao, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, Bernard Mazoyer, David R McKay, Rebekah McWhirter, Yuri Milaneschi, Nazanin Mirza-Schreiber, Ryan L Muetzel, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Irene Pappa, Lukas Pirpamer, Sara Pudas, Benno Pütz, Kumar B Rajan, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Russell Thomson, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Dhananjay Vaidya, Jeroen Van der Grond, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Bing Xu, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Neelum T Aggarwal, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Christopher Chen, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Eco J C De Geus, Philip L De Jager, Greig I de Zubicaray, Norman Delanty, Chantal Depondt, Anita L DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Thomas Espeseth, Denis A Evans, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Hans J Grabe, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Hilleke E Hulshoff Pol, Masashi Ikeda, M Kamran Ikram, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, W T Longstreth, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Katie L McMahon, Francis J McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Peter R Schofield, Sigurdur Sigurdsson, Andy Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Velandai Srikanth, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Henning Tiemeier, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad Van der Lugt, Nic J A Van der Wee, Cornelia M Van Duijn, Neeltje E M Van Haren, Dennis Van T Ent, Marie-Jose Van Tol, Badri N Vardarajan, Dick J Veltman, Meike W Vernooij, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, H Ronald Zielke, Alan B Zonderman, Ian J Deary, Charles DeCarli, Helena Schmidt, Nicholas G Martin, Anton J M De Craen, Margaret J Wright, Lenore J Launer, Gunter Schumann, Myriam Fornage, Barbara Franke, Stéphanie Debette, Sarah E Medland, M Arfan Ikram, Paul M Thompson
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.

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Oct
2016

It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia. One way to estimate the effects of inbreeding is to examine the association between disease diagnosis and genome-wide autozygosity estimated using runs of homozygosity (ROH) in genome-wide single nucleotide polymorphism arrays. Using data for schizophrenia from the Psychiatric Genomics Consortium (n = 21,868), Keller et al.

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Dec
2016

Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was achieved through the investigation of large genome-wide association study datasets.

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Dec
1969

Despite the identification of numerous schizophrenia-associated genetic variants, few have been examined functionally to identify and characterize the causal variants. To mitigate this, we aimed at identifying functional variants affecting miRNA function. Using data from a large-scale genome-wide association study of schizophrenia, we looked for schizophrenia risk variants altering either miRNA binding sites, miRNA genes, promoters for miRNA genes, or variants that were expression quantitative trait loci (eQTLs) for miRNA genes.

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Sep
2016

Anxiety disorders and depression are the most common mental disorders worldwide and have a striking impact on global disease burden. Although depression has consistently been found to increase mortality; the role of anxiety disorders in predicting mortality risk is unclear.
To assess mortality risk in people with anxiety disorders.

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Oct
2016

Several studies have suggested an important role of infections in the etiology of schizophrenia; however, shared genetic liability toward infections and schizophrenia could influence the association. We therefore investigated the possible effect of polygenic risk scores (PRSs) for schizophrenia on the association between infections and the risk of schizophrenia.
We conducted a nested case-control study on a Danish population-based sample born after 1981 comprising of 1692 cases diagnosed with schizophrenia between 1994 and 2008 and 1724 matched controls.

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Jun
2016

Although deficits in emotional processing are prominent in schizophrenia, it has been difficult to identify neural mechanisms related to the genetic risk for this highly heritable illness. Prior studies have not found consistent regional activation or connectivity alterations in first-degree relatives compared with healthy controls, suggesting that a more comprehensive search for connectomic biomarkers is warranted.
To identify a potential systems-level intermediate phenotype linked to emotion processing in schizophrenia and to examine the psychological association, task specificity, test-retest reliability, and clinical validity of the identified phenotype.

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Dec
1969

The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 and its role in mental disorders, we characterized the protein and chromatin interactions of the BRD1 isoforms, BRD1-S and BRD1-L.
Stable human cell lines expressing epitope tagged BRD1-S and BRD1-L were generated and used as discovery systems for identifying protein and chromatin interactions.

