Browsing by Author "Macciardi, Fabio"

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    The Genetic Architecture of the Human Cerebral Cortex
    (American Association for the Advancement of Science, 2020-03-20) Grasby, Katrina L.; Jahanshad, Neda; Painter, Jodie N.; Colodro-Conde, Lucía; Bralten, Janita; Hibar, Derrek P.; Lind, Penelope A.; Pizzagalli, Fabrizio; Ching, Christopher R.K.; McMahon, Mary Agnes B.; Shatokhina, Natalia; Zsembik, Leo C.P.; Thomopoulos, Sophia I.; Zhu, Alyssa H.; Strike, Lachlan T.; Agartz, Ingrid; Alhusaini, Saud; Almeida, Marcio A.A.; Alnæs, Dag; Amlien, Inge K.; Andersson, Micael; Ard, Tyler; Armstrong, Nicola J.; Ashley-Koch, Allison; Atkins, Joshua R.; Bernard, Manon; Brouwer, Rachel M.; Buimer, Elizabeth E.L.; Bülow, Robin; Bürger, Christian; Cannon, Dara M.; Chakravarty, Mallar; Chen, Qiang; Cheung, Joshua W.; Couvy-Duchesne, Baptiste; Dale, Anders M.; Dalvie, Shareefa; de Araujo, Tânia K.; de Zubicaray, Greig I.; de Zwarte, Sonja M.C.; den Braber, Anouk; Doan, Nhat Trung; Dohm, Katharina; Ehrlich, Stefan; Engelbrecht, Hannah-Ruth; Erk, Susanne; Fan, Chun Chieh; Fedko, Iryna O.; Foley, Sonya F.; Ford, Judith M.; Fukunaga, Masaki; Garrett, Melanie E.; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L.; Green, Melissa J.; Groenewold, Nynke A.; Grotegerd, Dominik; Gurholt, Tiril P.; Gutman, Boris A.; Hansell, Narelle K.; Harris, Mathew A.; Harrison, Marc B.; Haswell, Courtney C.; Hauser, Michael; Herms, Stefan; Heslenfeld, Dirk J.; Ho, New Fei; Hoehn, David; Hoffmann, Per; Holleran, Laurena; Hoogman, Martine; Hottenga, Jouke-Jan; Ikeda, Masashi; Janowitz, Deborah; Jansen, Iris E.; Jia, Tianye; Jockwitz, Christiane; Kanai, Ryota; Karama, Sherif; Kasperaviciute, Dalia; Kaufmann, Tobias; Kelly, Sinead; Kikuchi, Masataka; Klein, Marieke; Knapp, Michael; Knodt, Annchen R.; Krämer, Bernd; Lam, Max; Lancaster, Thomas M.; Lee, Phil H.; Lett, Tristram A.; Lewis, Lindsay B.; Lopes-Cendes, Iscia; Luciano, Michelle; Macciardi, Fabio; Marquand, Andre F.; Mathias, Samuel R.; Melzer, Tracy R.; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Moreira, Jose C.V.; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Najt, Pablo; Nakahara, Soichiro; Nho, Kwangsik; lde Loohuis, Loes M.O.; Orfanos, Dimitri Papadopoulos; Pearson, John F.; Pitcher, Toni L.; Pütz, Benno; Quidé, Yann; Ragothaman, Anjanibhargavi; Rashid, Faisal M.; Reay, William R.; Redlich, Ronny; Reinbold, Céline S.; Repple, Jonathan; Richard, Geneviève; Riedel, Brandalyn C.; Risacher, Shannon L.; Rocha, Cristiane S.; Roth Mota, Nina; Salminen, Lauren; Saremi, Arvin; Saykin, Andrew J.; Schlag, Fenja; Schmaal, Lianne; Schofield, Peter R.; Secolin, Rodrigo; Shapland, Chin Yang; Shen, Li; Shin, Jean; Shumskaya, Elena; Sønderby, Ida E.; Sprooten, Emma; Tansey, Katherine E.; Teumer, Alexander; Thalamuthu, Anbupalam; Tordesillas-Gutiérrez, Diana; Turner, Jessica A.; Uhlmann, Anne; Vallerga, Costanza Ludovica; van der Meer, Dennis; van Donkelaar, Marjolein M.J.; van Eijk, Liza; van Erp, Theo G.M.; van Haren, Neeltje E.M.; van Rooij, Daan; van Tol, Marie-José; Veldink, Jan H.; Verhoef, Ellen; Walton, Esther; Wang, Mingyuan; Wang, Yunpeng; Wardlaw, Joanna M.; Wen, Wei; Westlye, Lars