114 results on '"Pitts, Steven J."'
Search Results
2. Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders
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Yu, Dongmei, Sul, Jae Hoon, Tsetsos, Fotis, Nawaz, Muhammad S., Huang, Alden Y., Zelaya, Ivette, Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M., Hirschtritt, Matthew E., Greenberg, Erica, Muller-Vahl, Kirsten R., Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy, Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L., Grados, Marco, Singer, Harvey S., Nöthen, Markus M., Hebebrand, Johannes, Hinney, Anke, King, Robert A., Fernandez, Thomas V., Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L., Rizzo, Renata, Lyon, Gholson J., McMahon, William M., Batterson, James R., Cath, Danielle C., Malaty, Irene A., Okun, Michael S., Berlin, Cheston, Woods, Douglas W., Lee, Paul C., Jankovic, Joseph, Robertson, Mary M., Gilbert, Donald L., Brown, Lawrence W., Coffey, Barbara J., Dietrich, Andrea, Hoekstra, Pieter J., Kuperman, Samuel, Zinner, Samuel H., Luðvigsson, Pétur, Sæmundsen, Evald, Thorarensen, Ólafur, Atzmon, Gil, Barzilai, Nir, Wagner, Michael, Moessner, Rainald, Ophoff, Roel, Pato, Carlos N., Pato, Michele T., Knowles, James A., Roffman, Joshua L., Smoller, Jordan W., Buckner, Randy L., Willsey, Jeremy A., Tischfield, Jay A., Heiman, Gary A., Stefansson, Hreinn, Stefansson, Kári, Posthuma, Danielle, Cox, Nancy J., Pauls, David L., Freimer, Nelson B., Neale, Benjamin M., Davis, Lea K., Paschou, Peristera, Coppola, Giovanni, Mathews, Carol A., Scharf, Jeremiah M., Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tung, Joyce Y., Vacic, Vladimir, Wang, Xin, Strom, Nora I., Halvorsen, Matthew W., Grove, Jakob, Ásbjörnsdóttir, Bergrún, Luðvígsson, Pétur, de Schipper, Elles, Bäckmann, Julia, Andrén, Per, Tian, Chao, Als, Thomas Damm, Nissen, Judith Becker, Meier, Sandra M., Bybjerg-Grauholm, Jonas, Hougaard, David M., Werge, Thomas, Børglum, Anders D., Hinds, David A., Rück, Christian, Mataix-Cols, David, Stefánsson, Hreinn, Stefansson, Kari, Crowley, James J., and Mattheisen, Manuel
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- 2024
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3. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
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Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blauwendraat, Cornelis, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Faghri, Faraz, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Iwaki, Hirotaka, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Krohn, Lynne, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Martínez Torres, Irene, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Nalls, Mike A, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizig, Mie, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Rouleau, Guy A, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Van Keuren-Jensen, Kendall, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., von Coelln, Rainer, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao, Vallerga, Costanza L, Heilbron, Karl, Chang, Diana, Tan, Manuela, Young, Emily, Pihlstrøm, Lasse, Leonard, Hampton, Botia, Juan A, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Andreassen, Ole A, Bangale, Tushar, Hinds, David A, Hardy, John A, Visscher, Peter M, and Graham, Robert R
- Published
- 2019
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4. Effect of genome and environment on metabolic and inflammatory profiles.
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Sirota, Marina, Willemsen, Gonneke, Sundar, Purnima, Pitts, Steven J, Potluri, Shobha, Prifti, Edi, Kennedy, Sean, Ehrlich, S Dusko, Neuteboom, Jacoline, Kluft, Cornelis, Malone, Karen E, Cox, David R, de Geus, Eco JC, and Boomsma, Dorret I
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Humans ,Inflammation ,Hematologic Tests ,Cluster Analysis ,Environment ,Housing ,Twins ,Monozygotic ,Phenotype ,Genome ,Human ,Adult ,Female ,Male ,Genome ,Human ,Twins ,Monozygotic ,General Science & Technology - Abstract
Twin and family studies have established the contribution of genetic factors to variation in metabolic, hematologic and immunological parameters. The majority of these studies analyzed single or combined traits into pre-defined syndromes. In the present study, we explore an alternative multivariate approach in which a broad range of metabolic, hematologic, and immunological traits are analyzed simultaneously to determine the resemblance of monozygotic (MZ) twin pairs, twin-spouse pairs and unrelated, non-cohabiting individuals. A total of 517 participants from the Netherlands Twin Register, including 210 MZ twin pairs and 64 twin-spouse pairs, took part in the study. Data were collected on body composition, blood pressure, heart rate, and multiple biomarkers assessed in fasting blood samples, including lipid levels, glucose, insulin, liver enzymes, hematological measurements and cytokine levels. For all 51 measured traits, pair-wise Pearson correlations, correcting for family relatedness, were calculated across all the individuals in the cohort. Hierarchical clustering techniques were applied to group the measured traits into sub-clusters based on similarity. Sub-clusters were observed among metabolic traits and among inflammatory markers. We defined a phenotypic profile as the collection of all the traits measured for a given individual. Average within-pair similarity of phenotypic profiles was determined for the groups of MZ twin pairs, spouse pairs and pairs of unrelated individuals. The average similarity across the full phenotypic profile was higher for MZ twin pairs than for spouse pairs, and lowest for pairs of unrelated individuals. Cohabiting MZ twins were more similar in their phenotypic profile compared to MZ twins who no longer lived together. The correspondence in the phenotypic profile is therefore determined to a large degree by familial, mostly genetic, factors, while household factors contribute to a lesser degree to profile similarity.
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- 2015
5. Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank
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Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Hassan Kiadeh, Farnush Farhadi, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E.J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Barbu, Miruna C., Zeng, Yanni, Shen, Xueyi, Cox, Simon R., Gibson, Jude, Johnstone, Mandy, Haley, Chris S., Lawrie, Stephen M., and Whalley, Heather C.
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- 2019
- Full Text
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6. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
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Okbay, Aysu, Wu, Yeda, Wang, Nancy, Jayashankar, Hariharan, Bennett, Michael, Nehzati, Seyed Moeen, Sidorenko, Julia, Kweon, Hyeokmoon, Goldman, Grant, Gjorgjieva, Tamara, Jiang, Yunxuan, Hicks, Barry, Tian, Chao, Hinds, David A., Ahlskog, Rafael, Magnusson, Patrik K. E., Oskarsson, Sven, Hayward, Caroline, Campbell, Archie, Porteous, David J., Freese, Jeremy, Herd, Pamela, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Fontana, Mark Alan, Pers, Tune H., Rietveld, Cornelius A., Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., Pourcain, Beate St, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., Kähönen, Mika, Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., Völker, Uwe, Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Boomsma, Dorret I., Borecki, Ingrid B., Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtimäki, Terho, Lehrer, Steven F., Martin, Nicholas G., McGue, Matt, Metspalu, Andres, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Markus, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Yang, Jian, Esko, Tõnu, Watson, Chelsea, Jala, Jonathan, Conley, Dalton, Koellinger, Philipp D., Johannesson, Magnus, Laibson, David, Meyer, Michelle N., Lee, James J., Kong, Augustine, Yengo, Loic, Cesarini, David, Turley, Patrick, Visscher, Peter M., Beauchamp, Jonathan P., Benjamin, Daniel J., Young, Alexander I., Economics, Tinbergen Institute, Amsterdam Neuroscience - Complex Trait Genetics, 23andMe Research Team [Member of the MPIB: Tian Liu], Social Science Genetic Association Consortium, Okbay, Aysu, Wu, Yeda, Wang, Nancy, Jayashankar, Hariharan, Bennett, Michael, Moeen Nehzati, Seyed, Sidorenko, Julia, Kweon, Hyeokmoon, Goldman, Grant, Gjorgjieva, Tamara, Jiang, Yunxuan, Hicks, Barry, Tian, Chao, Hinds, David A., Ahlskog, Rafael, Magnusson, Patrik K. E., Oskarsson, Sven, Hayward, Caroline, Campbell, Archie, Porteous, David J., Freese, Jeremy, Herd, Pamela, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., Mccreight, Jennifer C., Mcintyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Fah Sathirapongsasuti, J., Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Alan Fontana, Mark, Pers, Tune H., Rietveld, Cornelius A., Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jona, Baumbach, Clemen, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, MARIA PINA, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, B??rge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, B??nnelykke, Klau, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Pano, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halld??rsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., K??h??nen, Mika, Kanoni, Stavroula, Keltigangas-J??rvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Ma??l P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., M??gi, Reedik, M??ki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., Mcmahon, George, Meisinger, Christa, Meitinger, Thoma, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., R??ikk??nen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., V??lker, Uwe, V??lzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johanne, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klau, Bertram, Lar, Bisgaard, Han, Boomsma, Dorret I., Borecki, Ingrid B., B??ltmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-J??rgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hoffmann, Wolfgang, Hypp??nen, Elina, Iacono, William G., Jacobsson, Bo, J??rvelin, Marjo-Riitta, J??ckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtim??ki, Terho, Lehrer, Steven F., Martin, Nicholas G., Mcgue, Matt, Metspalu, Andre, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Marku, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, S??rensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Roy