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Dec
1969

Converging evidence indicates that microRNAs (miRNAs) may contribute to disease risk for schizophrenia (SZ). We show that microRNA-9 (miR-9) is abundantly expressed in control neural progenitor cells (NPCs) but also significantly downregulated in a subset of SZ NPCs. We observed a strong correlation between miR-9 expression and miR-9 regulatory activity in NPCs as well as between miR-9 levels/activity, neural migration, and diagnosis.

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Dec
1969

Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder. Non-genetic factors and their interaction with genes have attracted increasing attention. Epigenetics is regarded an important interface between environmental signals and activation/repression of genomic responses.

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Apr
2016

The recent implication of 108 genomic loci in schizophrenia marked a great advancement in our understanding of the disease. Against the background of its polygenic nature there is a necessity to identify how schizophrenia risk genes interplay. As regulators of gene expression, microRNAs (miRNAs) have repeatedly been implicated in schizophrenia etiology.

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Mar
2016

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap.

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Mar
2016

Several mental disorders have consistently been found to be associated with decreased life expectancy, but little is known about whether this is also the case for obsessive-compulsive disorder (OCD).
To determine whether persons who receive a diagnosis of OCD are at increased risk of death.
Using data from Danish registers, we conducted a nationwide prospective cohort study with 30 million person-years of follow-up.

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Mar
2016

Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study.

Lancet 2016 Mar 22;387(10023):1085-1093. Epub 2016 Jan 22.
Liping Hou, Urs Heilbronner, Franziska Degenhardt, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Raffaella Ardau, Bárbara Arias, Lena Backlund, Claudio E M Banzato, Antoni Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M Biernacka, Armin Birner, Clara Brichant-Petitjean, Elise T Bui, Pablo Cervantes, Guo-Bo Chen, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R Clark, Francesc Colom, David A Cousins, Cristiana Cruceanu, Piotr M Czerski, Clarissa R Dantas, Alexandre Dayer, Bruno Étain, Peter Falkai, Andreas J Forstner, Louise Frisén, Janice M Fullerton, Sébastien Gard, Julie S Garnham, Fernando S Goes, Paul Grof, Oliver Gruber, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Per Hoffmann, Andrea Hofmann, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Sarah Kittel-Schneider, Sebastian Kliwicki, Barbara König, Ichiro Kusumi, Nina Lackner, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Carlos A López Jaramillo, Glenda MacQueen, Mirko Manchia, Lina Martinsson, Manuel Mattheisen, Michael J McCarthy, Susan L McElroy, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Markus M Nöthen, Urban Ösby, Norio Ozaki, Roy H Perlis, Andrea Pfennig, Daniela Reich-Erkelenz, Guy A Rouleau, Peter R Schofield, K Oliver Schubert, Barbara W Schweizer, Florian Seemüller, Giovanni Severino, Tatyana Shekhtman, Paul D Shilling, Kazutaka Shimoda, Christian Simhandl, Claire M Slaney, Jordan W Smoller, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Sarah K Tighe, Alfonso Tortorella, Gustavo Turecki, Julia Volkert, Stephanie Witt, Adam Wright, L Trevor Young, Peter P Zandi, James B Potash, J Raymond DePaulo, Michael Bauer, Eva Z Reininghaus, Tomas Novák, Jean-Michel Aubry, Mario Maj, Bernhard T Baune, Philip B Mitchell, Eduard Vieta, Mark A Frye, Janusz K Rybakowski, Po-Hsiu Kuo, Tadafumi Kato, Maria Grigoroiu-Serbanescu, Andreas Reif, Maria Del Zompo, Frank Bellivier, Martin Schalling, Naomi R Wray, John R Kelsoe, Martin Alda, Marcella Rietschel, Francis J McMahon, Thomas G Schulze
Lithium is a first-line treatment in bipolar disorder, but individual response is variable. Previous studies have suggested that lithium response is a heritable trait. However, no genetic markers of treatment response have been reproducibly identified.

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Dec
2015

Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC).

