Citations 7
Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder
Veen, Tracey van der , Tesfaye, Markos , Yang, Jessica , Boltz, Toni , David, Friederike S. , Crinion, Shane , Koromina, Maria , Bigdeli, Tim B., Coombes, Brandon J., Panagiotaropoulou, Georgia, Parker, Nadine, Sung, Heejong , Bass, Nicholas, Coleman, Jonathan R. I., Guzman-Parra, José , Kálmán, János , McGrouther, Caroline C., Rangan, Aaditya V. , Scott, Katie , Vreeker, Annabel , Bauer, Michael , Brunkhorst-Kanaan, Nathalie, Byerley, William , Cervantes, Pablo , Chatzinakos, Chris , Claus, Isabelle , Cruceanu, Cristiana , Cuellar-Barboza, Alfredo, Dafnas, Konstantinos , Degenhardt, Franziska, Fanous, Ayman H. , Ferrier, I. Nicol , Forty, Liz , Frank, Josef , Freimer, Nelson B. , Hamshere, Marian L., Harder, Arvid , Hautzinger, Martin , Hellgren, Dennis, Hoffmann, Per, Jönsson, Lina , Kittel‐Schneider, Sarah , Knowles, James A. , Lavebratt, Catharina , Lawrence, Jacob , Leber, Markus , Lucae, Susanne , Lundberg, Martin , Maier, Wolfgang , Maihofer, Adam X. , Maratou, Eirini , McKay, James , Medeiros, Helena , Meyer‐Lindenberg, Andreas , Moutsatsou, Paraskevi , Mühleisen, Thomas W. , O’Connell, Kevin S. , Papiol, Sergi , Perry, Amy , Pisanu, Claudia , Potash, James B. , Rapaport, Mark Hyman , Regeer, Eline J. , Rice, John P. , Schulte, Eva C. , Senner, Fanny , Shilling, Paul D. , Sirignano, Lea , Slaney, Claire , Smeland, Olav B. , Sobell, Janet L. , Stein, Dan J. , Vawter, Marquis P. , Vedder, Helmut , Witt, Stephanie H. , Zandi, Peter P. , Investigators, Genomic Psychiatry Cohort (GPC), Psychiatry, HUNT All-In, Bengesser, Susanne , Berrettini, Wade H. , Blackwood, Douglas, Boehnke, Michael , Catts, Stanley V. , Craddock, Nicholas , Dikeos, Dimitris , Ferentinos, Panagiotis , Frye, Mark A. , Gawlik, Micha , Kahn, René S., Landén, Mikael , Lenger, Melanie , Loughland, Carmel , Melle, Ingrid , Myers, R , Müller‐Myhsok, Bertram , Neale, Benjamin M. , Øedegaard, Ketil J. , Paciga, Sara A. , Pato, Carlos N. , Pawlak, Joanna , Perlis, Roy H. , Reif, Andreas , Schalling, Martin , Scott, Laura J. , Scott, Rodney J., Stahl, Eli A. , Stordal, Eystein , Sullivan, Patrick F., Vaaler, Arne E. , Waldman, Irwin D. , Ophoff, Roel A. , Mullins, Niamh , Forstner, Andreas J. , van der Veen, Tracey , Yang, Jessica Mei Kay , Alda, Martin , Ophoff, Roel A , O'Connell, Kevin S , Mullins, Niamh , Forstner, Andreas J , Grigoroiu-Serbanescu, Maria , Edenberg, Howard J , McMahon, Francis , Andreassen, Ole A , Di Florio, Arianna , McQuillin, Andrew , Witt, Stephanie H , Meyer-Lindenberg, Andreas , Stein, Dan J , Papiol, Sergi , Cruceanu, Cristiana , Schulte, Eva , Kittel-Schneider, Sarah , Lavebratt, Catharina , Pisanu, Claudia , Reif, Andreas , Perlis, Roy H , Andlauer, Till F. M. , Bigdeli, Tim B. , Coombes, Brandon J. , Greenwood, Tiffany A. , Panagiotaropoulou, Georgia , Parker, Nadine , Bass, Nicholas, Coleman, Jonathan Ri , Mitchell, Brittany L. , Shadrin, Alexey A. , Smith, Daniel J. , Adorjan, Kristina , Albani, Diego , Alemany, Silvia , Alliey‐Rodriguez, Ney , Antoniou, Anastasia , Beins, Eva Carolina , Boks, Marco P. , Bosch, Rosa , Brumpton, Ben , Budde, Monika , Cabana‐Domínguez, Judit , Cairns, Murray J. , Carpiniello, Bernardo , Casas, Miguel , Clarke, Toni‐Kim , Cuéllar‐Barboza, Alfredo B. , Czerski, Piotr M. , Dale, Anders M. , Dalkner, Nina , DePaulo, J Raymond , Djurovic, Srdjan , Escott‐Price, Valentina , Fellendorf, Frederike T. , Frei, Oleksandr , Garnham, Julie , Gizer, Ian R. , Gordon, Scott