Thurik, A., Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, Andr?? G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Davey Smith, George, Hofman, Albert, Laibson, David I., Medland, Sarah E., Yang, Jian, Esko, T??nu, Watson, Chelsea, Jala, Jonathan, Conley, Dalton, Koellinger, Philipp D., Johannesson, Magnu, Laibson, David, Meyer, Michelle N., Lee, James J., Kong, Augustine, Yengo, Loic, Cesarini, David, Turley, Patrick, Visscher, Peter M., Beauchamp, Jonathan P., Benjamin, Daniel J., Young, Alexander I., VU University medical center, Psychiatry, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Human genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, APH - Mental Health, APH - Digital Health, Schmidt, Börge (Beitragende*r), Eisele, Lewin (Beitragende*r), Jöckel, Karl-Heinz (Beitragende*r), Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Groningen Research Institute for Asthma and COPD (GRIAC), Public Health Research (PHR), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Cardiovascular Centre (CVC), Adult Psychiatry, Applied Economics, Epidemiology, Cell biology, Econometrics, Erasmus School of Economics, Child and Adolescent Psychiatry / Psychology, Internal Medicine, Department of Public Health, Institute for Molecular Medicine Finland, Department of Psychology and Logopedics, Doctoral Programme in Human Behaviour, Doctoral Programme in Cognition, Learning, Instruction and Communication, Department of Diagnostics and Therapeutics, Doctoral Programme Brain & Mind, Doctoral Programme in Population Health, HUSLAB, Research Programs Unit, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Doctoral Programme in Integrative Life Science, Doctoral Programme in Clinical Research, Department of General Practice and Primary Health Care, Johan Eriksson / Principal Investigator, Doctoral Programme in Oral Sciences, Clinicum, and Doctoral Programme in Biomedicine
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Multifactorial Inheritance ,Medizin ,HUMAN COMPLEX TRAITS ,COHORT PROFILE ,BIOBANK ,GENETICS ,MODELS ,HEALTH ,LOCI ,GWAS ,Polymorphism, Single Nucleotide/genetics ,genome-wide-significant single-nucleotide polymorphisms (SNPs) ,Polymorphism, Single Nucleotide ,educational attainment ,Genetics ,Humans ,3111 Biomedicine ,ddc:610 ,Medical Genetics ,Multifactorial Inheritance/genetics ,Medicinsk genetik ,Genome-Wide Association Study - Abstract
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of similar to 3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57. Karl-Oskar Lindgren ingår i gruppen Social Science Genetic Association Consortium
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- 2022
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7. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders
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Eijsbouts, Chris, Zheng, Tenghao, Kennedy, Nicholas A., Bonfiglio, Ferdinando, Anderson, Carl A., Moutsianas, Loukas, Holliday, Joanne, Shi, Jingchunzi, Shringarpure, Suyash, Voda, Alexandru-Ioan, Farrugia, Gianrico, Franke, Andre, H��benthal, Matthias, Abecasis, Gon��alo, Zawistowski, Matthew, Skogholt, Anne Heidi, Ness-Jensen, Eivind, Hveem, Kristian, Esko, T��nu, Teder-Laving, Maris, Zhernakova, Alexandra, Camilleri, Michael, Boeckxstaens, Guy, Whorwell, Peter J., Spiller, Robin, McVean, Gil, D���Amato, Mauro, Jostins, Luke, Parkes, Miles, Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., Luff, Marie K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O���Connell, Jared, Petrakovitz, Aaron A., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shastri, Anjali J., Shelton, Janie F., Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, Zare, Amir S., Kashyap, Purna, Chang, Lin, Mayer, Emeran, Heitkemper, Margaret, Sayuk, Gregory S., Ringel-Kulka, Tamar, Ringel, Yehuda, Chey, William D., Eswaran, Shanti, Merchant, Juanita L., Shulman, Robert J., Bujanda, Luis, Garcia-Etxebarria, Koldo, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontus, Ohlsson, Bodil, Walter, Susanna, Faresj��, ��shild O., Simren, Magnus, Halfvarson, Jonas, Portincasa, Piero, Barbara, Giovanni, Usai-Satta, Paolo, Neri, Matteo, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Bellini, Massimo, Latiano, Anna, Houghton, Lesley, Jonkers, Daisy, Kurilshikov, Alexander, Weersma, Rinse K., Netea, Mihai, Tesarz, Jonas, Gauss, Annika, Goebel-Stengel, Miriam, Andresen, Viola, Frieling, Thomas, Pehl, Christian, Schaefert, Rainer, Niesler, Beate, Lieb, Wolfgang, Hanevik, Kurt, Langeland, Nina, Wensaas, Knut-Arne, Litleskare, Sverre, Gabrielsen, Maiken E., Thomas, Laurent, Thijs, Vincent, Lemmens, Robin, Van Oudenhove, Lukas, Wouters, Mira, Eijsbouts C., Zheng T., Kennedy N.A., Bonfiglio F., Anderson C.A., Moutsianas L., Holliday J., Shi J., Shringarpure S., Agee M., Aslibekyan S., Auton A., Bell R.K., Bryc K., Clark S.K., Elson S.L., Fletez-Brant K., Fontanillas P., Furlotte N.A., Gandhi P.M., Heilbron K., Hicks B., Hinds D.A., Huber K.E., Jewett E.M., Jiang Y., Kleinman A., Lin K.-H., Litterman N.K., Luff M.K., McCreight J.C., McIntyre M.H., McManus K.F., Mountain J.L., Mozaffari S.V., Nandakumar P., Noblin E.S., Northover C.A.M., O'Connell J., Petrakovitz A.A., Pitts S.J., Poznik G.D., Sathirapongsasuti J.F., Shastri A.J., Shelton J.F., Tian C., Tung J.Y., Tunney R.J., Vacic V., Wang X., Zare A.S., Voda A.-I., Kashyap P., Chang L., Mayer E., Heitkemper M., Sayuk G.S., Ringel-Kulka T., Ringel Y., Chey W.D., Eswaran S., Merchant J.L., Shulman R.J., Bujanda L., Garcia-Etxebarria K., Dlugosz A., Lindberg G., Schmidt P.T., Karling P., Ohlsson B., Walter S., Faresjo A.O., Simren M., Halfvarson J., Portincasa P., Barbara G., Usai-Satta P., Neri M., Nardone G., Cuomo R., Galeazzi F., Bellini M., Latiano A., Houghton L., Jonkers D., Kurilshikov A., Weersma R.K., Netea M., Tesarz J., Gauss A., Goebel-Stengel M., Andresen V., Frieling T., Pehl C., Schaefert R., Niesler B., Lieb W., Hanevik K., Langeland N., Wensaas K.-A., Litleskare S., Gabrielsen M.E., Thomas L., Thijs V., Lemmens R., Van Oudenhove L., Wouters M., Farrugia G., Franke A., Hubenthal M., Abecasis G., Zawistowski M., Skogholt A.H., Ness-Jensen E., Hveem K., Esko T., Teder-Laving M., Zhernakova A., Camilleri M., Boeckxstaens G., Whorwell P.J., Spiller R., McVean G., D'Amato M., Jostins L., Parkes M., Eijsbouts, Chris [0000-0001-5179-0653], Anderson, Carl A. [0000-0003-1719-7009], Moutsianas, Loukas [0000-0001-5453-345X], Holliday, Joanne [0000-0003-4568-7320], Shringarpure, Suyash [0000-0001-6464-2668], Voda, Alexandru-Ioan [0000-0003-2974-6992], Farrugia, Gianrico [0000-0003-3473-5235], Hübenthal, Matthias [0000-0002-5956-3006], Abecasis, Gonçalo [0000-0003-1509-1825], Zawistowski, Matthew [0000-0002-3005-083X], Ness-Jensen, Eivind [0000-0001-6005-0729], Teder-Laving, Maris [0000-0002-5872-1850], Camilleri, Michael [0000-0001-6472-7514], Whorwell, Peter J. [0000-0002-5220-8474], Spiller, Robin [0000-0001-6371-4500], McVean, Gil [0000-0002-5012-4162], D’Amato, Mauro [0000-0003-2743-5197], Jostins, Luke [0000-0002-2475-3969], Parkes, Miles [0000-0002-6467-0631], Apollo - University of Cambridge Repository, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Eijsbouts, C., Zheng, T., Kennedy, N. A., Bonfiglio, F., Anderson, C. A., Moutsianas, L., Holliday, J., Shi, J., Shringarpure, S., Agee, M., Aslibekyan, S., Auton, A., Bell, R. K., Bryc, K., Clark, S. K., Elson, S. L., Fletez-Brant, K., Fontanillas, P., Furlotte, N. A., Gandhi, P. M., Heilbron, K., Hicks, B., Hinds, D. A., Huber, K. E., Jewett, E. M., Jiang, Y., Kleinman, A., Lin, K. -H., Litterman, N. K., Luff, M. K., Mccreight, J. C., Mcintyre, M. H., Mcmanus, K. F., Mountain, J. L., Mozaffari, S. V., Nandakumar, P., Noblin, E. S., Northover, C. A. M., O'Connell, J., Petrakovitz, A. A., Pitts, S. J., Poznik, G. D., Sathirapongsasuti, J. F., Shastri, A. J., Shelton, J. F., Tian, C., Tung, J. Y., Tunney, R. J., Vacic, V., Wang, X., Zare, A. S., Voda, A. -I., Kashyap, P., Chang, L., Mayer, E., Heitkemper, M., Sayuk, G. S., Ringel-Kulka, T., Ringel, Y., Chey, W. D., Eswaran, S., Merchant, J. L., Shulman, R. J., Bujanda, L., Garcia-Etxebarria, K., Dlugosz, A., Lindberg, G., Schmidt, P. T., Karling, P., Ohlsson, B., Walter, S., Faresjo, A. O., Simren, M., Halfvarson, J., Portincasa, P., Barbara, G., Usai-Satta, P., Neri, M., Nardone, G., Cuomo, R., Galeazzi, F., Bellini, M., Latiano, A., Houghton, L., Jonkers, D., Kurilshikov, A., Weersma, R. K., Netea, M., Tesarz, J., Gauss, A., Goebel-Stengel, M., Andresen, V., Frieling, T., Pehl, C., Schaefert, R., Niesler, B., Lieb, W., Hanevik, K., Langeland, N., Wensaas, K. -A., Litleskare, S., Gabrielsen, M. E., Thomas, L., Thijs, V., Lemmens, R., Van Oudenhove, L., Wouters, M., Farrugia, G., Franke, A., Hubenthal, M., Abecasis, G., Zawistowski, M., Skogholt, A. H., Ness-Jensen, E., Hveem, K., Esko, T., Teder-Laving, M., Zhernakova, A., Camilleri, M., Boeckxstaens, G., Whorwell, P. J., Spiller, R., Mcvean, G., D'Amato, M., Jostins, L., and Parkes, M.
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Male ,Molecular Chaperone ,Mood Disorder ,631/208/205/2138 ,Biology ,692/699/1503/1502/2071 ,Bioinformatics ,Polymorphism, Single Nucleotide ,Genetic pathways ,38/43 ,Irritable Bowel Syndrome ,Cytoskeletal Protein ,Genetics ,medicine ,Genetic predisposition ,Aged ,Anxiety Disorders ,CD56 Antigen ,Cell Adhesion Molecules ,Cytoskeletal Proteins ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Guanine Nucleotide Exchange Factors ,Homeodomain Proteins ,Humans ,Middle Aged ,Molecular Chaperones ,Mood Disorders ,United Kingdom ,Polymorphism ,692/699/476 ,Irritable bowel syndrome ,Depression (differential diagnoses) ,article ,Homeodomain Protein ,Single Nucleotide ,Guanine Nucleotide Exchange Factor ,medicine.disease ,Neuroticism ,Biobank ,Mood ,Cell Adhesion Molecule ,Anxiety ,medicine.symptom ,Anxiety Disorder ,Human - Abstract
Funder: Kennedy Trust Rheumatology Research Prize Studentship, Funder: DFG Cluster of Excellence ���Precision Medicine in Chronic In-flammation��� (PMI; ID: EXC2167), Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: ���Ideas��� Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): 715772, Funder: NWO-VIDI grant 016.178.056, the Netherlands Heart Foundation CVON grant 2018-27, and NWO Gravitation grant ExposomeNL, Funder: Li Ka Shing Foundation (Li Ka Shing Foundation Limited); doi: https://doi.org/10.13039/100007421, Irritable bowel syndrome (IBS) results from disordered brain���gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain���gut interactions underlying IBS.