T.; Whelan, Christopher D.; Witt, Stephanie H.; Wittfeld, Katharina; Wolf, Christiane; Wolfers, Thomas; Wu, Jing Qin; Yasuda, Clarissa L.; Zaremba, Dario; Zhang, Zuo; Zwiers, Marcel P.; Artiges, Eric; Assareh, Amelia A.; Ayesa-Arriol, Rosa; Belger, Aysenil; Brandt, Christine L.; Brown, Gregory G.; Cichon, Sven; Curran, Joanne E.; Davies, Gareth E.; Degenhard, Franziska; Dennis, Michelle F.; Dietsche, Bruno; Djurovic, Srdjan; Doherty, Colin P.; Espiritu, Ryan; Garijo, Daniel; Gil, Yolanda; Gowland, Penny A.; Green, Robert C.; Häusler, Alexander N.; Heindel, Walter; Ho, Beng-Choon; Hoffmann, Wolfgang U.; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Jack, Clifford R.,Jr.; Jang, MiHyun; Jansen, Andreas; Kimbrel, Nathan A.; Kolskår, Knut; Koops, Sanne; Krug, Axel; Lim, Kelvin O.; Luykx, Jurjen J.; Mathalon, Daniel H.; Mather, Karen A.; Mattay, Venkata S.; Matthews, Sarah; Mayoral Van Son, Jaqueline; McEwen, Sarah C.; Melle, Ingrid; Morris, Derek W.; Mueller, Bryon A.; Nauck, Matthias; Nordvik, Jan E.; Nöthen, Markus M.; O'Leary, Daniel S.; Opel, Nils; Paillère Martinot, Marie-Laure; Pike, G. Bruce; Preda, Adrian; Quinlan, Erin B.; Rasser, Paul E.; Ratnakar, Varun; Reppermund, Simone; Steen, Vidar M.; Tooney, Paul A.; Torres, Fábio R.; Veltman, Dick J.; Voyvodic, James T.; Whelan, Robert; White, Tonya; Yamamori, Hidenaga; Adams, Hieab H.H.; Bis, Joshua C.; Debette, Stephanie; Decarli, Charles; Fornage, Myriam; Gudnason, Vilmundur; Hofer, Edith; Ikram, M. Arfan; Launer, Lenore; Longstreth, W.T.; Lopez, Oscar L.; Mazoyer, Bernard; Mosley, Thomas H.; Roshchupkin, Gennady V.; Satizabal, Claudia L.; Schmidt, Reinhold; Seshadri, Sudha; Yang, Qiong; Alvim, Marina K.M.; Ames, David; Anderson, Tim J.; Andreassen, Ole A.; Arias-Vasquez, Alejandro; Bastin, Mark E.; Baune, Bernhard T.; Beckham, Jean C.; Blangero, John; Boomsma, Dorret I.; Brodaty, Henry; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Bustillo, Juan R.; Cahn, Wiepke; Cairns, Murray J.; Calhoun, Vince; Carr, Vaughan J.; Caseras, Xavier; Caspers, Svenja; Cavalleri, Gianpiero L.; Cendes, Fernando; Corvin, Aiden; Crespo-Facorro, Benedicto; Dalrymple-Alford, John C.; Dannlowski, Udo; de Geus, Eco J.C.; Deary, Ian J.; Delanty, Norman; Depondt, Chantal; Desrivières, Sylvane; Donohoe, Gary; Espeseth, Thomas; Fernández, Guillén; Fisher, Simon E.; Flor, Herta; Forstner, Andreas J.; Francks, Clyde; Franke, Barbara; Glahn, David C.; Gollub, Randy L.; Grabe, Hans J.; Gruber, Oliver; Håberg, Asta K.; Hariri, Ahmad R.; Hartman, Catharina A.; Hashimoto, Ryota; Heinz, Andreas; Henskens, Frans A.; Hillegers, Manon H.J.; Hoekstra, Pieter J.; Holmes, Avram J.; Hong, L. Elliot; Hopkins, William D.; Hulshoff Pol, Hilleke E.; Jernigan, Terry L.; Jönsson, Erik G.; Kahn, René S.; Kennedy, Martin A.; Kircher, Tilo T.J.; Kochunov, Peter; Kwok, John B.J.; Le Hellard, Stephanie; Loughland, Carmel M.; Martin, Nicholas G.; Martinot, Jean-Luc; McDonald, Colm; McMahon, Katie L.; Meyer-Lindenberg, Andreas; Michie, Patricia T.; Morey, Rajendra A.; Mowry, Bryan; Nyberg, Lars; Oosterlaan, Jaap; Ophoff, Roel A.; Pantelis, Christos; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W.J.H.; Polderman, Tinca