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Dec
1969

Despite substantial similarities and overlaps in the pathophysiology of obsessive-compulsive disorders (OCD) and autism spectrum disorders, little is known about the clinical and etiologic cohesion of these two disorders. We therefore aimed to determine the patterns of comorbidity, longitudinal risks, and shared familial risks between these disorders.
In a prospective study design we explored the effect of a prior diagnosis of OCD in patients and parents on the susceptibility to autism spectrum disorders and vice versa.

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Mar
2016

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts.

Behav Genet 2016 Mar 21;46(2):151-69. Epub 2015 Sep 21.
Tae-Hwi Schwantes-An, Juan Zhang, Li-Shiun Chen, Sarah M Hartz, Robert C Culverhouse, Xiangning Chen, Hilary Coon, Josef Frank, Helen M Kamens, Bettina Konte, Leena Kovanen, Antti Latvala, Lisa N Legrand, Brion S Maher, Whitney E Melroy, Elliot C Nelson, Mark W Reid, Jason D Robinson, Pei-Hong Shen, Bao-Zhu Yang, Judy A Andrews, Paul Aveyard, Olga Beltcheva, Sandra A Brown, Dale S Cannon, Sven Cichon, Robin P Corley, Norbert Dahmen, Louisa Degenhardt, Tatiana Foroud, Wolfgang Gaebel, Ina Giegling, Stephen J Glatt, Richard A Grucza, Jill Hardin, Annette M Hartmann, Andrew C Heath, Stefan Herms, Colin A Hodgkinson, Per Hoffmann, Hyman Hops, David Huizinga, Marcus Ising, Eric O Johnson, Elaine Johnstone, Radka P Kaneva, Kenneth S Kendler, Falk Kiefer, Henry R Kranzler, Ken S Krauter, Orna Levran, Susanne Lucae, Michael T Lynskey, Wolfgang Maier, Karl Mann, Nicholas G Martin, Manuel Mattheisen, Grant W Montgomery, Bertram Müller-Myhsok, Michael F Murphy, Michael C Neale, Momchil A Nikolov, Denise Nishita, Markus M Nöthen, John Nurnberger, Timo Partonen, Michele L Pergadia, Maureen Reynolds, Monika Ridinger, Richard J Rose, Noora Rouvinen-Lagerström, Norbert Scherbaum, Christine Schmäl, Michael Soyka, Michael C Stallings, Michael Steffens, Jens Treutlein, Ming Tsuang, Tamara L Wall, Norbert Wodarz, Vadim Yuferov, Peter Zill, Andrew W Bergen, Jingchun Chen, Paul M Cinciripini, Howard J Edenberg, Marissa A Ehringer, Robert E Ferrell, Joel Gelernter, David Goldman, John K Hewitt, Christian J Hopfer, William G Iacono, Jaakko Kaprio, Mary Jeanne Kreek, Ivo M Kremensky, Pamela A F Madden, Matt McGue, Marcus R Munafò, Robert A Philibert, Marcella Rietschel, Alec Roy, Dan Rujescu, Sirkku T Saarikoski, Gary E Swan, Alexandre A Todorov, Michael M Vanyukov, Robert B Weiss, Laura J Bierut, Nancy L Saccone
The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) in OPRM1 has been extensively studied, yet its role in addiction has remained unclear, with conflicting association findings. To resolve the question of what effect, if any, rs1799971 has on substance dependence risk, we conducted collaborative meta-analyses of 25 datasets with over 28,000 European-ancestry subjects.

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Jun
2015

Depression and anxiety disorders are highly comorbid conditions and a worldwide disease burden; however, large-scale studies delineating their association are scarce. In this retrospective study, we aimed to assess the effect of severe anxiety disorders on the risk and course of depression.
We did a population-based cohort study with prospectively gathered data in Denmark using data from three Danish population registers: The Danish Civil Registration System, the Danish Psychiatric Central Register, and the Danish National Hospital Registry.