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- 2021
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8. Genome-wide association study of musical beat synchronization demonstrates high polygenicity
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Niarchou, Maria, Gustavson, Daniel E., Sathirapongsasuti, J. Fah, Anglada-Tort, Manuel, Eising, Else, Bell, Eamonn, McArthur, Evonne, Straub, Peter, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O’Connell, Jared, Pitts, Steven J., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, McAuley, J. Devin, Capra, John A., Ullén, Fredrik, Creanza, Nicole, Mosing, Miriam A., Hinds, David A., Davis, Lea K., Jacoby, Nori, Gordon, Reyna L., and The 23andMe Research Team
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Multifactorial Inheritance ,Behavioral Neuroscience ,Social Psychology ,Nucleotides ,Humans ,Experimental and Cognitive Psychology ,Polymorphism, Single Nucleotide ,Music ,Genome-Wide Association Study - Abstract
Moving in synchrony to the beat is a fundamental component of musicality. Here, we conducted a genome-wide association study (GWAS) to identify common genetic variants associated with beat synchronization in 606,825 individuals. Beat synchronization exhibited a highly polygenic architecture, with sixty-nine loci reaching genome-wide significance (p
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- 2022
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9. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
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Karlsson Linnér, Richard, Biroli, Pietro, Kong, Edward, Meddens, S. Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Maël, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, Vlaming, Ronald de, Zünd, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntané, Gerard, Sanchez-Roige, Sandra, Rooij, Frank J. van, Taskesen, Erdogan, Yang, Wu, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., Mccreight, Jennifer C., Mcintyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimäki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Müller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rüeger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppälä, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bram t, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tönjes, Anke, Dongen, Jenny van, Meurs, Joyce van, Verlouw, Joost, Visscher, Peter M., Völker, Uwe, Võsa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Beauchamp, Jonathan P., Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, Lee, Sven J. van der, de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., Most, Peter J. van der, Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., Pourcain, Beate St, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Mcmahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B, Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., Duijn, Cornelia M. van, Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, Harst, Pim van der, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Harris, Kathleen Mullan, Hasler, Gregor, Ikram, Mohammad A., Jain, Sonia, Kessler, Ronald C., Kooyman, Maarten, Mackillop, James, Männikkö, Minna, Morcillo-Suarez, Carlos, Mcqueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, Wit, Harriet de, Fehr, Ernst, Kumari, Meena, Laibson, David, Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Adult Psychiatry, APH - Mental Health, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Digital Health, 23and Me Research Team, eQTLgen Consortium, International Cannabis Consortium, Economics, Biological Psychology, Complex Trait Genetics, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Tinbergen Institute, 23andme Research Team, Psychiatric Genomics Consortium, Social Science Genetic Association Consortium, Linner Richard Karlsson, Biroli P, Kong Edward, Meddens Fleur W., Wedow Robbee, Fontana Mark Alan, Lebreton Mael, Tino Stephen P., Abdellaoui Abdel, Hammerschlag Anke R., Nivard Michel G., Okbay Aysu, Rietveld Cornelius A., Timshel Pascal N., Trzaskowski Maciej, de Vlaming Ronald, Zund Christian L., Bao Yanchun, Buzdugan Laura, Caplin Ann H., Chen Chia-Yen, Eibich Peter, Fontanillas Pierre, Gonzalez Juan R., Joshi Peter K., Karhunen Ville, Kleinman Aaron, Levin Remy Z., Lill Christina M., Meddens Gerardus A., Muntane Gerard, Sanchez-Roige Sandra, van Rooij Frank J., Taskesen Erdogan, Wu Yang, Zhang Futao, Agee Michelle, Alipanahi Babak, Bell Robert K., Bryc Katarzyna, Elson Sarah L., Furlotte Nicholas A., Huber Karen E., Litterman Nadia K., McCreight Jennifer C., McIntyre Matthew H., Mountain Joanna L., Northover Carrie A. M., Pitts Steven J., Sathirapongsasuti J. Fah, Sazonova Olga V., Shelton Janie F., Shringarpure Suyash, Tian Chao, Tung Joyce Y., Vacic Vladimir, Wilson Catherine H., Agbessi Mawusse, Ahsan Habibul, Alves Isabel, Andiappan Anand, Awadalla Philip, Battle Alexi, Beutner Frank, Bonder Marc Jan, Boomsma Dorret I., Christiansen Mark, Claringbould Annique, Deelen Patrick, Esko Tonu, Fave Marie-Julie, Franke Lude, Frayling Timothy, Gharib Sina A., Gibson Gregory, Heijmans Bastiaan, Hemani Gibran, Jansen Rick, Kahonen Mika, Kalnapenkis Anette, Kasela Silva, Kettunen Johanne, Kim Yungil, Kirsten Holger, Kovacs Peter, Krohn Knut, Kronberg-Guzman Jaanika, Kukushkina Viktorija, Kutalik Zoltan, Lee Bernett, Lehtimaki Terho, Loeffler Marku, Marigorta Urko M., Metspalu Andre, Milani Lili, Montgomery Grant W., Mueller-Nurasyid Martina, Nauck Matthia, Penninx Brenda, Perola Marku, Pervjakova Natalia, Pierce Brandon, Powell Joseph, Prokisch Holger, Psaty Bruce M., Raitakari Olli, Ring Susan, Ripatti Samuli, Rotzchke Olaf, Rueger Sina, Saha Ashi, Scholz Marku, Schramm Katharina, Seppala Ilkka, Stumvoll Michael, Sullivan Patrick, Hoen Peter-Bramt, Teumer Alexander, Thiery Joachim, Tong Lin, Tonjes Anke, van Dongen Jenny, van Meurs Joyce, Verlouw Joost, Visscher Peter M., Voelker Uwe, Vosa Urmo, Westra Harm-Jan, Yaghootkar Hanieh, Yang Jian, Zeng Biao, Lee James J., Pers Tune H., Turley Patrick, Chen Guo-Bo, Emilsson Valur, Oskarsson Sven, Pickrell Joseph K., Thom Kevin, Timshel Pascal, Ahluwalia Tarunveer S., Bacelis Jona, Baumbach Clemen, Bjornsdottir Gyda, Brandsma Johannes H., Concas Maria Pina, Derringer Jaime, Galesloot Tessel E., Girotto Giorgia, Gupta Richa, Hall Leanne M., Harris Sarah E., Hofer Edith, Horikoshi Momoko, Huffman Jennifer E., Kaasik Kadri, Kalafati Ioanna P., Kong Augustine, Lahti Jari, van der Lee Sven J., de Leeuw Christiaan, Lind Penelope A., Lindgren Karl-Oskar, Liu Tian, Mangino Massimo, Marten Jonathan, Mihailov Evelin, Miller Michael B., van der Most Peter J., Oldmeadow Christopher, Payton Antony, Peyrot Wouter J., Qian Yong, Rueedi Rico, Salvi Erika, Schmidt Boerge, Schraut Katharina E., Shi Jianxin, Smith Albert V., Poot Raymond A., St Pourcain Beate, Thorleifsson Gudmar, Verweij Niek, Vuckovic Dragana, Wellmann Juergen, Yang Jingyun, Zhao Wei, Zhu Zhihong, Alizadeh Behrooz Z., Amin Najaf, Bakshi Andrew, Baumeister Sebastian E., Biino Ginevra, Bonnelykke Klau, Boyle Patricia A., Campbell Harry, Cappuccio Francesco P., Davies Gail, De Neve Jan-Emmanuel, Deloukas Pano, Demuth Ilja, Ding Jun, Eisele Lewin, Eklund Niina, Evans David M., Faul Jessica D., Feitosa Mary F., Forstner Andreas J., Gandin Ilaria, Gunnarsson Bjarni, Halldorsson Bjarni V., Harris Tamara B., Heath Andrew C., Hocking Lynne J., Holliday Elizabeth G., Homuth Georg, Horan Michael A., Hottenga Jouke-Jan, de Jager Philip L., Jugessur Astanand, Kaakinen Marika A., Kanoni Stavroula, Keltigangas-Jarvinen Liisa, Kiemeney Lambertus A. L. M., Kolcic Ivana, Koskinen Seppo, Kraja Aldi T., Kroh Martin, Latvala Antti, Launer Lenore J., Lebreton Mael P., Levinson Douglas F., Lichtenstein Paul, Lichtner Peter, Liewald David C. M., Loukola Anu, Madden Pamela A., Magi Reedik, Maki-Opas Tomi, Marioni Riccardo E., Marques-Vidal Pedro, McMahon George, Meisinger Christa, Meitinger Thoma, Milaneschi Yusplitri, Myhre Ronny, Nelson Christopher P., Nyholt Dale R., Ollier William E. R., Palotie Aarno, Paternoster Lavinia, Pedersen Nancy L., Petrovic Katja E., Porteous David J., Raikkonen Katri, Ring Susan M., Robino Antonietta, Rostapshova Olga, Rudan Igor, Rustichini Aldo, Salomaa Veikko, Sanders Alan R., Sarin Antti-Pekka, Schmidt Helena, Scott Rodney J., Smith Blair H., Smith Jennifer A., Staessen Jan A., Steinhagen-Thiessen Elisabeth, Strauch Konstantin, Terracciano Antonio, Tobin Martin D., Ulivi Sheila, Vaccargiu Simona, Quaye Lydia, Venturini Cristina, Vinkhuyzen Anna A. E., Voelzke Henry, Vonk Judith M., Vozzi Diego, Waage Johanne, Ware Erin B., Willemsen Gonneke, Attia John R., Bennett David A., Berger Klau, Bertram Lar, Bisgaard Han, Borecki Ingrid B., Bultmann Ute, Chabris Christopher F., Cucca Francesco, Cusi Daniele, Deary J., Dedoussis George V., van Duijn Cornelia M., Eriksson Johan G., Franke Barbara, Gasparini Paolo, Gejman Pablo V., Gieger Christian, Grabe Hans-Joergen, Gratten Jacob, Gudnason Vilmundur, van der Harst Pim, Hayward Caroline, Hinds David A., Hoffmann Wolfgang, Hypponen Elina, Iacono William G., Jacobsson Bo, Jarvelin Marjo-Riitta, Jockel Karl-Heinz, Kaprio Jaakko, Kardia Sharon L. R., Lehrer Steven F., Magnusson Patrik K. E., Martin Nicholas G., McGue Matt, Pendleton Neil, Pirastu Nicola, Pirastu Mario, Polasek Ozren, Posthuma Danielle, Power Christine, Province Michael A., Samani Nilesh J., Schlessinger David, Schmidt Reinhold, Sorensen Thorkild I. A., Spector Tim D., Stefansson Kari, Thorsteinsdottir Unnur, Thurik A. Roy, Timpson Nicholas J., Tiemeier Henning, Uitterlinden Andre G., Vitart Veronique, Vollenweider Peter, Weir David R., Wilson James F., Wright Alan F., Conley Dalton C., Krueger Robert F., Smith George Davey, Laibson David I., Medland Sarah E., Johannesson Magnu, Koellinger Philipp D., Cesarini David, Benjamin Daniel J., Auton Adam, Boardman Jason D., Clark David W., Conlin Andrew, Dolan Conor C., Fischbacher Ur, Groenen Patrick J. F., Harris Kathleen Mullan, Hasler Gregor, Hofman Albert, Ikram Mohammad A., Jain Sonia, Karlsson Robert, Kessler Ronald C., Kooyman Maarten, MacKillop Jame, Mannikko Minna, Morcillo-Suarez Carlo, McQueen Matthew B., Schmidt Klaus M., Smart Melissa C., Sutter Matthia, White Jon, de Wit Harriet, Fehr Ernst, Kumari Meena, Laibson David, Meyer Michelle N., Navarro Arcadi, Palmer Abraham A., Schunk Daniel, Stein Murray B., Svento Rauli, Timmers Paul R. H. J., Ursano Robert J., Wagner Gert G., Beauchamp Jonathan P., Karlsson Linnér, Richard, Biroli, Pietro, Kong, Edward, Meddens, S. Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Maël, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, Vlaming, Ronald de, Zünd, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntané, Gerard, Sanchez-Roige, Sandra, Rooij, Frank J. van, Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., Mccreight, Jennifer C., Mcintyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexi, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johanne, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimäki, Terho, Loeffler, Marku, Marigorta, Urko M., Metspalu, Andre, Milani, Lili, Montgomery, Grant W., Müller-Nurasyid, Martina, Nauck, Matthia, Penninx, Brenda, Perola, Marku, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rüeger, Sina, Saha, Ashi, Scholz, Marku, Schramm, Katharina, Seppälä, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bram t, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tönjes, Anke, Dongen, Jenny van, Meurs, Joyce van, Verlouw, Joost, Visscher, Peter M., Völker, Uwe, Võsa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Beauchamp, Jonathan P., Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Ahluwalia, Tarunveer S., Bacelis, Jona, Baumbach, Clemen, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, Lee, Sven J. van der, de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., Most, Peter J. van der, Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., Pourcain, Beate St, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klau, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Pano, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Mcmahon, George, Meisinger, Christa, Meitinger, Thoma, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johanne, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klau, Bertram, Lar, Bisgaard, Han, Borecki, Ingrid B, Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., Duijn, Cornelia M. van, Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, Harst, Pim van der, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Johannesson, Magnu, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Ur, Harris, Kathleen Mullan, Hasler, Gregor, Ikram, Mohammad A., Jain, Sonia, Kessler, Ronald C., Kooyman, Maarten, Mackillop, Jame, Männikkö, Minna, Morcillo-Suarez, Carlo, Mcqueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthia, White, Jon, Wit, Harriet de, Fehr, Ernst, Kumari, Meena, Laibson, David, Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Applied Economics, Hematology, Epidemiology, Urology, Department of Marketing Management, Internal Medicine, Medical Informatics, Cell biology, Erasmus MC other, Molecular Genetics, Econometrics, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, Epidemiologie, RS: CARIM - R3.02 - Hypertension and target organ damage, RS: Carim - V02 Hypertension and target organ damage, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Research Institute for Asthma and COPD (GRIAC), Public Health Research (PHR), Cardiovascular Centre (CVC), Life Course Epidemiology (LCE), Stem Cell Aging Leukemia and Lymphoma (SALL), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Linnér, Richard Karlsson, Biroli , Pietro, Meddens, S Fleur W, and Beauchamp, Jonathan P