D. , Gordon‐Smith, Katherine , Hahn, Tim , Hamshere, Marian L. , Heilbronner, Urs , Herms, Stefan , Hickie, Ian Bernard , Hoffmann, Per , Holmans, Peter , Jamain, Stéphane , Kennedy, James L. , Koch, Elise , Kogevinas, Manolis , Kranz, Thorsten M. , Kushner, Steven A. , Lind, Penelope A. , Lundberg, Martin, MacIntyre, Donald J. , Malaspina, Dolores , Manchia, Mirko , Martinsson, Lina , McInnis, Melvin G. , Millischer, Vincent , Morris, Derek W. , Olsen, Catherine M. , Pardiñas, Antonio F. , Pfennig, Andrea , Quested, Digby J. , Rivera, Margarita , Sindermann, Lisa , Siskind, Dan , Artigas, María Soler , Stein, Frederike , Świątkowska, Beata , Thorp, Jackson G. , Toma, Claudio , Tondo, Leonardo , Tooney, Paul A. , Walters, James , Young, Allan H. , Zillich, Lea , Adolfsson, Rolf , Alfredsson, Lars , Backlund, Lena , Baune, Bernhard , Bellivier, Frank , Biernacka, Joanna M. , Blackwood, Douglas , Breen, Gerome , Carr, Vaughan J , Cichon, Sven , Corvin, Aiden , Dannlowski, Udo , Esko, Tõnu , Étain, Bruno , Fullerton, Janice M. , Gershon, Elliot S. , Goes, Fernando , Green, Melissa J. , Hauser, Joanna , Henskens, Frans A , Hjerling‐Leffler, Jens , Jones, Ian Richard , Jones, Lisa Anne , Kahn, René S. , Kelsoe, John R , Kircher, Tilo , Kirov, George , Kobayashi, Nene, Leboyer, Marion , Li, Qingqin S. , Lissowska, Jolanta , Loughland, Carmel M. , Luykx, Jurjen J. , Martin, Nicholas G. , Mathews, Carol A. , Mayoral, Fermín , McElroy, Susan L. , McIntosh, Andrew M. , Medland, Sarah E. , Mitchell, Philip B , Morken, Gunnar , Möser, Chiara, Nievergelt, Caroline M , Nurnberger, John I , Nöthen, Markus M. , O‘Donovan, Michael , Olsson, Tomas , Owen, Michael J. , Pantelis, Christos , Pato, Michele T. , Patrinos, George P. , Ramos‐Quiroga, Josep Antoni , Reininghaus, Eva , Ribasés, Marta , Rietschel, Marcella , Ripke, Stephan , Rouleau, Guy Armand , Schall, Ulrich , Schofield, Peter R. , Schulze, Thomas , Scott, Rodney J. , Serretti, Alessandro , Smoller, Jordan W. , Squassina, Alessio , Streit, Fabian , Turecki, Gustavo , Vieta, Eduard , Vincent, John B. , Weickert, Cynthia Shannon , Weickert, Thomas Wesley , Whiteman, David C. , Alda, Martin , Grigoroiu‐Serbânescu, Maria , McMahon, Francis J. , Andreassen, Ole A. , McQuillin, Andrew
No container title available | June 25, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available
ABSTRACT Bipolar disorder’s (BD) clinical heterogeneity has an unresolved genetic basis. We meta-analyzed genome-wide association studies (GWAS) of 16 BD subphenotypes in 226,032 individuals from 57 cohorts (38,022 cases); 10 advanced to multivariate and multi-trait analyses. Four factors (compulsive, psychotic, dysregulated, internalizing) explained 82.8% of shared genetic variance. BD1 and BD2 loaded on distinct factors despite a high genetic correlation; 87.0% of common-factor loci were significant in neither subtype. Unipolar mania aligned with psychosis over internalizing, and was distinguishable from BD1, and rapid cycling showed heritable cross-domain liability. We identified 356 risk loci, 158 novel, including the first univariate-GWAS associations for psychosis, unipolar mania, rapid cycling and schizoaffective disorder—and 249 credible genes (89 high-confidence), 12 with approved-drug or clinical-phase annotations. Cell-type association showed a midbrain dopaminergic–GABAergic gradient along the psychotic factor. BD’s genetic architecture appears hierarchical—a general liability resolving into dimensions of course and comorbidity beyond diagnostic subtypes.