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Nov
2015

Anxiety disorders and anorexia nervosa are frequently acknowledged to be highly comorbid conditions, but still, little is known about the clinical and aetiological cohesion of specific anxiety diagnoses and anorexia nervosa. Using the comprehensive Danish population registers, we aimed to determine the risk of anorexia nervosa in patients with register-detected severe anxiety disorders. We also explored whether parental psychopathology was associated with offspring's anorexia nervosa.

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Feb
2016

Bipolar disorder is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for bipolar disorder in the expression quantitative trait loci (eQTL) in the brain.
We sought to assess the impact of eQTL variants on bipolar disorder risk by combining data from both bipolar disorder genome-wide association studies (GWAS) and brain eQTL.

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Oct
2015

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.

Int J Epidemiol 2015 Oct;44(5):1706-21
S Hong Lee, Enda M Byrne, Christina M Hultman, Anna Kähler, Anna A E Vinkhuyzen, Stephan Ripke, Ole A Andreassen, Thomas Frisell, Alexander Gusev, Xinli Hu, Robert Karlsson, Vasilis X Mantzioris, John J McGrath, Divya Mehta, Eli A Stahl, Qiongyi Zhao, Kenneth S Kendler, Patrick F Sullivan, Alkes L Price, Michael O'Donovan, Yukinori Okada, Bryan J Mowry, Soumya Raychaudhuri, Naomi R Wray, , , William Byerley, Wiepke Cahn, Rita M Cantor, Sven Cichon, Paul Cormican, David Curtis, Srdjan Djurovic, Valentina Escott-Price, Pablo V Gejman, Lyudmila Georgieva, Ina Giegling, Thomas F Hansen, Andrés Ingason, Yunjung Kim, Bettina Konte, Phil H Lee, Andrew McIntosh, Andrew McQuillin, Derek W Morris, Markus M Nöthen, Colm O'Dushlaine, Ann Olincy, Line Olsen, Carlos N Pato, Michele T Pato, Benjamin S Pickard, Danielle Posthuma, Henrik B Rasmussen, Marcella Rietschel, Dan Rujescu, Thomas G Schulze, Jeremy M Silverman, Srinivasa Thirumalai, Thomas Werge, , Ingrid Agartz, Farooq Amin, Maria H Azevedo, Nicholas Bass, Donald W Black, Douglas H R Blackwood, Richard Bruggeman, Nancy G Buccola, Khalid Choudhury, Robert C Cloninger, Aiden Corvin, Nicholas Craddock, Mark J Daly, Susmita Datta, Gary J Donohoe, Jubao Duan, Frank Dudbridge, Ayman Fanous, Robert Freedman, Nelson B Freimer, Marion Friedl, Michael Gill, Hugh Gurling, Lieuwe De Haan, Marian L Hamshere, Annette M Hartmann, Peter A Holmans, René S Kahn, Matthew C Keller, Elaine Kenny, George K Kirov, Lydia Krabbendam, Robert Krasucki, Jacob Lawrence, Todd Lencz, Douglas F Levinson, Jeffrey A Lieberman, Dan-Yu Lin, Don H Linszen, Patrik K E Magnusson, Wolfgang Maier, Anil K Malhotra, Manuel Mattheisen, Morten Mattingsdal, Steven A McCarroll, Helena Medeiros, Ingrid Melle, Vihra Milanova, Inez Myin-Germeys, Benjamin M Neale, Roel A Ophoff, Michael J Owen, Jonathan Pimm, Shaun M Purcell, Vinay Puri, Digby J Quested, Lizzy Rossin, Douglas Ruderfer, Alan R Sanders, Jianxin Shi, Pamela Sklar, David St Clair, T Scott Stroup, Jim Van Os, Peter M Visscher, Durk Wiersma, Stanley Zammit, , S Louis Bridges, Hyon K Choi, Marieke J H Coenen, Niek de Vries, Philippe Dieud, Jeffrey D Greenberg, Tom W J Huizinga, Leonid Padyukov, Katherine A Siminovitch, Paul P Tak, Jane Worthington, , Philip L De Jager, Joshua C Denny, Peter K Gregersen, Lars Klareskog, Xavier Mariette, Robert M Plenge, Mart van Laar, Piet van Riel
A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders.