J.C.; Posthuma, Danielle; Rietschel, Marcella; Roffman, Joshua L.; Rowland, Laura M.; Sachdev, Perminder S.; Sämann, Philipp G.; Schall, Ulrich; Schumann, Gunter; Scott, Rodney J.; Sim, Kang; Sisodiya, Sanjay M.; Smoller, Jordan W.; Sommer, Iris E.; St. Pourcain, Beate; Stein, Dan J.; Toga, Arthur W.; Trollor, Julian N.; Van der Wee, Nic J.A.; van't Ent, Dennis; Völzke, Henry; Walter, Henrik; Weber, Bernd; Weinberger, Daniel R.; Wright, Margaret J.; Zhou, Juan; Stein, Jason L.; Thompson, Paul M.; Medland, Sarah E.; Radiology and Imaging Sciences, School of Medicine
    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.
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    Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci
    (medRxiv, 2024-03-13) Strom, Nora I.; Gerring, Zachary F.; Galimberti, Marco; Yu, Dongmei; Halvorsen, Matthew W.; Abdellaoui, Abdel; Rodriguez-Fontenla, Cristina; Sealock, Julia M.; Bigdeli, Tim; Coleman, Jonathan R.; Mahjani, Behrang; Thorp, Jackson G.; Bey, Katharina; Burton, Christie L.; Luykx, Jurjen J.; Zai, Gwyneth; Alemany, Silvia; Andre, Christine; Askland, Kathleen D.; Banaj, Nerisa; Barlassina, Cristina; Becker Nissen, Judith; Bienvenu, O. Joseph; Black, Donald; Bloch, Michael H.; Boberg, Julia; Børte, Sigrid; Bosch, Rosa; Breen, Michael; Brennan, Brian P.; Brentani, Helena; Buxbaum, Joseph D.; Bybjerg-Grauholm, Jonas; Byrne, Enda M.; Cabana-Dominguez, Judith; Camarena, Beatriz; Camarena, Adrian; Cappi, Carolina; Carracedo, Angel; Casas, Miguel; Cavallini, Maria Cristina; Ciullo, Valentina; Cook, Edwin H.; Crosby, Jesse; Cullen, Bernadette A.; De Schipper, Elles J.; Delorme, Richard; Djurovic, Srdjan; Elias, Jason A.; Estivill, Xavier; Falkenstein, Martha J.; Fundin, Bengt T.; Garner, Lauryn; German, Chris; Gironda, Christina; Goes, Fernando S.; Grados, Marco A.; Grove, Jakob; Guo, Wei; Haavik, Jan; Hagen, Kristen; Harrington, Kelly; Havdahl, Alexandra; Höffler, Kira D.; Hounie, Ana G.; Hucks, Donald; Hultman, Christina; Janecka, Magdalena; Jenike, Eric; Karlsson, Elinor K.; Kelley, Kara; Klawohn, Julia; Krasnow, Janice E.; Krebs, Kristi; Lange, Christoph; Lanzagorta, Nuria; Levey, Daniel; Lindblad-Toh, Kerstin; Macciardi, Fabio; Maher, Brion; Mathes, Brittany; McArthur, Evonne; McGregor, Nathaniel; McLaughlin, Nicole C.; Meier, Sandra; Miguel, Euripedes C.; Mulhern, Maureen; Nestadt, Paul S.; Nurmi, Erika L.; O'Connell, Kevin S.; Osiecki, Lisa; Ousdal, Olga Therese; Palviainen, Teemu; Pedersen, Nancy L.; Piras, Fabrizio; Piras, Federica; Potluri, Sriramya; Rabionet, Raquel; Ramirez, Alfredo; Rauch, Scott; Reichenberg, Abraham; Riddle, Mark A.; Ripke, Stephan; Rosário, Maria C.; Sampaio, Aline S.; Schiele, Miriam A.; Skogholt, Anne Heidi; Sloofman, Laura G.; Smit, Jan; Soler, Artigas María; Thomas, Laurent F.; Tifft, Eric; Vallada, Homero; van Kirk, Nathanial; Veenstra-VanderWeele, Jeremy; Vulink, Nienke N.; Walker, Christopher P.; Wang, Ying; Wendland, Jens R.; Winsvold, Bendik S.; Yao, Yin; Zhou, Hang; 23andMe Research Team; VA Million Veteran Program; Estonian Biobank; CoGa research team; iPSYCH; HUNT research team; NORDiC research team; Agrawal, Arpana; Alonso, Pino; Berberich, Götz; Bucholz, Kathleen