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Netherlands Twin Register (NTR) ,Male ,LD ,Medizin ,Poison control ,Genome-wide association study ,DETERMINANTS ,Cathie Marsh Institute ,PREFERENCES ,Q1 ,Genome-wide association studies ,HV ,0302 clinical medicine ,Genetics, Behavioral/methods ,GWAS ,Genetics & Heredity ,Genetics ,0303 health sciences ,PERSONALITY ,Genetic Predisposition to Disease/genetics ,Behavior/physiology ,Polymorphism, Single Nucleotide/genetics ,3. Good health ,Manchester Institute for Collaborative Research on Ageing ,Meta-analysis ,Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] ,Genetic Loci/genetics ,Behavioural genetics ,Genome-Wide Association Study/methods ,Medical genetics ,Female ,Life Sciences & Biomedicine ,Single Nucleotide/genetics ,medicine.medical_specialty ,ResearchInstitutes_Networks_Beacons/MICRA ,Genotype ,Single-nucleotide polymorphism ,Genetics, Behavioral ,Biology ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,SDG 3 - Good Health and Well-being ,ddc:330 ,medicine ,GENDER-DIFFERENCES ,SNP ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,behavioural genetics ,Behavioral/methods ,030304 developmental biology ,Genetic association ,Behavior ,Science & Technology ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Data Science ,Case-control study ,risk tolerance, GWAS, genetic architechture ,Genetic Loci ,Case-Control Studies ,genome-wide association studies ,ResearchInstitutes_Networks_Beacons/cathie_marsh_institute ,Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19] ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated ([Formula: see text] ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance. This research was carried out under the auspices of the Social Science Genetic Association Consortium. The research was also conducted using the UK Biobank Resource under application number 11425. The study was supported by funding from the Ragnar Söderberg Foundation (E9/11 and E42/15); the Swedish Research Council (421-2013-1061); the Jan Wallander and Tom Hedelius Foundation; an ERC Consolidator Grant to Philipp Koellinger (647648 EdGe); the Pershing Square Fund of the Foundations of Human Behavior; the Open Philanthropy Project; the National Institute on Aging, National Institutes of Health through grants P01-AG005842, P01-AG005842-20S2, P30-AG012810, and T32-AG000186-23 to the National Bureau of Economic Research and R01-AG042568-02 to the University of Southern California; the government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-152); and the Social Sciences and Humanities Research Council of Canada. We thank the International Cannabis Consortium, the eQTLgen Consortium, and the Psychiatric Genomics Consortium for sharing summary statistics from the GWAS of lifetime cannabis use, eQTL summary statistics, and summary statistics from the GWAS of ADHD, respectively. A full list of acknowledgments is provided in the Supplementary Note.
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- 2019
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10. Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways
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Jansen, Philip R., Watanabe, Kyoko, Stringer, Sven, Skene, Nathan, Bryois, Julien, Hammerschlag, Anke R., de Leeuw, Christiaan A., Benjamins, Jeroen S., Muñoz-Manchado, Ana B., Nagel, Mats, Savage, Jeanne E., Tiemeier, Henning, White, Tonya, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Wilson, Catherine H., Tung, Joyce Y., Vacic, Vladimir, Wang, Xin, Sullivan, Patrick F., van der Sluis, Sophie, Polderman, Tinca J. C., Smit, August B., Hjerling-Leffler, Jens, van Someren, Eus J. W., Posthuma, Danielle, Netherlands Institute for Neuroscience (NIN), Academic Medical Center, Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Integrative Neurophysiology, Human genetics, APH - Mental Health, Psychiatry, Amsterdam Reproduction & Development (AR&D), APH - Aging & Later Life, and Child and Adolescent Psychiatry / Psychology
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Male ,Cell type ,Quantitative Trait Loci ,Disease ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,SDG 3 - Good Health and Well-being ,Sleep Initiation and Maintenance Disorders ,Mendelian randomization ,Genetics ,Humans ,Genetic Predisposition to Disease ,Gene ,030304 developmental biology ,Genetic association ,0303 health sciences ,Middle Aged ,Heritability ,Phenotype ,Chromatin ,3. Good health ,Expression quantitative trait loci ,Female ,Sleep ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Insomnia is the second most prevalent mental disorder, with no sufficient treatment available. Despite substantial heritability, insight into the associated genes and neurobiological pathways remains limited. Here, we use a large genetic association sample (n = 1,331,010) to detect novel loci and gain insight into the pathways, tissue and cell types involved in insomnia complaints. We identify 202 loci implicating 956 genes through positional, expression quantitative trait loci, and chromatin mapping. The meta-analysis explained 2.6% of the variance. We show gene set enrichments for the axonal part of neurons, cortical and subcortical tissues, and specific cell types, including striatal, hypothalamic, and claustrum neurons. We found considerable genetic correlations with psychiatric traits and sleep duration, and modest correlations with other sleep-related traits. Mendelian randomization identified the causal effects of insomnia on depression, diabetes, and cardiovascular disease, and the protective effects of educational attainment and intracranial volume. Our findings highlight key brain areas and cell types implicated in insomnia, and provide new treatment targets.
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- 2019
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11. Author Correction: Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways
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Howard, David M., Adams, Mark J., Shirali, Masoud, Clarke, Toni Kim, Marioni, Riccardo E., Davies, Gail, Coleman, Jonathan R.I., Alloza, Clara, Shen, Xueyi, Barbu, Miruna C., Wigmore, Eleanor M., Gibson, Jude, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Hagenaars, Saskia P., Lewis, Cathryn M., Ward, Joey, Smith, Daniel J., Sullivan, Patrick F., Haley, Chris S., Breen, Gerome, Deary, Ian J., and McIntosh, Andrew M.
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Science ,MEDLINE ,General Physics and Astronomy ,Genome-wide association study ,Nerve Tissue Proteins ,Computational biology ,Biology ,Mechanotransduction, Cellular ,Synaptic Transmission ,General Biochemistry, Genetics and Molecular Biology ,Linkage Disequilibrium ,Cohort Studies ,International Classification of Diseases ,Humans ,Genetic Predisposition to Disease ,Author Correction ,Depression (differential diagnoses) ,Biological Specimen Banks ,Depressive Disorder, Major ,Multidisciplinary ,Depression ,General Chemistry ,Biobank ,Phenotype ,United Kingdom ,Gene Expression Regulation ,Genetic Loci ,Synapses ,Excitatory postsynaptic potential ,Biomarkers ,Genome-Wide Association Study - Abstract
Depression is a polygenic trait that causes extensive periods of disability. Previous genetic studies have identified common risk variants which have progressively increased in number with increasing sample sizes of the respective studies. Here, we conduct a genome-wide association study in 322,580 UK Biobank participants for three depression-related phenotypes: broad depression, probable major depressive disorder (MDD), and International Classification of Diseases (ICD, version 9 or 10)-coded MDD. We identify 17 independent loci that are significantly associated (P 5 × 10
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- 2021
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12. Advancing drug discovery using the power of the human genome
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Heilbron, Karl, primary, Mozaffari, Sahar V, additional, Vacic, Vladimir, additional, Yue, Peng, additional, Wang, Wei, additional, Shi, Jingchunzi, additional, Jubb, Adrian M, additional, Pitts, Steven J, additional, and Wang, Xin, additional
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- 2021
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13. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine
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Guo, Yanjun, Rist, Pamela M., Daghlas, Iyas, Giulianini, Franco, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H.H., Lehtimäki, Terho, Sarin, Antti Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke Jan, Penninx, Brenda W.J.H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A.F., Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, Duijn, Cornelia M.van, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Ikram, M. Arfan, Spector, Tim, Järvelin, Marjo Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P., Ferrari, Michel D., Belin, Andrea C., Dichgans, Martin, Wessman, Maija, Maagdenberg, Arn M.J.M.van den, Zwart, John Anker, Boomsma, Dorret I., Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, APH - Mental Health, Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, APH - Digital Health, Radiology & Nuclear Medicine, Epidemiology, Neurology, Internal Medicine, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, APH - Methodology, Clinicum, Neurologian yksikkö, HUS Neurocenter, HUS Helsinki and Uusimaa Hospital District, Department of Neurosciences, Research Programs Unit, Institute for Molecular Medicine Finland, Neuroscience Center, STEMM - Stem Cells and Metabolism Research Program, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Biosciences, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Aarno Palotie / Principal Investigator, Helsinki University Hospital Area, University of Helsinki, Johan Eriksson / Principal Investigator, and Department of General Practice and Primary Health Care
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0301 basic medicine ,Netherlands Twin Register (NTR) ,Integrin beta Chains ,LOCI ,Medizin ,General Physics and Astronomy ,Blood Pressure ,Genome-wide association study ,Genome-wide association studies ,DISEASE ,3124 Neurology and psychiatry ,0302 clinical medicine ,HEADACHE ,Risk Factors ,Polymorphism (computer science) ,Genome-wide ,lcsh:Science ,Telomerase ,Multidisciplinary ,Mendelian Randomization Analysis ,Blóðþrýstingur ,3. Good health ,Pulse pressure ,Mígreni ,Hypertension ,Blood pressure ,Cross-phenotype ,Erfðarannsóknir ,medicine.medical_specialty ,Migraine Disorders ,Science ,Diastole ,Polymorphism, Single Nucleotide ,Article ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Meta-Analysis as Topic ,SDG 3 - Good Health and Well-being ,Receptors, Adrenergic, alpha-2 ,Internal medicine ,Mendelian randomization ,medicine ,Humans ,Genetic Predisposition to Disease ,Migraine ,business.industry ,Proteins ,General Chemistry ,medicine.disease ,Meta-analysis ,030104 developmental biology ,Endocrinology ,RISK-FACTORS ,lcsh:Q ,business ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Publisher's version (útgefin grein), Blood pressure (BP) was inconsistently associated with migraine and the mechanisms of BP-lowering medications in migraine prophylaxis are unknown. Leveraging large-scale summary statistics for migraine (Ncases/Ncontrols = 59,674/316,078) and BP (N = 757,601), we find positive genetic correlations of migraine with diastolic BP (DBP, rg = 0.11, P = 3.56 × 10−06) and systolic BP (SBP, rg = 0.06, P = 0.01), but not pulse pressure (PP, rg = −0.01, P = 0.75). Cross-trait meta-analysis reveals 14 shared loci (P ≤ 5 × 10−08), nine of which replicate (P, This research has been conducted using the UK Biobank Resource under Application Number 29273. We would like to thank the participants and researchers from the UK Biobank, 23andMe, Inc., International Headache Genetics Consortium (IHGC), MEGASTROKE, CARDIoGRAM, and International Consortium of Blood Pressure-Genome Wide Association Studies (ICBP) who contributed or collected data. Daniel I. Chasman is funded by US National Institutes of Health and US National Institute of Neurological Disorders and Stroke (R21NS09296 and R21NS104398). Pamela M. Rist is funded by K01 HL128791. The MEGASTROKE project received funding from sources specified at http://www.megastroke.org/acknowledgments.html.