The genetic architecture of the human cerebral cortex
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Mallar , Dohm, Katharina , Lam, Max , Lett, Tristram A. P. , Lopes‐Cendes, Íscia , Nho, Kwangsik T. , Pütz, Benno , Rashid, Faisal M. , Saykin, Andrew J. , Schofield, Peter R. , Shen, Li , Veldink, Jan H. , Witt, Stephanie H. , Gil, Yolanda , Jack, Clifford R. , Kimbrel, Nathan A. , Kolskår, Knut K. , Matthews, Sarah , Nauck, Matthias A. , Opel, Nils , Pike, G. Bruce , Launer, Lenore J. , Mosley, Thomas H. , Seshadri, Sudha , Yang, Qiong , Initiative¶, Alzheimer’s Disease Neuroimaging, Initiative¶, Parkinson’s Progression Markers, Andreassen, Ole A. , Vásquez, Alejandro Arias , Bastin, Mark E. , Baune, Bernhard , Fernández, Guillén , Grabe, Hans Jörgen , Hopkins, William Donald , Jernigan, Terry L. , Kochunov, Peter V , Kwok, John B. , Martin, Nicholas G. , McDonald, Colm , Ophoff, Roel A. , Paus, Tomáš , Sisodiya, Sanjay , Smoller, Jordan W. , Toga, Arthur W. , Walter, Henrik , Stein, Jason L.
Science | March 19, 2020 | Volume: 367 | Issue: 6484 | Pages: No page available
INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. RATIONALE To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. RESULTS We identified 369 nominally genome-wide significant loci ( P < 5 × 10 −8 ) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 360 loci for which replication data were available, 241 loci influencing surface area and 66 influencing thickness remained significant after replication, with 237 loci passing multiple testing correction ( P < 8.3 × 10 −10 ; 187 influencing surface area and 50 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation ( r G = −0.32, SE = 0.05, P = 6.5 × 10 −12 ), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness. To identify specific genetic influences on individual cortical regions, we controlled for global measures (total surface area or average thickness) in the regional analyses. After multiple testing correction, we identified 175 loci that influence regional surface area and 46 that influence regional thickness. Loci that affect regional surface area cluster near genes involved in the Wnt signaling pathway, which is known to influence areal identity. We observed significant positive genetic correlations and evidence of bidirectional causation of total surface area with both general cognitive functioning and educational attainment. We found additional positive genetic correlations between total surface area and Parkinson’s disease but did not find evidence of causation. Negative genetic correlations were evident between total surface area and insomnia, attention deficit hyperactivity disorder, depressive symptoms, major depressive disorder, and neuroticism. CONCLUSION This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, we find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function. Identifying genetic influences on human cortical structure. ( A ) Measurement of cortical surface area and thickness from MRI. ( B ) Genomic locations of common genetic variants that influence global and regional cortical structure. ( C ) Our results support the radial unit hypothesis that the expansion of cortical surface area is driven by proliferating neural progenitor cells. ( D ) Cortical surface area shows genetic correlation with psychiatric and cognitive traits. Error bars indicate SE. IMAGE CREDITS: (A) K. COURTNEY; (C) M. R. GLASS
Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies
Munn‐Chernoff, Melissa A. , Chou, Yi‐Ling, Coleman, Jonathan R. I. , Thornton, Laura M. , Walters, Raymond K. , Yılmaz, Zeynep , Baker, Jessica H. , Hübel, Christopher , Medland, Sarah E. , Hinney, Anke , Leppä, Virpi , Mattheisen, Manuel , Ripke, Stephan , Yao, Shuyang , Giusti‐Rodríguez, Paola , Hanscombe, Ken B. , Adan, Roger A.H. , Ando, Tetsuya , Berrettini, Wade H., Boehm, Ilka , Boni, Claudette, Perica, Vesna Boraska , Buehren, Katharina, Burghardt, Roland , Cassina, Matteo , Cichon, Sven , Clementi, Maurizio , Courtet, Philippe, Crowley, James J. , Danner, Unna N. , Davis, Oliver S. P. , Zwaan, Martina de, Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian , Dmitrzak‐Węglarz, Monika , Docampo, Elisa, Duncan, Laramie E. , Egberts, Karin , Ehrlich, Stefan , Escaramís, Geòrgia, Estivill, Xavier , Farmer, Anne, Favaro, Angela , Fernández‐Aranda, Fernando , Fichter, Manfred M., Fischer, Krista , Föcker, Manuel , Foretová, Lenka , Forstner, Andreas J. , Franklin, Christopher S., Gallinger, Steven , Giegling, Ina , Giuranna, Johanna, Gonidakis, Fragiskos , Gorwood, Philip , Mayora, Monica Gratacos, Guo, Yiran , Håkonarson, Håkon , Hatzikotoulas, Konstantinos , Hebebrand, Johannes , Helder, Sietske G., Herpertz‐Dahlmann, Beate, Herzog, Wolfgang , Huckins, Laura M. , Hudson, James I. , Imgart, Hartmut , Inoko, Hidetoshi , Janout, Vladimír , Jiménez‐Múrcia, Susana , Kalsi, Gursharan , Kaminská, Deborah , Karwautz, Andreas , Kas, Martien J. , Keski‐Rahkonen, Anna , Kiezebrink, Kirsty , Kim, Youl‐Ri , Klump, Kelly L. , Knudsen, Gun Peggy , Via, Maria C. La, Hellard, Stéphanie Le , Levitan, Robert D., Lilenfeld, Lisa , Lin, Bochao , Lissowska, Jolanta , Luykx, Jurjen J. , Magistretti, Pierre J. , Maj, Mario , Männik, Katrin , Marsal, Sara , Marshall, Christian R. , McDevitt, Sara , McGuffin, Peter, Meulenbelt, Ingrid, Navratilova, Marie, Ντάλλα, Ιωάννα , O’Toole, Julie K., Padyukov, Leonid , Palotie, Aarno , Pantel, Jacques , Papežová, Hana , Pinto, Dalila , Rabionet, Raquel , Raevuori, Anu , Ramoz, Nicolás , Reichborn‐Kjennerud, Ted , Ricca, Valdo , Ritschel, Franziska , Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip , Scherer, Stephen W. , Schmidt, Ulrike , Schork, Nicholas J. , Schosser, Alexandra , Šlachtová, Lenka , Landt, M , Slopien, Agnieszka, Sorbi, Sandro , Świątkowska, Beata , Szatkiewicz, Jin P., Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso , Tozzi, Federica, Treasure, Janet , Tziouvas, Konstantinos , Elburg, Annemarie , Furth, Eric F. van , Wagner, Gudrun , Walton, Esther , Widén, Elisabeth , Zerwas, Stephanie , Zipfel, Stephan, Bergen, Andrew W. , Brandt, Harry, Crawford, Steven , Halmi, Katherine A. , Johnson, Craig, Kaplan, Allan S. , Kaye, Walter H. , Mitchell, James E. , Olsen, Catherine M. , Pedersen, Nancy L. , Strober, Michael, Whiteman, David C. , Woodside, D. Blake , Grove, Jakob , Henders, Anjali K. , Larsen, Janne Tidselbak , Petersen, Liselotte , Jordan, Jennifer , Kennedy, Martin A. , Birgegård, Andreas , Landén, Mikael , Polimanti, Renato , McClintick, Jeanette N. , Adkins, Amy , Alıev, Fazil , Bacanu, Silviu‐Alin , Batzler, Anthony , Bertelsen, Sarah , Chen, Li‐Shiun , Degenhardt, Franziska , Docherty, Anna R. , Edwards, Alexis C. , Foo, Jerome C. , Fox, Louis , Frank, Josef , Hack, Laura M. , Hartmann, Annette M. , Hartz, Sarah M. , Hodgkinson, Colin A. , Hottenga, Jouke‐Jan, Konte, Bettina , Lahti, Jari , Lahti‐Pulkkinen, Marius , Ligthart, Lannie , Loukola, Anu , Maher, Brion S. , Mbarek, Hamdi , McIntosh, Andrew M. , McQueen, Matthew B. , Meyers, Jacquelyn L. , Milaneschi, Yuri , Palviainen, Teemu , Ryu, Euijung , Saccone, Nancy L. , Salvatore, Jessica E. , Streit, Fabian , Wang, Jen‐Chyong , Webb, Bradley T. , Wetherill, Leah , Wills, Amanda G. , Zhou, Hang , Boardman, Jason D., Chen, Danfeng , Copeland, William , Culverhouse, Robert , Dahmen, Norbert, Domingue, Benjamin W. , Frye, Mark A. , Gäebel, Wolfgang , Ising, Marcus, Keyes, Margaret A., Kiefer, Falk , Koller, Gabriele , Kuperman, Samuel , Lucae, Susanne , Lynskey, Michael T. , Maier, Wolfgang , Müller‐Myhsok, Bertram , Preuss, Ulrich W. , Räikkönen, Katri , Reynolds, Maureen , Ridinger, Monika , Schuckit, Marc A. , Soyka, Michael , Wodarz, Norbert , Zill, Peter , Adkins, Daniel E. , Bucholz, Kathleen K. , Diazgranados, Nancy , Goate, Alison , Goldman, David , Hancock, Dana B. , Hewitt, John K. , Johnson, Eric O. , Krauter, Kenneth , Lind, Penelope A. , McGue, Matt , MacKillop, James , Madden, Pamela A. F. , Maes, Hermine H. , Magnusson, Patrik K. E. , Nelson, Elliot C. , Nöthen, Markus M. , Penninx, Brenda