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Dec
1969

Ectodermal dysplasias (EDs) are a large heterogeneous group of inherited disorders exhibiting abnormalities in ectodermally derived appendages such as hair, nails, teeth and sweat glands. EDs associated with reticulated pigmentation phenotype are rare entities for which the genetic basis and pathophysiology are not well characterized. The present study describes a five generation consanguineous Pakistani family segregating an autosomal recessive form of a novel type of ectodermal dysplasia.

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Jun
2015

Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well.

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Jul
2015

Schizophrenia has a complex etiology influenced both by genetic and nongenetic factors but disentangling these factors is difficult.
To estimate (1) how strongly the risk for schizophrenia relates to the mutual effect of the polygenic risk score, parental socioeconomic status, and family history of psychiatric disorders; (2) the fraction of cases that could be prevented if no one was exposed to these factors; (3) whether family background interacts with an individual's genetic liability so that specific subgroups are particularly risk prone; and (4) to what extent a proband's genetic makeup mediates the risk associated with familial background.
We conducted a nested case-control study based on Danish population-based registers.

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Mar
2015

The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients and 1,177 controls of European origin.

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Nov
2015

Genome-wide association studies have identified multiple risk variants and loci that show robust association with schizophrenia. Nevertheless, it remains unclear how these variants confer risk to schizophrenia. In addition, the driving force that maintains the schizophrenia risk variants in human gene pool is poorly understood.

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Jan
2015

Gene-regulatory network analysis is a powerful approach to elucidate the molecular processes and pathways underlying complex disease. Here we employ systems genetics approaches to characterize the genetic regulation of pathophysiological pathways in human temporal lobe epilepsy (TLE). Using surgically acquired hippocampi from 129 TLE patients, we identify a gene-regulatory network genetically associated with epilepsy that contains a specialized, highly expressed transcriptional module encoding proconvulsive cytokines and Toll-like receptor signalling genes.

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Apr
2015

Common genetic variants influence human subcortical brain structures.