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- 2020
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14. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
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Hollis, Ben, Day, Felix R., Busch, Alexander S., Thompson, Deborah J., Soares, Ana Luiza G., Timmers, Paul R. H. J., Kwong, Alex, Easton, Doug F., Joshi, Peter K., Timpson, Nicholas J., Ong, Ken K., Perry, John R. B., Eeles, Rosalind A., Henderson, Brian E., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Olama, Ali Amin Al, Benlloch, Sara, Muir, Kenneth, Berndt, Sonja I., Conti, David V., Wiklund, Fredrik, Chanock, Stephen, Gapstur, Susan, Stevens, Victoria L., Tangen, Catherine M., Batra, Jyotsna, Clements, Judith, Gronberg, Henrik, Pashayan, Nora, Schleutker, Johanna, Albanes, Demetrius, Wolk, Alicja, West, Catharine, Mucci, Lorelei, Cancel-Tassin, Géraldine, Koutros, Stella, Sorensen, Karina Dalsgaard, Grindedal, Eli Marie, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Travis, Ruth C., Hamilton, Robert J., Ingles, Sue Ann, Rosenstein, Barry S., Lu, Yong-Jie, Giles, Graham G., Kibel, Adam S., Vega, Ana, Kogevinas, Manolis, Penney, Kathryn L., Park, Jong Y., Stanford, Janet L., Cybulski, Cezary, Nordestgaard, Børge G., Brenner, Hermann, Maier, Christiane, Kim, Jeri, John, Esther M., Teixeira, Manuel R., Neuhausen, Susan L., De Ruyck, Kim, Razack, Azad, Newcomb, Lisa F., Lessel, Davor, Kaneva, Radka, Usmani, Nawaid, Claessens, Frank, Townsend, Paul A., Gago-Dominguez, Manuela, Roobol, Monique J., Menegaux, Florence, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Thibodeau, Stephen N., Tilley, Wayne, Risbridger, Gail P., Horvath, Lisa, Taylor, Renea, Hayes, Vanessa, Butler, Lisa, Yeadon, Trina, Eckert, Allison, Saunders, Pamela, Haynes, Anne-Maree, Papargiris, Melissa, Srinivasan, Srilakshmi, Kedda, Mary-Anne, Moya, Leire, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Day, Felix R. [0000-0003-3789-7651], Busch, Alexander S. [0000-0003-4417-569X], Thompson, Deborah J. [0000-0003-1465-5799], Soares, Ana Luiza G. [0000-0003-2763-4647], Timmers, Paul R. H. J. [0000-0002-5197-1267], Kwong, Alex [0000-0003-1953-2771], Easton, Doug F. [0000-0003-2444-3247], Joshi, Peter K. [0000-0002-6361-5059], Timpson, Nicholas J. [0000-0002-7141-9189], Ong, Ken K. [0000-0003-4689-7530], and Apollo - University of Cambridge Repository
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631/443/494 ,631/208/205/2138 ,692/308/2056 ,45/43 ,article ,692/163 - Abstract
The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report a multi-trait genome-wide association study for male puberty timing with an effective sample size of 205,354 men. We find moderately strong genomic correlation in puberty timing between sexes (rg = 0.68) and identify 76 independent signals for male puberty timing. Implicated mechanisms include an unexpected link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and Mendelian randomization analyses show a genetic association between male puberty timing and shorter lifespan. These findings highlight the relationships between puberty timing and health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes.
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- 2020
15. Overlapping genetic architecture between Parkinson disease and melanoma
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Dube, Umber Ibanez, Laura Budde, John P. Benitez, Bruno A. and Davis, Albert A. Harari, Oscar Iles, Mark M. Law, Matthew H. Brown, Kevin M. Agee, Michelle Alipanahi, Babak and Auton, Adam Bell, Robert K. Bryc, Katarzyna Elson, Sarah L. Fontanillas, Pierre Furlotte, Nicholas A. Hinds, David A. and Huber, Karen E. Kleinman, Aaron Litterman, Nadia K. and McCreight, Jennifer C. McIntyre, Matthew H. Mountain, Joanna L. and Noblin, Elizabeth S. Northover, Carrie A. M. Pitts, Steven J. Sathirapongsasuti, J. Fah Sazonova, Olga V. Shelton, Janie F. Shringarpure, Suyash Tian, Chao Tung, Joyce Y. and Vacic, Vladimir Wilson, Catherine H. Law, M. H. Law, M. H. and Bishop, D. T. Lee, J. E. Brossard, M. Martin, N. G. and Moses, E. K. Song, F. Barrett, J. H. Kumar, R. Easton, D. F. Pharoah, P. D. Swerdlow, A. J. Kypreou, K. P. and Taylor, J. C. Harland, M. Randerson-Moor, J. Akslen, L. A. and Andresen, P. A. Avril, M. F. Azizi, E. Scarra, G. B. and Brown, K. M. Debniak, T. Duffy, D. L. Elder, D. E. Fang, S. Friedman, E. Galan, P. Ghiorzo, P. Gillanders, E. M. and Goldstein, A. M. Gruis, N. A. Hansson, J. Helsing, P. and Hocevar, M. Hoiom, V. Ingvar, C. Kanetsky, P. A. and Chen, W. V. Landi, M. T. Lang, J. Lathrop, G. M. and Lubinski, J. Mackie, R. M. Mann, G. J. Molven, A. and Montgomery, G. W. Novakovic, S. Olsson, H. Puig, S. and Puig-Butille, J. A. Wu, W. Qureshi, A. A. Radford-Smith, G. L. Van der Stoep, N. Van Doorn, R. Whiteman, D. C. and Craig, J. E. Schadendorf, E. Simms, L. A. Burdon, K. P. and Nyholt, D. R. Pooley, K. A. Orr, N. Stratigos, A. J. and Cust, A. E. Ward, S. V. Hayward, N. K. Han, J. Schulze, H. J. Dunning, A. M. Bishop, J. A. Demenais, F. Amos, C. I. MacGregor, S. Iles, M. M. Cruchaga, Carlos 23andMe Research Team Melanoma Meta Analysis Consortium
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Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case-control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10-0.24; P = 4.09 x 10(-06)) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 x 10(-04)) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.
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- 2020
16. Overlapping genetic architecture between Parkinson disease and melanoma
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Dube, Umber, Ibanez, Laura, Budde, John P., Benitez, Bruno A., Davis, Albert A., Harari, Oscar, Iles, M. M., Law, Matthew H., Brown, Kevin M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Bishop, D. T., Lee, J. E., Brossard, M., Martin, N. G., Moses, E. K., Song, F., Barrett, J. H., Kumar, R., Easton, D. F., Pharoah, P. D., Swerdlow, A. J., Kypreou, K. P., Taylor, J. C., Harland, M., Randerson-Moor, J., Akslen, L. A., Andresen, P. A., Avril, M. F., Azizi, E., Scarrà, G. B., Brown, K. M., Debniak, T., Duffy, D. L., Elder, D. E., Fang, S., Friedman, E., Galan, P., Ghiorzo, P., Gillanders, E. M., Goldstein, A. M., Gruis, N. A., Hansson, J., Helsing, P., Hočevar, M., Höiom, V., Ingvar, C., Kanetsky, P. A., Chen, W. V., Landi, M. T., Lang, J., Lathrop, G. M., Lubiński, J., Mackie, R. M., Mann, G. J., Molven, A., Montgomery, G. W., Novaković, S., Olsson, H., Puig, S., Puig-Butille, J. A., Wu, W., Qureshi, A. A., Radford-Smith, G. L., van der Stoep, N., van Doorn, R., Whiteman, D. C., Craig, J. E., Schadendorf, E., Simms, L. A., Burdon, K. P., Nyholt, D. R., Pooley, K. A., Orr, N., Stratigos, A. J., Cust, A. E., Ward, S. V., Hayward, N. K., Han, J., Schulze, H. J., Dunning, A. M., Bishop, J. A., Demenais, F., Amos, C. I., MacGregor, S., Cruchaga, Carlos, other, and, Dube, Umber, Ibanez, Laura, Budde, John P., Benitez, Bruno A., Davis, Albert A., Harari, Oscar, Iles, M. M., Law, Matthew H., Brown, Kevin M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Bishop, D. T., Lee, J. E., Brossard, M., Martin, N. G., Moses, E. K., Song, F., Barrett, J. H., Kumar, R., Easton, D. F., Pharoah, P. D., Swerdlow, A. J., Kypreou, K. P., Taylor, J. C., Harland, M., Randerson-Moor, J., Akslen, L. A., Andresen, P. A., Avril, M. F., Azizi, E., Scarrà, G. B., Brown, K. M., Debniak, T., Duffy, D. L., Elder, D. E., Fang, S., Friedman, E., Galan, P., Ghiorzo, P., Gillanders, E. M., Goldstein, A. M., Gruis, N. A., Hansson, J., Helsing, P., Hočevar, M., Höiom, V., Ingvar, C., Kanetsky, P. A., Chen, W. V., Landi, M. T., Lang, J., Lathrop, G. M., Lubiński, J., Mackie, R. M., Mann, G. J., Molven, A., Montgomery, G. W., Novaković, S., Olsson, H., Puig, S., Puig-Butille, J. A., Wu, W., Qureshi, A. A., Radford-Smith, G. L., van der Stoep, N., van Doorn, R., Whiteman, D. C., Craig, J. E., Schadendorf, E., Simms, L. A., Burdon, K. P., Nyholt, D. R., Pooley, K. A., Orr, N., Stratigos, A. J., Cust, A. E., Ward, S. V., Hayward, N. K., Han, J., Schulze, H. J., Dunning, A. M., Bishop, J. A., Demenais, F., Amos, C. I., MacGregor, S., Cruchaga, Carlos, and other, and
- Abstract
Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case–control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10–0.24; P = 4.09 × 10−06) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 × 10−04) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.