W.J.H. , Porjesz, Bernice , Rice, John P. , Rose, Richard J. , Shen, Pei‐Hong , Silberg, Judy L. , Tarter, Ralph E. , Vrieze, Scott , Zhao, Hongyu , Neale, Benjamin M. , Wade, Tracey , Sullivan, Patrick F., Kaprio, Jaakko , Breen, Gerome , Hottenga, Jouke‐Jan , Hakonarson, Hakon , Lissowska, Jolanta , Kennedy, Martin A , Ehrlich, Stefan , Hottenga, Jouke-Jan , Walton, Esther , Cichon, Sven , Luykx, Jurjen J , Nöthen, Markus M , Le Hellard, Stephanie , Penninx, Brenda W J H , Medland, Sarah E , Rabionet, Raquel , Estivil, Xavier , Padyukov, Leonid , Świątkowska, Beata , Dina, Christian , Palotie, Aarno V. , Ripke, Stephan , Whiteman, David C , Scherer, Stephen W , Tortorella, Alfonso , Streit, Fabian , Egberts, Karin , Goate, Alison M , Docherty, Anna R , Johnson, Eric O , Coleman, Jonathan Ri , Johnson, Emma C. , Gordon, Scott D. , Watson, Hunna J. , Gaspar, Héléna A. , Bryois, Julien , Alfredsson, Lars , Andreassen, Ole A. , Boehm, Ilka , Cone, Roger D. , Courtet, Philippe , Crow, Scott J. , Dedoussis, George , Dick, Danielle M. , Dikeos, Dimitris , Escaramís, Geòrgia , Esko, Tõnu , Forzan, Monica , Guillaume, Sébastien , Hauser, Joanna , Herms, Stefan , Herpertz-Dahlmann, Beate , Julià, Antonio , Karhunen, Leila J. , Kennedy, James L. , Li, Dong , Mattingsdal, Morten , Metspalu, Andres , Micali, Nadia , Mitchell, Karen S. , Monteleone, Alessio Maria , Monteleone, Palmiero , Nacmias, Benedetta , Ophoff, Roel A. , Ripatti, Samuli , Roberts, Marion , Santonastaso, Paolo , Scherag, André , Seitz, Jochen , Slagboom, P. Eline , Tenconi, Elena , Τσίτσικα, Άρτεμις , Tyszkiewicz‐Nwafor, Marta , Zeggini, Eleftheria , Boden, Joseph M. , Horwood, L. John , Pearson, John F , Werge, Thomas Mears , Parker, Richard , Lichtenstein, Paul , Norring, Claes E. A. , Mortensen, Preben Bo , Biernacka, Joanna M. , Bigdeli, Tim B. , Clarke, Toni‐Kim , Heilmann‐Heimbach, Stefanie , Hoffmann, Per , Lai, Dongbing , Peterson, Roseann Elizabeth , Sanchez-Roige, Sandra , Schwandt, Melanie L. , Sherva, Richard , Strohmaier, Jana , Thomas, Nathaniel , Wedow, Robbee , Boardman, Jason D., Choi, Doo‐Sup , Degenhardt, Louisa J , Hayward, Caroline , Kramer, John R. , Mann, Karl F , Männistö, Satu , Murray, Alison D. , Nurnberger, John I , Scherbaum, Norbert , Treutlein, Jens , Witt, Stephanie H. , Boomsma, Dorret I , Bierut, Laura Jean , Brown, Sandra A. , Costello, E. Jane , Wit, Harriet de , Eriksson, Johan G. , Farrer, Lindsay A. , Foroud, Tatiana , Gillespie, Nathan A. , Grucza, Richard A. , Harris, Kathleen Mullan , HESSELBROCK, VICTOR M. , Hopfer, Christian Jean , Iacono, William G. , Karpyak, Victor M. , Kendler, Kenneth S. , Kranzler, Henry R. , Palmer, Abraham A. , Rietschel, Marcella , Riley, Brien P. , Stallings, Michael C. , Vanyukov, Michael M. , Wall, Tamara L. , Whitfield, John B. , Heath, Andrew C. , Montgomery, Grant W. , Martin, Nicholas G. , Gelernter, Joel E. , Edenberg, Howard J , Bulik, Cynthia Marie , Agrawal, Arpana , Webb, Bradley T.
Addiction Biology | February 17, 2020 | Volume: 26 | Issue: 1 | Pages: No page available
Abstract Eating disorders and substance use disorders frequently co‐occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [ r g ], twin‐based = 0.23‐0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome‐wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance‐use‐related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism‐based genetic correlations between eating disorder‐ and substance‐use‐related phenotypes. Significant positive genetic associations emerged between AUD and AN ( r g = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN ( r g = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating ( r g = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating ( r gs = −0.19 to −0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co‐varying for major depressive disorder loci. The patterns of association between eating disorder‐ and substance‐use‐related phenotypes highlights the potentially complex and substance‐specific relationships among these behaviors.