Nature 2015 Apr 21;520(7546):224-9. Epub 2015 Jan 21.
Derrek P Hibar, Jason L Stein, Miguel E Renteria, Alejandro Arias-Vasquez, Sylvane Desrivières, Neda Jahanshad, Roberto Toro, Katharina Wittfeld, Lucija Abramovic, Micael Andersson, Benjamin S Aribisala, Nicola J Armstrong, Manon Bernard, Marc M Bohlken, Marco P Boks, Janita Bralten, Andrew A Brown, M Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Gabriel Cuellar-Partida, Anouk den Braber, Sudheer Giddaluru, Aaron L Goldman, Oliver Grimm, Tulio Guadalupe, Johanna Hass, Girma Woldehawariat, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, Loes M Olde Loohuis, Michelle Luciano, Christine Macare, Karen A Mather, Manuel Mattheisen, Yuri Milaneschi, Kwangsik Nho, Martina Papmeyer, Adaikalavan Ramasamy, Shannon L Risacher, Roberto Roiz-Santiañez, Emma J Rose, Alireza Salami, Philipp G Sämann, Lianne Schmaal, Andrew J Schork, Jean Shin, Lachlan T Strike, Alexander Teumer, Marjolein M J van Donkelaar, Kristel R van Eijk, Raymond K Walters, Lars T Westlye, Christopher D Whelan, Anderson M Winkler, Marcel P Zwiers, Saud Alhusaini, Lavinia Athanasiu, Stefan Ehrlich, Marina M H Hakobjan, Cecilie B Hartberg, Unn K Haukvik, Angelien J G A M Heister, David Hoehn, Dalia Kasperaviciute, David C M Liewald, Lorna M Lopez, Remco R R Makkinje, Mar Matarin, Marlies A M Naber, D Reese McKay, Margaret Needham, Allison C Nugent, Benno Pütz, Natalie A Royle, Li Shen, Emma Sprooten, Daniah Trabzuni, Saskia S L van der Marel, Kimm J E van Hulzen, Esther Walton, Christiane Wolf, Laura Almasy, David Ames, Sampath Arepalli, Amelia A Assareh, Mark E Bastin, Henry Brodaty, Kazima B Bulayeva, Melanie A Carless, Sven Cichon, Aiden Corvin, Joanne E Curran, Michael Czisch, Greig I de Zubicaray, Allissa Dillman, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Iryna O Fedko, Luigi Ferrucci, Tatiana M Foroud, Peter T Fox, Masaki Fukunaga, J Raphael Gibbs, Harald H H Göring, Robert C Green, Sebastian Guelfi, Narelle K Hansell, Catharina A Hartman, Katrin Hegenscheid, Andreas Heinz, Dena G Hernandez, Dirk J Heslenfeld, Pieter J Hoekstra, Florian Holsboer, Georg Homuth, Jouke-Jan Hottenga, Masashi Ikeda, Clifford R Jack, Mark Jenkinson, Robert Johnson, Ryota Kanai, Maria Keil, Jack W Kent, Peter Kochunov, John B Kwok, Stephen M Lawrie, Xinmin Liu, Dan L Longo, Katie L McMahon, Eva Meisenzahl, Ingrid Melle, Sebastian Mohnke, Grant W Montgomery, Jeanette C Mostert, Thomas W Mühleisen, Michael A Nalls, Thomas E Nichols, Lars G Nilsson, Markus M Nöthen, Kazutaka Ohi, Rene L Olvera, Rocio Perez-Iglesias, G Bruce Pike, Steven G Potkin, Ivar Reinvang, Simone Reppermund, Marcella Rietschel, Nina Romanczuk-Seiferth, Glenn D Rosen, Dan Rujescu, Knut Schnell, Peter R Schofield, Colin Smith, Vidar M Steen, Jessika E Sussmann, Anbupalam Thalamuthu, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Jessica A Turner, Maria C Valdés Hernández, Dennis van 't Ent, Marcel van der Brug, Nic J A van der Wee, Marie-Jose van Tol, Dick J Veltman, Thomas H Wassink, Eric Westman, Ronald H Zielke, Alan B Zonderman, David G Ashbrook, Reinmar Hager, Lu Lu, Francis J McMahon, Derek W Morris, Robert W Williams, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Wiepke Cahn, Vince D Calhoun, Gianpiero L Cavalleri, Benedicto Crespo-Facorro, Anders M Dale, Gareth E Davies, Norman Delanty, Chantal Depondt, Srdjan Djurovic, Wayne C Drevets, Thomas Espeseth, Randy L Gollub, Beng-Choon Ho, Wolfgang Hoffmann, Norbert Hosten, René S Kahn, Stephanie Le Hellard, Andreas Meyer-Lindenberg, Bertram Müller-Myhsok, Matthias Nauck, Lars Nyberg, Massimo Pandolfo, Brenda W J H Penninx, Joshua L Roffman, Sanjay M Sisodiya, Jordan W Smoller, Hans van Bokhoven, Neeltje E M van Haren, Henry Völzke, Henrik Walter, Michael W Weiner, Wei Wen, Tonya White, Ingrid Agartz, Ole A Andreassen, John Blangero, Dorret I Boomsma, Rachel M Brouwer, Dara M Cannon, Mark R Cookson, Eco J C de Geus, Ian J Deary, Gary Donohoe, Guillén Fernández, Simon E Fisher, Clyde Francks, David C Glahn, Hans J Grabe, Oliver Gruber, John Hardy, Ryota Hashimoto, Hilleke E Hulshoff Pol, Erik G Jönsson, Iwona Kloszewska, Simon Lovestone, Venkata S Mattay, Patrizia Mecocci, Colm McDonald, Andrew M McIntosh, Roel A Ophoff, Tomas Paus, Zdenka Pausova, Mina Ryten, Perminder S Sachdev, Andrew J Saykin, Andy Simmons, Andrew Singleton, Hilkka Soininen, Joanna M Wardlaw, Michael E Weale, Daniel R Weinberger, Hieab H H Adams, Lenore J Launer, Stephan Seiler, Reinhold Schmidt, Ganesh Chauhan, Claudia L Satizabal, James T Becker, Lisa Yanek, Sven J van der Lee, Maritza Ebling, Bruce Fischl, W T Longstreth, Douglas Greve, Helena Schmidt, Paul Nyquist, Louis N Vinke, Cornelia M van Duijn, Luting Xue, Bernard Mazoyer, Joshua C Bis, Vilmundur Gudnason, Sudha Seshadri, M Arfan Ikram, , , , , , Nicholas G Martin, Margaret J Wright, Gunter Schumann, Barbara Franke, Paul M Thompson, Sarah E Medland
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. 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.