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- 2020
17. Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways
- Author
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Nagel, Mats, Jansen, Philip R., Stringer, Sven, Watanabe, Kyoko, De Leeuw, Christiaan A., Bryois, Julien, Savage, Jeanne E., Hammerschlag, Anke R., Skene, Nathan G., Muñoz-Manchado, Ana B., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., White, Tonya, Tiemeier, Henning, Linnarsson, Sten, Hjerling-Leffler, Jens, Polderman, Tinca J.C., Sullivan, Patrick F., Van Der Sluis, Sophie, Posthuma, Danielle, Child and Adolescent Psychiatry / Psychology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, Functional Genomics, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, VU University medical center, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, and Amsterdam Reproduction & Development (AR&D)
- Subjects
Adult ,Male ,0301 basic medicine ,Neurogenesis ,Genome-wide association study ,Biology ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,SDG 3 - Good Health and Well-being ,Risk Factors ,Polymorphism (computer science) ,mental disorders ,Genetics ,Humans ,Genetic Predisposition to Disease ,Gene ,Aged ,Neurons ,Neuroticism ,Depression ,Dopaminergic ,Mendelian Randomization Analysis ,Middle Aged ,Anxiety Disorders ,Axons ,030104 developmental biology ,Genetic Loci ,Meta-analysis ,Schizophrenia ,Female ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Neuroticism is an important risk factor for psychiatric traits, including depression 1 , anxiety 2,3 , and schizophrenia 4-6 . At the time of analysis, previous genome-wide association studies 7-12 (GWAS) reported 16 genomic loci associated to neuroticism 10-12 . Here we conducted a large GWAS meta-analysis (n = 449,484) of neuroticism and identified 136 independent genome-wide significant loci (124 new at the time of analysis), which implicate 599 genes. Functional follow-up analyses showed enrichment in several brain regions and involvement of specific cell types, including dopaminergic neuroblasts (P = 3.49 × 10 -8 ), medium spiny neurons (P = 4.23 × 10 -8 ), and serotonergic neurons (P = 1.37 × 10 -7 ). Gene set analyses implicated three specific pathways: neurogenesis (P = 4.43 × 10 -9 ), behavioral response to cocaine processes (P = 1.84 × 10 -7 ), and axon part (P = 5.26 × 10 -8 ). We show that neuroticism's genetic signal partly originates in two genetically distinguishable subclusters 13 ('depressed affect' and 'worry'), suggesting distinct causal mechanisms for subtypes of individuals. Mendelian randomization analysis showed unidirectional and bidirectional effects between neuroticism and multiple psychiatric traits. These results enhance neurobiological understanding of neuroticism and provide specific leads for functional follow-up experiments.
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- 2018
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18. Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy
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Krebs, Kristi, primary, Bovijn, Jonas, additional, Zheng, Neil, additional, Lepamets, Maarja, additional, Censin, Jenny C., additional, Jürgenson, Tuuli, additional, Särg, Dage, additional, Abner, Erik, additional, Laisk, Triin, additional, Luo, Yang, additional, Skotte, Line, additional, Geller, Frank, additional, Feenstra, Bjarke, additional, Wang, Wei, additional, Auton, Adam, additional, Raychaudhuri, Soumya, additional, Esko, Tõnu, additional, Metspalu, Andres, additional, Laur, Sven, additional, Roden, Dan M., additional, Wei, Wei-Qi, additional, Holmes, Michael V., additional, Lindgren, Cecilia M., additional, Phillips, Elizabeth J., additional, Mägi, Reedik, additional, Milani, Lili, additional, Fadista, João, additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Clark, Sarah K., additional, Elson, Sarah L., additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Lin, Keng-Han, additional, Litterman, Nadia K., additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, O’Connell, Jared, additional, Petrakovitz, Aaron A., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Sathirapongsasuti, J. Fah, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Tunney, Robert J., additional, Vacic, Vladimir, additional, Wang, Xin, additional, and Zare, Amir S., additional
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- 2020
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19. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
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Nalls, Mike A, primary, Blauwendraat, Cornelis, additional, Vallerga, Costanza L, additional, Heilbron, Karl, additional, Bandres-Ciga, Sara, additional, Chang, Diana, additional, Tan, Manuela, additional, Kia, Demis A, additional, Noyce, Alastair J, additional, Xue, Angli, additional, Bras, Jose, additional, Young, Emily, additional, von Coelln, Rainer, additional, Simón-Sánchez, Javier, additional, Schulte, Claudia, additional, Sharma, Manu, additional, Krohn, Lynne, additional, Pihlstrøm, Lasse, additional, Siitonen, Ari, additional, Iwaki, Hirotaka, additional, Leonard, Hampton, additional, Faghri, Faraz, additional, Gibbs, J Raphael, additional, Hernandez, Dena G, additional, Scholz, Sonja W, additional, Botia, Juan A, additional, Martinez, Maria, additional, Corvol, Jean-Christophe, additional, Lesage, Suzanne, additional, Jankovic, Joseph, additional, Shulman, Lisa M, additional, Sutherland, Margaret, additional, Tienari, Pentti, additional, Majamaa, Kari, additional, Toft, Mathias, additional, Andreassen, Ole A, additional, Bangale, Tushar, additional, Brice, Alexis, additional, Yang, Jian, additional, Gan-Or, Ziv, additional, Gasser, Thomas, additional, Heutink, Peter, additional, Shulman, Joshua M, additional, Wood, Nicholas W, additional, Hinds, David A, additional, Hardy, John A, additional, Morris, Huw R, additional, Gratten, Jacob, additional, Visscher, Peter M, additional, Graham, Robert R, additional, Singleton, Andrew B, additional, Adarmes-Gómez, Astrid D, additional, Aguilar, Miquel, additional, Aitkulova, Akbota, additional, Akhmetzhanov, Vadim, additional, Alcalay, Roy N, additional, Alvarez, Ignacio, additional, Alvarez, Victoria, additional, Barrero, Francisco Javier, additional, Bergareche Yarza, Jesús Alberto, additional, Bernal-Bernal, Inmaculada, additional, Billingsley, Kimberley, additional, Blazquez, Marta, additional, Bonilla-Toribio, Marta, additional, Botía, Juan A, additional, Boungiorno, María Teresa, additional, Brockmann, Kathrin, additional, Bubb, Vivien, additional, Buiza-Rueda, Dolores, additional, Cámara, Ana, additional, Carrillo, Fátima, additional, Carrión-Claro, Mario, additional, Cerdan, Debora, additional, Chelban, Viorica, additional, Clarimón, Jordi, additional, Clarke, Carl, additional, Compta, Yaroslau, additional, Cookson, Mark R, additional, Craig, David W, additional, Danjou, Fabrice, additional, Diez-Fairen, Monica, additional, Dols-Icardo, Oriol, additional, Duarte, Jacinto, additional, Duran, Raquel, additional, Escamilla-Sevilla, Francisco, additional, Escott-Price, Valentina, additional, Ezquerra, Mario, additional, Feliz, Cici, additional, Fernández, Manel, additional, Fernández-Santiago, Rubén, additional, Finkbeiner, Steven, additional, Foltynie, Thomas, additional, Garcia, Ciara, additional, García-Ruiz, Pedro, additional, Gomez Heredia, Maria Jose, additional, Gómez-Garre, Pilar, additional, González, Manuel Menéndez, additional, Gonzalez-Aramburu, Isabel, additional, Guelfi, Sebastian, additional, Guerreiro, Rita, additional, Hardy, John, additional, Hassin-Baer, Sharon, additional, Hoenicka, Janet, additional, Holmans, Peter, additional, Houlden, Henry, additional, Infante, Jon, additional, Jesús, Silvia, additional, Jimenez-Escrig, Adriano, additional, Kaishybayeva, Gulnaz, additional, Kaiyrzhanov, Rauan, additional, Karimova, Altynay, additional, Kinghorn, Kerri J, additional, Koks, Sulev, additional, Kulisevsky, Jaime, additional, Labrador-Espinosa, Miguel A, additional, Leonard, Hampton L, additional, Lewis, Patrick, additional, Lopez-Sendon, Jose Luis, additional, Lovering, Ruth, additional, Lubbe, Steven, additional, Lungu, Codrin, additional, Macias, Daniel, additional, Manzoni, Claudia, additional, Marín, Juan, additional, Marinus, Johan, additional, Marti, Maria Jose, additional, Martínez Torres, Irene, additional, Martínez-Castrillo, Juan Carlos, additional, Mata, Marina, additional, Mencacci, Niccolo E, additional, Méndez-del-Barrio, Carlota, additional, Middlehurst, Ben, additional, Mínguez, Adolfo, additional, Mir, Pablo, additional, Mok, Kin Y, additional, Muñoz, Esteban, additional, Nalls, Mike A, additional, Narendra, Derek, additional, Ojo, Oluwadamilola O, additional, Okubadejo, Njideka U, additional, Pagola, Ana Gorostidi, additional, Pastor, Pau, additional, Perez Errazquin, Francisco, additional, Periñán-Tocino, Teresa, additional, Pihlstrom, Lasse, additional, Plun-Favreau, Helene, additional, Quinn, John, additional, R'Bibo, Lea, additional, Reed, Xylena, additional, Rezola, Elisabet Mondragon, additional, Rizig, Mie, additional, Rizzu, Patrizia, additional, Robak, Laurie, additional, Rodriguez, Antonio Sanchez, additional, Rouleau, Guy A, additional, Ruiz-Martínez, Javier, additional, Ruz, Clara, additional, Ryten, Mina, additional, Sadykova, Dinara, additional, Schreglmann, Sebastian, additional, Shashkin, Chingiz, additional, Sierra, María, additional, Suarez-Sanmartin, Esther, additional, Taba, Pille, additional, Tabernero, Cesar, additional, Tan, Manuela X, additional, Tartari, Juan Pablo, additional, Tejera-Parrado, Cristina, additional, Tolosa, Eduard, additional, Trabzuni, Daniah, additional, Valldeoriola, Francesc, additional, van Hilten, Jacobus J, additional, Van Keuren-Jensen, Kendall, additional, Vargas-González, Laura, additional, Vela, Lydia, additional, Vives, Francisco, additional, Williams, Nigel, additional, Zharkinbekova, Nazira, additional, Zharmukhanov, Zharkyn, additional, Zholdybayeva, Elena, additional, Zimprich, Alexander, additional, Ylikotila, Pauli, additional, Shulman, Lisa M., additional, Reich, Stephen, additional, Savitt, Joseph, additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Huber, Karen E., additional, Hicks, Barry, additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Lin, Keng-Han, additional, Litterman, Nadia K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Sathirapongsasuti, J. Fah, additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce, additional, Vacic, Vladimir, additional, Wang, Xin, additional, Wilson, Catherine H., additional, Anderson, Tim, additional, Bentley, Steven, additional, Dalrymple-Alford, John, additional, Fowdar, Javed, additional, Halliday, Glenda, additional, Henders, Anjali K., additional, Hickie, Ian, additional, Kassam, Irfahan, additional, Kennedy, Martin, additional, Kwok, John, additional, Lewis, Simon, additional, Mellick, George, additional, Montgomery, Grant, additional, Pearson, John, additional, Pitcher, Toni, additional, Sidorenko, Julia, additional, Silburn, Peter A., additional, Vallerga, Costanza L., additional, Visscher, Peter M., additional, Wallace, Leanne, additional, Wray, Naomi R., additional, and Zhang, Futao, additional
- Published
- 2019
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20. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
- Author
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Lee, James J., Wedow, Robbee, Okbay, Aysu, Kong, Edward, Maghzian, Omeed, Zacher, Meghan, Nguyen-Viet, Tuan Anh, Bowers, Peter, Sidorenko, Julia, Karlsson Linnér, Richard, Fontana, Mark Alan, Kundu, Tushar, Lee, Chanwook, Hui, Li, Ruoxi, Li, Royer, Rebecca, Timshel, Pascal N., Walters, Raymond K., Willoughby, Emily A., Yengo, Loïc, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Hinds, David A., Mccreight, Jennifer C., Huber, Karen E., Litterman, Nadia K., Mcintyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wilson, Catherine H., Beauchamp, Jonathan P., Pers, Tune H., Rietveld, Cornelius A., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Vlaming, Ronald de, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Furlotte, Nicholas A., Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, van der Lee, Sven J., Leeuw, Christiaan de, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., Kähönen, Mika, Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, LifeLines Cohort Study, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., Mcmahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., Völker, Uwe, Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Boomsma, Dorret I., Borecki, Ingrid B., Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hoffmann, Wolfgang, Hyppönen, Elina, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtimäki, Terho, Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Metspalu, Andres, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Markus, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Tung, Joyce Y., Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Yang, Jian, Johannesson, Magnus, Visscher, Peter M., Esko, Tõnu, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Alver, Maris, Bao, Yanchun, Clark, David W., Day, Felix R., Kemper, Kathryn E., Kleinman, Aaron, Langenberg, Claudia, Trampush, Joey W., Verma, Shefali Setia, Yang, Wu, Lam, Max, Zhao, Jing Hua, Zheng, Zhili, Boardman, Jason D., Freese, Jeremy, Harris, Kathleen Mullan, Herd, Pamela, Kumari, Meena, Lencz, Todd, Luan, Jian’An, Malhotra, Anil K., Ong, Ken K., Perry, John R. B., Ritchie, Marylyn D., Smart, Melissa C., Wareham, Nicholas J., Robinson, Matthew R., Watson, Chelsea, Lee, James J, Wedow, Robbee, Okbay, Aysu, Kong, Edward, Hyppönen, Elina, Cesarini, David, 23andMe Research Team, COGENT (Cognitive Genomics Consortium), Social Science Genetic Association Consortium, LifeLines Cohort Study, Economics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Complex Trait Genetics, Lee, James J., Maghzian, Omeed, Zacher, Meghan, Nguyen-Viet, Tuan Anh, Bowers, Peter, Sidorenko, Julia, Karlsson Linnér, Richard, Fontana, Mark Alan, Kundu, Tushar, Lee, Chanwook, Li, Hui, Li, Ruoxi, Royer, Rebecca, Timshel, Pascal N., Walters, Raymond K., Willoughby, Emily A., Yengo, Loïc, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Hinds, David