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations
Fehringer, Gordon , Kraft, Peter , Eeles, Rosalind A. , Chatterjee, Nilanjan , Schumacher, Fredrick R. , Schildkraut, Joellen M. , Lindström, Sara , Brennan, Paul , Bickeböller, Heike , Houlston, Richard S. , Landi, Maria Teresa , Caporaso, Neil E. , Risch, Angela , Olama, Ali Amin Al , Berndt, Sonja I. , Giovannucci, Edward L. , Grönberg, Henrik , Muir, Kenneth , Stampfer, Meir J. , Stevens, Victoria L. , Goode, Ellen L. , Reid, Brett M. , Brenner, Hermann , Chang‐Claude, Jenny , Kocarnik, Jonathan K., Slattery, Martha L. , Adank, Muriel A. , Ahsan, Habibul , Aittomäki, Kristiina, Baglietto, Laura , Blomquist, Carl, Canzian, Federico , Eliassen, A. Heather , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Fletcher, Olivia , García‐Closas, Montserrat , Gaudet, Mia M. , Johnson, Nichola , Hazra, Aditi , Hein, Rebecca, Hofman, Albert , Irwanto, Astrid , Johansson, Mattias , Lichtner, Peter , Liu, Jianjun , Lund, Eiliv , Makalic, Enes , Meindl, Alfons , Müller‐Myhsok, Bertram , Muranen, Taru , Peeters, Petra H., Peto, Julian, Prentice, Ross L. , Sánchez, María‐José , Schmutzler, Rita K. , Southey, Melissa C. , Travis, Ruth C. , Turnbull, Clare , Uitterlinden, André G. , Wang, Zhaoming , Whittemore, Alice S. , Yang, Xiaohong R. , Zheng, Wei , Buchanan, Daniel D. , Casey, Graham , Conti, David V. , Edlund, Christopher K., Gallinger, Steven , Haile, Robert W. , Jenkins, Mark A. , Li, Li , Lindor, Noralene M., Schmit, Stephanie L. , Thibodeau, Stephen N. , Woods, Michael O. , Rafnar, Þórunn , Guðmundsson, Jūlı́us, Stacey, Simon , Stefánsson, Kāri , Sulem, Patrick , Chen, Y. Ann , Wei, Yongyue , Shen, Hongbing , Hu, Zhibin , Obeidat, Ma’en , Nickle, David C. , Timens, Wim , Freedman, Matthew L. , Seminara, Daniela, Gong, Jian , Peters, Ulrike , Gruber, Stephen B. , Sellers, Thomas A. , Easton, Douglas F. , Hunter, David J. , Haiman, Christopher A. , Henderson, Brian E., Hung, Rayjean J., Batra, Jyotsna , Hung, Rayjean J. , Pharoah, Paul D.P. , Kote‐Jarai, Zsofia , Ma, Jing , Wiklund, Fredrik E. , Willett, Walter C. , Permuth, Jennifer B. , Risch, Harvey A. , Bezieau, Stéphane , Chan, Andrew T. , Hudson, Thomas J , Newcomb, Polly A. , Schoen, Robert E. , White, Emily E. , Czene, Kamila , dos‐Santos‐Silva, Isabel , Hall, Per N , Hopper, John L. , Kaaks, Rudolf , Kibriya, Muhammad Ghulam , Meindl, Alfons , Nevanlinna, Heli , Rahman, Nazneen , Schmidt, Daniel F. , Tamimi, Rulla M. , Marchand, Loı̈c Le , Tyrer, Jonathan P. , Christiani, David C. , Shu, Xiao‐Ou , Shiraishi, Kouya , Takahashi, Atsushi , Bossé, Yohan , Li, Qiyuan , Chanock, Stephen Jacob , Amos, Christopher I. , Hung, Rayjean J., Buchanan, Daniel D , Houlston, Richard S , Eeles, Rosalind A , Southey, Melissa C , Jenkins, Mark A , Canzian, Federico , Hung, Rayjean J , Muir, Kenneth , Travis, Ruth C , Haile, Robert W , Wang, Zhaoming , Brenner, Hermann , Muranen, Taru A , García-Closas, Montserrat , Makalic, Enes , Kraft, Peter , Zheng, Wei , Figueroa, Jonine D , Eliassen, A Heather , Conti, David V , Batra, Jyotsna , Johansson, Mattias , Baglietto, Laura , Fletcher, Olivia , Sánchez, Maria-Jose , Risch, Angela , Bickeböller, Heike , Shen, Hongbing , Timens, Wim , Liu, Jing
Cancer Research | April 21, 2016 | Volume: 76 | Issue: 17 | Pages: 5103-5114
Abstract Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung. We also identified a known breast cancer locus CASP8/ALS2CR12 associated with prostate cancer, a known cancer locus at CDKN2B-AS1 with different variants associated with lung adenocarcinoma and prostate cancer, and confirmed the associations of a breast BRCA2 locus with lung and serous ovarian cancer. This is the largest study to date examining pleiotropy across multiple cancer-associated loci, identifying common mechanisms of cancer development and progression. Cancer Res; 76(17); 5103–14. ©2016 AACR.