K.; Bulik, Cynthia M.; Cath, Danielle; Denys, Damiaan; Eapen, Valsamma; Edenberg, Howard; Falkai, Peter; Fernandez, Thomas V.; Fyer, Abby J.; Gaziano, J. M.; Geller, Dan A.; Grabe, Hans J.; Greenberg, Benjamin D.; Hanna, Gregory L.; Hickie, Ian B.; Hougaard, David M.; Kathmann, Norbert; Kennedy, James; Lai, Dongbing; Landén, Mikael; Le Hellard, Stéphanie; Leboyer, Marion; Lochner, Christine; McCracken, James T.; Medland, Sarah E.; Mortensen, Preben B.; Neale, Benjamin M.; Nicolini, Humberto; Nordentoft, Merete; Pato, Michele; Pato, Carlos; Pauls, David L.; Piacentini, John; Pittenger, Christopher; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Rasmussen, Steven A.; Richter, Margaret A.; Rosenberg, David R.; Ruhrmann, Stephan; Samuels, Jack F.; Sandin, Sven; Sandor, Paul; Spalletta, Gianfranco; Stein, Dan J.; Stewart, S. Evelyn; Storch, Eric A.; Stranger, Barbara E.; Turiel, Maurizio; Werge, Thomas; Andreassen, Ole A.; Børglum, Anders D.; Walitza, Susanne; Hveem, Kristian; Hansen, Bjarne K.; Rück, Christian P.; Martin, Nicholas G.; Milani, Lili; Mors, Ole; Reichborn-Kjennerud, Ted; Ribasés, Marta; Kvale, Gerd; Mataix-Cols, David; Domschke, Katharina; Grünblatt, Edna; Wagner, Michael; Zwart, John-Anker; Breen, Gerome; Nestadt, Gerald; Kaprio, Jaakko; Arnold, Paul D.; Grice, Dorothy E.; Knowles, James A.; Ask, Helga; Verweij, Karin J.; Davis, Lea K.; Smit, Dirk J.; Crowley, James J.; Scharf, Jeremiah M.; Stein, Murray B.; Gelernter, Joel; Mathews, Carol A.; Derks, Eske M.; Mattheisen, Manuel; Biochemistry and Molecular Biology, School of Medicine
    Obsessive-compulsive disorder (OCD) affects ~1% of the population and exhibits a high SNP-heritability, yet previous genome-wide association studies (GWAS) have provided limited information on the genetic etiology and underlying biological mechanisms of the disorder. We conducted a GWAS meta-analysis combining 53,660 OCD cases and 2,044,417 controls from 28 European-ancestry cohorts revealing 30 independent genome-wide significant SNPs and a SNP-based heritability of 6.7%. Separate GWAS for clinical, biobank, comorbid, and self-report sub-groups found no evidence of sample ascertainment impacting our results. Functional and positional QTL gene-based approaches identified 249 significant candidate risk genes for OCD, of which 25 were identified as putatively causal, highlighting WDR6, DALRD3, CTNND1 and genes in the MHC region. Tissue and single-cell enrichment analyses highlighted hippocampal and cortical excitatory neurons, along with D1- and D2-type dopamine receptor-containing medium spiny neurons, as playing a role in OCD risk. OCD displayed significant genetic correlations with 65 out of 112 examined phenotypes. Notably, it showed positive genetic correlations with all included psychiatric phenotypes, in particular anxiety, depression, anorexia nervosa, and Tourette syndrome, and negative correlations with a subset of the included autoimmune disorders, educational attainment, and body mass index. This study marks a significant step toward unraveling its genetic landscape and advances understanding of OCD genetics, providing a foundation for future interventions to address this debilitating disorder.