A., Mccreight, Jennifer C., Huber, Karen E., Litterman, Nadia K., Mcintyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wilson, Catherine H., Beauchamp, Jonathan P., Pers, Tune H., Rietveld, Cornelius A., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Vlaming, Ronald de, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jona, Baumbach, Clemen, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Furlotte, Nicholas A., Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Karlsson, Robert, Kong, Augustine, Lahti, Jari, van der Lee, Sven J., Leeuw, Christiaan de, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Pervjakova, Natalia, Peyrot, Wouter J., Qian, Yong, Raitakari, Olli, Rueedi, Rico, Salvi, Erika, Schmidt, Börge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Teumer, Alexander, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Westra, Harm-Jan, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bønnelykke, Klau, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Pano, Demuth, Ilja, Ding, Jun, Eibich, Peter, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldórsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika A., Kähönen, Mika, Kanoni, Stavroula, Keltigangas-Järvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Kutalik, Zoltan, Latvala, Antti, Launer, Lenore J., Lebreton, Maël P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, LifeLines Cohort, Study, Anu, Madden, Pamela A., Mägi, Reedik, Mäki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, Meddens, Gerardus A., Mcmahon, George, Meisinger, Christa, Meitinger, Thoma, Milaneschi, Yusplitri, Milani, Lili, Montgomery, Grant W., Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Räikkönen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, van Rooij, Frank J. A., Venturini, Cristina, Vinkhuyzen, Anna A. E., Völker, Uwe, Völzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johanne, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klau, Bertram, Lar, Bisgaard, Han, Boomsma, Dorret I., Borecki, Ingrid B., Bültmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, Ian J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Franke, Lude, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Jörgen, Gratten, Jacob, Groenen, Patrick J. F., Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hoffmann, Wolfgang, Iacono, William G., Jacobsson, Bo, Järvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehtimäki, Terho, Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., Mcgue, Matt, Metspalu, Andre, Pendleton, Neil, Penninx, Brenda W. J. H., Perola, Marku, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sørensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Tung, Joyce Y., Uitterlinden, André G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Hofman, Albert, Laibson, David I., Medland, Sarah E., Meyer, Michelle N., Yang, Jian, Johannesson, Magnu, Visscher, Peter M., Esko, Tõnu, Koellinger, Philipp D., Benjamin, Daniel J., Alver, Mari, Bao, Yanchun, Clark, David W., Day, Felix R., Kemper, Kathryn E., Kleinman, Aaron, Langenberg, Claudia, Trampush, Joey W., Verma, Shefali Setia, Wu, Yang, Lam, Max, Zhao, Jing Hua, Zheng, Zhili, Boardman, Jason D., Freese, Jeremy, Harris, Kathleen Mullan, Herd, Pamela, Kumari, Meena, Lencz, Todd, Luan, Jian’An, Malhotra, Anil K., Ong, Ken K., Perry, John R. B., Ritchie, Marylyn D., Smart, Melissa C., Wareham, Nicholas J., Robinson, Matthew R., Watson, Chelsea, Faculteit Medische Wetenschappen/UMCG, Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Research Institute for Asthma and COPD (GRIAC), Department of Health and Life Sciences, Public Health Research (PHR), Stem Cell Aging Leukemia and Lymphoma (SALL), Cardiovascular Centre (CVC), Neurology, Psychiatry, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Digital Health, Medical Oncology, Applied Economics, Day, Felix [0000-0003-3789-7651], Langenberg, Claudia [0000-0002-5017-7344], Zhao, Jing Hua [0000-0003-4930-3582], Luan, Jian'an [0000-0003-3137-6337], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, and Cappuccio, Francesco
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0301 basic medicine ,Male ,Netherlands Twin Register (NTR) ,Multifactorial Inheritance ,genetic association ,LOCI ,Medizin ,Genome-wide association study ,INTELLIGENCE ,Cohort Studies ,0302 clinical medicine ,GWAS ,Genetics ,Aged, 80 and over ,Genome ,HERITABILITY ,HUMAN TRAITS ,Middle Aged ,HUMAN BRAIN ,STATISTICS ,3. Good health ,Phenotype ,Meta-analysis ,Urological cancers Radboud Institute for Health Sciences [Radboudumc 15] ,educational attainment ,POPULATIONS ,Educational Status ,Female ,genome-wide-significant SNPs ,SDG 4 - Quality Education ,Adult ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,SNP ,Humans ,QH426 ,Behavioural genetics ,METAANALYSIS ,Aged ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Sequence Analysis, DNA ,Heritability ,Educational attainment ,polygenic prediction ,030104 developmental biology ,Genome-Wide Association Study ,MAPPING CAUSAL VARIANTS ,030217 neurology & neurosurgery - Abstract
Contains fulltext : 195595.pdf (Publisher’s version ) (Open Access) Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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- 2018
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21. Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank
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Barbu, Miruna C., Zeng, Yanni, Deary, Ian J., Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, McIntosh, Andrew M., Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Whalley, Heather C., Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Wray, Naomi R., Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Ripke, Stephan, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Mattheisen, Manuel, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Trzaskowski, Maciej, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Byrne, Enda M., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., Abdellaoui, Abdel, Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Adams, Mark J., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Shen, Xueyi, Agerbo, Esben, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Air, Tracy M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Andlauer, Till F. M., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Bacanu, Silviu-Alin, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Bækvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Cox, Simon R., Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R. I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Gibson, Jude, Hassan Kiadeh, Farnush Farhadi, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Johnstone, Mandy, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., Haley, Chris S., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Lawrie, Stephen M., Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, and Ng, Bernard
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Male ,Multifactorial Inheritance ,Cognitive Neuroscience ,Thalamic radiations ,Major depressive disorder ,Polymorphism, Single Nucleotide ,Article ,NETRIN1 ,Polygenic risk score ,Nuclear Medicine and Imaging ,Humans ,Genetic Predisposition to Disease ,ddc:610 ,Biological pathway ,Biological Psychiatry ,Aged ,Biological Specimen Banks ,White matter ,Radiology, Nuclear Medicine and Imaging ,Neurology (clinical) ,Depressive Disorder, Major ,Brain ,Middle Aged ,Netrin-1 ,United Kingdom ,Diffusion Tensor Imaging ,Female ,Radiology ,Genome-Wide Association Study ,Signal Transduction - Abstract
BACKGROUND: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement. Stratifying disease risk by genetic variation within the NETRIN1 pathway may provide important routes for identification of disease mechanisms by focusing on a specific process, excluding heterogeneous risk-associated variation in other pathways. Here, we sought to investigate whether major depressive disorder polygenic risk scores derived from the NETRIN1 signaling pathway (NETRIN1-PRSs) and the whole genome, excluding NETRIN1 pathway genes (genomic-PRSs), were associated with white matter microstructure.METHODS: We used two diffusion tensor imaging measures, fractional anisotropy (FA) and mean diffusivity (MD), in the most up-to-date UK Biobank neuroimaging data release (FA: n = 6401; MD: n = 6390).RESULTS: We found significantly lower FA in the superior longitudinal fasciculus (β = -.035, pcorrected = .029) and significantly higher MD in a global measure of thalamic radiations (β = .029, pcorrected = .021), as well as higher MD in the superior (β = .034, pcorrected = .039) and inferior (β = .029, pcorrected = .043) longitudinal fasciculus and in the anterior (β = .025, pcorrected = .046) and superior (β = .027, pcorrected = .043) thalamic radiation associated with NETRIN1-PRS. Genomic-PRS was also associated with lower FA and higher MD in several tracts.CONCLUSIONS: Our findings indicate that variation in the NETRIN1 signaling pathway may confer risk for major depressive disorder through effects on a number of white matter tracts.
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- 2019
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22. Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci
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Dudding, Tom, Haworth, Simon, Lind, Penelope A., Sathirapongsasuti, J. Fah, Tung, Joyce Y., Mitchell, Ruth, Colodro-Conde, Lucia, Medland, Sarah E., Gordon, Scott, Elsworth, Benjamin, Paternoster, Lavinia, Franks, Paul W., Thomas, Steven J., Martin, Nicholas G., Timpson, Nicholas J., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCeight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Poznik, David, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Dudding, Tom, Haworth, Simon, Lind, Penelope A., Sathirapongsasuti, J. Fah, Tung, Joyce Y., Mitchell, Ruth, Colodro-Conde, Lucia, Medland, Sarah E., Gordon, Scott, Elsworth, Benjamin, Paternoster, Lavinia, Franks, Paul W., Thomas, Steven J., Martin, Nicholas G., Timpson, Nicholas J., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCeight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Poznik, David, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wang, Xin, and Wilson, Catherine H.
- Abstract
Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.
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- 2019
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23. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
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Linner, Richard Karlsson, Biroli, Pietro, Kong, Edward, Meddens, Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Mael, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, de Vlaming, Ronald, Zund, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntane, Gerard, Sanchez-Roige, Sandra, van Rooij, Frank J., Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawusse, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Bonder, Marc Jan, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tonu, Fave, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kahonen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimaki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Mueller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rueger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppala, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bramt, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tonjes, Anke, van Dongen, Jenny, van Meurs, Joyce, Verlouw, Joost, Visscher, Peter M., Voelker, Uwe, Vosa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Boerge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Voelzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Joergen, Gratten, Jacob, Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hypponen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Laibson, David I., Medland, Sarah E., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Groenen, Patrick J. F., Harris, Kathleen Mullan, Hasler, Gregor, Hofman, Albert, Ikram, Mohammad A., Jain, Sonia, Karlsson, Robert, Kessler, Ronald C., Kooyman, Maarten, MacKillop, James, Mannikko, Minna, Morcillo-Suarez, Carlos, McQueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, de Wit, Harriet, Fehr, Ernst, Kumari, Meena, Laibson, David, Meyer, Michelle N., Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Beauchamp, Jonathan P., Linner, Richard Karlsson, Biroli, Pietro, Kong, Edward, Meddens, Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Mael, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, de Vlaming, Ronald, Zund, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntane, Gerard, Sanchez-Roige, Sandra, van Rooij, Frank J., Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawusse, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Bonder, Marc Jan, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tonu, Fave, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kahonen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimaki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Mueller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rueger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppala, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bramt, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tonjes, Anke, van Dongen, Jenny, van Meurs, Joyce, Verlouw, Joost, Visscher, Peter M., Voelker, Uwe, Vosa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Boerge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Voelzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Joergen, Gratten, Jacob, Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hypponen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Laibson, David I., Medland, Sarah E., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Groenen, Patrick J. F., Harris, Kathleen Mullan, Hasler, Gregor, Hofman, Albert, Ikram, Mohammad A., Jain, Sonia, Karlsson, Robert, Kessler, Ronald C., Kooyman, Maarten, MacKillop, James, Mannikko, Minna, Morcillo-Suarez, Carlos, McQueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, de Wit, Harriet, Fehr, Ernst, Kumari, Meena, Laibson, David, Meyer, Michelle N., Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., and Beauchamp, Jonathan P.