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Lin, Wei‐Yu , Camp, Nicola J. , Ghoussaini, Maya , Beesley, Jonathan, Michailidou, Kyriaki , Hopper, John L. , Apicella, Carmel, Southey, Melissa C. , Stone, Jennifer , Schmidt, Marjanka K. , Veer, Laura J. van’t , Muir, Kenneth , Lophatananon, Artitaya, Stewart‐Brown, Sarah , Siriwanarangsan, Pornthep, Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian, dos‐Santos‐Silva, Isabel , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Wang, Qin, Sawyer, Elinor J. , Cheng, Timothy, Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Surowy, Harald , Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Ménégaux, F. , Mulot, Claire , Bojesen, Stig E. , Nordestgaard, Børge G. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Pérez, José Ignacio Arias , Menéndez, Primitiva, González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Brenner, Hermann , Dieffenbach, Aida Karina, Stegmaier, Christa, Meindl, Alfons , Lichtner, Peter , Schmutzler, Rita K., Müller‐Myhsok, Bertram , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Network, The GENICA, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Nevanlinna, Heli , Aittomäki, Kristiina, Blomqvist, Carl , Khan, Sofia , Matsuo, Keitaro , Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia , Antonenkova, Natalia, Dörk, Thilo , Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti, Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wu, Anna H. , Tseng, Chiu-Chen , Neven, Patrick , Wauters, Els , Wildiers, Hans , Lambrechts, Diether , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Couch, Fergus J. , Vachon, Celine M. , Purrington, Kristen S. , Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Simard, Jacques , Goldberg, Mark S. , Dumont, Martine , Teo, Soo‐Hwang , Yip, Cheng Har , Vithana, Eranga N. , Kristensen, Vessela N. , Deming-Halverson, Sandra, Shrubsole, Martha J. , Long, Jirong , Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Kauppila, Saila , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Brinton, Louise A. , Czene, Kamila , Darabi, Hatef, Eriksson, Mikael , Brand, Judith S. , Hooning, Maartje J. , Hollestelle, Antoinette , Ouweland, Ans M.W. van den, Jager, Agnes , Li, Jingmei , Liu, Jianjun , Humphreys, Keith , Shu, Xiao‐Ou , Lu, Wei , Gao, Yu‐Tang , Cai, Hui , Cross, Simon S. , Reed, Malcolm , Blot, William J. , Signorello, Lisa B., Cai, Qiuyin, Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee , Yoo, Keun-Young, Noh, Dong‐Young , Hartman, Mikael , Miao, Hui , Chia, Kee Seng , Putti, Thomas Choudary , Hamann, Ute , Luccarini, Craig , Baynes, Caroline, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn , Gaborieau, Valérie , Brennan, Paul , McKay, James , Slager, Susan, Yannoukakos, Drakoulis , Hsiung, Chia‐Ni , Wu, Pei‐Ei , Ding, Shian-ling, Ashworth, Alan , Jones, Michael E. , Orr, Nick , Swerdlow, Anthony J. , Makalic, Enes , Bui, Minh , Hunter, David J. , Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars , Aaltonen, Kirsimari, Muranen, Taru , Heikkinen, Tuomas , Irwanto, Astrid , Rahman, Nazneen , Turnbull, Clare , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Adank, Muriel A. , Luijt, Rob B. van der , Chenevix‐Trench, Georgia , Dunning, Alison M. , Easton, Douglas F. , Cox, Angela , Durocher, Francine , Zheng, Wei , Thorne, Heather , Lambrechts, Diether , Vachon, Celine, Broeks, Annegien , Rutgers, Emiel J. , Wang, Qin, Dennis, Joe , Marmé, Frederik , Anton‐Culver, Hoda , Arndt, Volker , Meindl, Alfons , Network, The GENICA, Ito, Hidemi , Iwata, Hiroji , Mannermaa, Arto , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Berg, David Van Den , Stram, Daniel O. , Rudolph, Anja , Seibold, Petra , Bonanni, Bernardo , Couch, Fergus J. , Wang, Xianshu , Vachon, Celine M. , Milne, Roger L. , Marchand, Loı̈c Le , Labrèche, France , Rudolph, Anja , Zheng, Wei , Asperen, Christi J. van , Eriksson, Mikael , Hooning, Maartje J. , Pharoah, Paul D.P. , Ahmed, Shahana , Toland, Amanda Ewart , Shen, Chen‐Yang , Tsimiklis, Helen , Schmidt, Daniel Frederick , Bui, Minh , Chanock, Stephen Jacob , Study, The Breast and Ovarian Cancer Susceptibility (BOCS), Hall, Per N , Nevanlinna, H , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Swerdlow, Anthony J , Radice, Paolo , Lissowska, Jolanta , Southey, Melissa C , van der Luijt, Rob B , Muir, Kenneth , Shu, Xiao-Ou , Matsuo, Keitaro , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Muranen, Taru A , García-Closas, Montserrat , Schmidt, Marjanka K , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Czene, Kamila , Stone, Jennifer , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Purrington, Kristen S , Truong, Therese , Wildiers, Hans , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick , Liu, Jing , Kang, Daehee
Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Siddiq, Afshan , Chen, Gary K., Lindström, Sara, Eccles, Diana , Millikan, Robert C., Michailidou, Kyriaki , Beckmann, Lars , Aittomäki, Kristiina , Apicella, Carmel, Investigators, Australian Breast Cancer Tissue Bank, Baglietto, Laura , Bandera, Elisa V. , Beckmann, Matthias W. , Berg, Christine D. , Blomqvist, Carl , Brauch, Hiltrud , Brinton, Louise A. , Bui, Minh , Buring, Julie E. , Campa, Daniele , Carpenter, Jane, Chang‐Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela , Cross, Simon S. , Czene, Kamila , Deming, Sandra L., Diasio, Robert B. , Diver, W. Ryan , Dunning, Alison M. , Durcan, Lorraine , Ekici, Arif B. , Fasching, Peter A. , Study, Familial Breast Cancer, Fejerman, Laura , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Gaudet, Mia M., Gerty, Susan M. , Rodriguez‐Gil, Jorge L. , Giles, Graham G. , Gils, Carla H. van , Graham, Nikki , Greco, Dario , Hankinson, Susan E. , Hartmann, Arndt, Hein, Rebecca, Heinz, Judith , Hoover, Robert N. , Hu, Jennifer J. , Huntsman, Scott , Irwanto, Astrid , Jacobs, Kevin B. , John, Esther M. , Justenhoven, Christina , Kolonel, Laurence N. , Coetzee, Gerhard A. , Lathrop, Mark, Lee, I‐Min , Lesnick, Timothy G. , Lichtner, Peter , Liu, Jianjun , Lund, Eiliv , Makalic, Enes , Martin, Nicholas G. , McLean, Catriona , Meijers‐Heijboer, Hanne , Meindl, Alfons , Miron, Penelope , Montgomery, Grant W. , Müller‐Myhsok, Bertram , Nickels, Stefan , Nyante, Sarah J. , Olswold, Curtis, Overvad, Kim , Palli, Domenico , Park, Daniel J. , Palmer, Julie R. , Peto, Julian , Rahman, Nazneen , Rivadeneira, Fernando , Schmutzler, Rita K. , Slager, Susan, Southey, Melissa C. , Stevens, Kristen N., Sinn, Hans‐Peter , Ross, Eric A. , Ríboli, Elio , Schumacher, Fredrick R. , Severi, Gianluca , Stone, Jennifer , Sund, Malin , Tapper, William , Thun, Michael J., Travis, Ruth C. , Turnbull, Clare , Uitterlinden, André G. , Waisfisz, Quinten , Wang, Zhaoming , Weaver, JoEllen , Schulz-Wendtland, Rüdiger, Nevanlinna, Heli , Easton, Douglas F., Hunter, David J. , Henderson, Brian E., García‐Closas, Montserrat , Kraft, Peter , Haiman, Christopher A. , Vachon, Celine M. , Zheng, Wei , Purrington, Kristen S. , Couch, Fergus J. , Stram, Daniel O. , Rhie, Suhn K. , Ambrosone, Christine B. , Amiano, Pilar , Investigators, Australian Breast Cancer Tissue Bank, Bernstein, Leslie , Bui, Minh , Buys, Saundra S. , Chasman, Daniel I. , Study, Familial Breast Cancer, Feigelson, Heather Spencer , Fletcher, Olivia , Godwin, Andrew K. , Hall, Per N , Hankinson, Susan E. , Hopper, John L. , Ingles, Sue A. , Isaacs, Claudine , Kaaks, Rudolf , Marchand, Loı̈c Le , Lee, Adam M. , Meindl, Alfons , Monroe, Kristine R. , Pathak, Harsh B. , Pharoah, Paul D.P. , Schmidt, Daniel F. , Press, Michael F. , Ridker, Paul M. , dos‐Santos‐Silva, Isabel , Wang, Xianshu , Wilkens, Lynne R. , Berg, David Van Den , Zheng, Wei , Ziegler, Regina G. , Ziv, Elad , Chanock, Stephen Jacob , Vachon, Celine M. , Nevanlinna, H , Giles, Graham G , Eccles, Diana , John, Esther M , Palli, Domenico , Southey, Melissa C , Martin, Nicholas G , Sinn, Peter , Travis, Ruth C , Wang, Zhaoming , Dunning, Alison M , Cox, Angela , García-Closas, Montserrat , Severi, Gianluca , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Palmer, Julie R , Kraft, Peter , Zheng, Wei , Figueroa, Jonine D , Nyante, Sarah , Czene, Kamila , Stone, Jennifer , Riboli, Elio , Sund, Malin , Baglietto, Laura , Purrington, Kristen S , Mclean, Catriona , Brauch, Hiltrud , Liu, Jing , Bandera, Elisa V.
Human Molecular Genetics | September 14, 2012 | Volume: 21 | Issue: 24 | Pages: 5373-5384
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Wszolek, Z.K. , Pfeiffer, Ronald F. , Tsuboi, Yoshio , Uitti, Ryan J. , McComb, Rodney D., Strongosky, Audrey , Müller‐Myhsok, Bertram , Farrer, Matthew J. , Gasser, Thomas , Calne, Donald B., Stoessl, A. Jon , Zimprich, Alexander , Dickson, Dennis W.
Neurology | May 13, 2012 | Volume: 62 | Issue: 9 | Pages: 1619-1622