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Dec
1969

Numerous genetic and epigenetic events driving tumorigenesis have been characterized. However, knowledge is lacking on the particular events required for the metastatic spread of cancer cells. The engulfment and cell motility 3 (ELMO3) gene plays an important role for the migratory potential of cells, but have not previously been studied in primary samples from cancer patients.

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Nov
2014

Despite a remarkable co-occurrence of obsessive-compulsive disorder (OCD) and schizophrenia, little is known about the clinical and etiological relationship of these 2 disorders. Exploring the degree to which these disorders share etiological factors might provide useful implications for clinicians, researchers, and those with the disorders.
To assess whether patients with OCD experience an enhanced risk of developing schizophrenia and schizophrenia spectrum disorders and to determine whether a family history of OCD constitutes a risk factor for schizophrenia and schizophrenia spectrum disorders.

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Dec
1969

To use a systems biology approach to integrate genotype and protein-protein interaction (PPI) data to identify disease network modules associated with chronic obstructive pulmonary disease (COPD) and to perform traditional pathway analysis.
We utilized a standard gene-set association approach (FORGE) using gene-based association analysis and gene-set definitions from the molecular signatures database (MSigDB). As a discovery step, we analyzed GWAS results from 2 well-characterized COPD cohorts: COPDGene and GenKOLS.

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Dec
1969

Bipolar disorder is one of the most common and devastating psychiatric disorders whose mechanisms remain largely unknown. Despite a strong genetic contribution demonstrated by twin and adoption studies, a polygenic background influences this multifactorial and heterogeneous psychiatric disorder. To identify susceptibility genes on a severe and more familial sub-form of the disease, we conducted a genome-wide association study focused on 211 patients of French origin with an early age at onset and 1,719 controls, and then replicated our data on a German sample of 159 patients with early-onset bipolar disorder and 998 controls.

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Mar
2015

Breakpoints of chromosomal abnormalities facilitate identification of novel candidate genes for psychiatric disorders. Genome-wide significant evidence supports the linkage between chromosome 17q25.3 and bipolar disorder (BD).

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Jan
2015

Genetic factors have as large role as environmental factors in the etiology of alcohol dependence (AD). Although genome-wide association studies (GWAS) enable systematic searches for loci not hitherto implicated in the etiology of AD, many true findings may be missed owing to correction for multiple testing. The aim of the present study was to circumvent this limitation by searching for biological system-level differences, and then following up these findings in humans and animals.

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Aug
2014

Idiopathic achalasia is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. This ultimately leads to massive dilatation and an irreversibly impaired megaesophagus. We performed a genetic association study in 1,068 achalasia cases and 4,242 controls and fine-mapped a strong MHC association signal by imputing classical HLA haplotypes and amino acid polymorphisms.

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Jul
2014

Functional interactions between the dorsolateral prefrontal cortex and hippocampus during working memory have been studied extensively as an intermediate phenotype for schizophrenia. Coupling abnormalities have been found in patients, their unaffected siblings, and carriers of common genetic variants associated with schizophrenia, but the global genetic architecture of this imaging phenotype is unclear. To achieve genome-wide hypothesis-free identification of genes and pathways associated with prefrontal-hippocampal interactions, we combined gene set enrichment analysis with whole-genome genotyping and functional magnetic resonance imaging data from 269 healthy German volunteers.

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