- Abstract
Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated (vertical bar(r) over cap (g)vertical bar similar to 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance.
- Published
- 2019
24. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
- Author
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Demontis, Ditte, Walters, Raymond K., Martin, Joanna, Mattheisen, Manuel, Als, Thomas D., Agerbo, Esben, Baldursson, Gisli, Belliveau, Rich, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Eriksson, Nicholas, Gandal, Michael, Goldstein, Jacqueline I., Grasby, Katrina L., Grove, Jakob, Gudmundsson, Olafur O., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian B., Martin, Alicia R., Martin, Nicholas G., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Poterba, Timothy, Poulsen, Jesper Buchhave, Ripke, Stephan, Robinson, Elise B., Satterstrom, F. Kyle, Stefansson, Hreinn, Stevens, Christine, Turley, Patrick, Walters, G. Bragi, Won, Hyejung, Wright, Margaret J., Andreassen, Ole A., Asherson, Philip, Burton, Christie L., Boomsma, Dorret I., Cormand, Bru, Dalsgaard, Soren, Franke, Barbara, Gelernter, Joel, Geschwind, Daniel, Hakonarson, Hakon, Haavik, Jan, Kranzler, Henry R., Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Middeldorp, Christel, Reif, Andreas, Rohde, Luis Augusto, Roussos, Panos, Schachar, Russell, Sklar, Pamela, Sonuga-Barke, Edmund J. S., Sullivan, Patrick F., Thapar, Anita, Tung, Joyce Y., Waldman, Irwin D., Medland, Sarah E., Stefansson, Kari, Nordentoft, Merete, Hougaard, David M., Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Daly, Mark J., Faraone, Stephen V., Borglum, Anders D., Neale, Benjamin M., Albayrak, Ozgur, Anney, Richard J. L., Arranz, Maria Jesus, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Crosbie, Jennifer, Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Freitag, Christine, Focker, Manuel, Gill, Michael, Grevet, Eugenio, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Lambregts-Rommelse, Nanda, Lehmkuhl, Gerd, Loo, Sandra K., McGough, James J., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mota, Nina Roth, Mulas, Fernando, Mulligan, Aisling, Nelson, Freimer, Nguyen, T. Trang, Oades, Robert D., O'Donovan, Michael C., Owen, Michael J., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Renner, Tobias J., Ribases, Marta, Rietschel, Marcella, Rivero, Olga, Romanos, Jasmin, Romanos, Marcel, Rothenberger, Aribert, Royers, Herbert, Sanchez-Mora, Christina, Scherag, Andre, Schimmelmann, Benno G., Schafer, Helmut, Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Steinhausen, Hans-Christoph, Thompson, Margaret, Todorov, Alexandre, Vasquez, Alejandro Arias, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Smith, George Davey, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Greven, Corina U., Groen-Blokhuis, Maria M., Guxens, Monica, Hammerschlag, Anke R., Hartman, Catharina A., Heinrich, Joachim, Hottenga, Jouke Jan, Hudziak, James, Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Murcia, Mario, Myhre, Ronny, Nolte, Ilja M., Nyholt, Dale R., Ormel, Johan, Ouwens, Klaasjan G., Pappa, Irene, Pennell, Craig E., Plomin, Robert, Ring, Susan, Standl, Marie, Stergiakouli, Evie, St Pourcain, Beate, Stoltenberg, Camilla, Sunyer, Jordi, Thiering, Elisabeth, Tiemeier, Henning, Tiesler, Carla M. T., Timpson, Nicholas J., Trzaskowski, Maciej, van der Most, Peter Johannes, Vilor-Tejedor, Natalia, Wang, Carol A., Whitehouse, Andrew J. O., Zhao, Huiying, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wilson, Catherine H., Demontis, Ditte, Walters, Raymond K., Martin, Joanna, Mattheisen, Manuel, Als, Thomas D., Agerbo, Esben, Baldursson, Gisli, Belliveau, Rich, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Eriksson, Nicholas, Gandal, Michael, Goldstein, Jacqueline I., Grasby, Katrina L., Grove, Jakob, Gudmundsson, Olafur O., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian B., Martin, Alicia R., Martin, Nicholas G., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Poterba, Timothy, Poulsen, Jesper Buchhave, Ripke, Stephan, Robinson, Elise B., Satterstrom, F. Kyle, Stefansson, Hreinn, Stevens, Christine, Turley, Patrick, Walters, G. Bragi, Won, Hyejung, Wright, Margaret J., Andreassen, Ole A., Asherson, Philip, Burton, Christie L., Boomsma, Dorret I., Cormand, Bru, Dalsgaard, Soren, Franke, Barbara, Gelernter, Joel, Geschwind, Daniel, Hakonarson, Hakon, Haavik, Jan, Kranzler, Henry R., Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Middeldorp, Christel, Reif, Andreas, Rohde, Luis Augusto, Roussos, Panos, Schachar, Russell, Sklar, Pamela, Sonuga-Barke, Edmund J. S., Sullivan, Patrick F., Thapar, Anita, Tung, Joyce Y., Waldman, Irwin D., Medland, Sarah E., Stefansson, Kari, Nordentoft, Merete, Hougaard, David M., Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Daly, Mark J., Faraone, Stephen V., Borglum, Anders D., Neale, Benjamin M., Albayrak, Ozgur, Anney, Richard J. L., Arranz, Maria Jesus, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Crosbie, Jennifer, Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Freitag, Christine, Focker, Manuel, Gill, Michael, Grevet, Eugenio, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Lambregts-Rommelse, Nanda, Lehmkuhl, Gerd, Loo, Sandra K., McGough, James J., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mota, Nina Roth, Mulas, Fernando, Mulligan, Aisling, Nelson, Freimer, Nguyen, T. Trang, Oades, Robert D., O'Donovan, Michael C., Owen, Michael J., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Renner, Tobias J., Ribases, Marta, Rietschel, Marcella, Rivero, Olga, Romanos, Jasmin, Romanos, Marcel, Rothenberger, Aribert, Royers, Herbert, Sanchez-Mora, Christina, Scherag, Andre, Schimmelmann, Benno G., Schafer, Helmut, Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Steinhausen, Hans-Christoph, Thompson, Margaret, Todorov, Alexandre, Vasquez, Alejandro Arias, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Smith, George Davey, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Greven, Corina U., Groen-Blokhuis, Maria M., Guxens, Monica, Hammerschlag, Anke R., Hartman, Catharina A., Heinrich, Joachim, Hottenga, Jouke Jan, Hudziak, James, Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Murcia, Mario, Myhre, Ronny, Nolte, Ilja M., Nyholt, Dale R., Ormel, Johan, Ouwens, Klaasjan G., Pappa, Irene, Pennell, Craig E., Plomin, Robert, Ring, Susan, Standl, Marie, Stergiakouli, Evie, St Pourcain, Beate, Stoltenberg, Camilla, Sunyer, Jordi, Thiering, Elisabeth, Tiemeier, Henning, Tiesler, Carla M. T., Timpson, Nicholas J., Trzaskowski, Maciej, van der Most, Peter Johannes, Vilor-Tejedor, Natalia, Wang, Carol A., Whitehouse, Andrew J. O., Zhao, Huiying, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, and Wilson, Catherine H.
- Abstract
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.
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- 2019
25. WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
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Nersisyan, Lilit, Nikoghosyan, Maria, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Elbers, Clara C., Kloosterman, Wigard P., van Setten, Jessica, Nijman, Isaac J., Renkens, Ivo, de Bakker, Paul I. W., van Dijk, Freerk, Neerincx, Pieter B. T., Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, Heorhiy, van der Velde, K. Joeri, Platteel, Mathieu, Swertz, Morris A., Wijmenga, Cisca, Palamara, Pier Francesco, Pe'er, Itsik, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H., Beekman, Marian, de Craen, Anton J. M., Suchiman, H. Eka D., Slagboom, P. Eline, Guryev, Victor, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, Mathijs, Willemsen, Gonneke, Boomsma, Dorret I., van Leeuwen, Elisabeth M., Karssen, Lennart C., Amin, Najaf, Rivadeneira, Fernando, Isaacs, Aaron, Hofman, Albert, Uitterlinden, Andre G., van Duijn, Cornelia M., van Oven, Mannis, Kayser, Manfred, Vermaat, Martijn, Laros, Jeroen F. J., den Dunnen, Johan T., van Enckevort, David, Mei, Hailiang, Li, Mingkun, Stoneking, Mark, van Schaik, Barbera D. C., Bot, Jan, Marschall, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Estrada, Karol, McCarroll, Steven A., Sunyaev, Shamil R., Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, Carolina, Oostra, Ben, Veldink, Jan H., van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., de Knijff, Peter, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Wang, Jun, Li, Ning, Cao, Sujie, Bovenberg, Jasper A., van Ommen, Gert-Jan B., Arakelyan, Arsen, Nersisyan, Lilit, Nikoghosyan, Maria, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Elbers, Clara C., Kloosterman, Wigard P., van Setten, Jessica, Nijman, Isaac J., Renkens, Ivo, de Bakker, Paul I. W., van Dijk, Freerk, Neerincx, Pieter B. T., Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, Heorhiy, van der Velde, K. Joeri, Platteel, Mathieu, Swertz, Morris A., Wijmenga, Cisca, Palamara, Pier Francesco, Pe'er, Itsik, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H., Beekman, Marian, de Craen, Anton J. M., Suchiman, H. Eka D., Slagboom, P. Eline, Guryev, Victor, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, Mathijs, Willemsen, Gonneke, Boomsma, Dorret I., van Leeuwen, Elisabeth M., Karssen, Lennart C., Amin, Najaf, Rivadeneira, Fernando, Isaacs, Aaron, Hofman, Albert, Uitterlinden, Andre G., van Duijn, Cornelia M., van Oven, Mannis, Kayser, Manfred, Vermaat, Martijn, Laros, Jeroen F. J., den Dunnen, Johan T., van Enckevort, David, Mei, Hailiang, Li, Mingkun, Stoneking, Mark, van Schaik, Barbera D. C., Bot, Jan, Marschall, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Estrada, Karol, McCarroll, Steven A., Sunyaev, Shamil R., Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, Carolina, Oostra, Ben, Veldink, Jan H., van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., de Knijff, Peter, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Wang, Jun, Li, Ning, Cao, Sujie, Bovenberg, Jasper A., van Ommen, Gert-Jan B., and Arakelyan, Arsen
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- 2019
26. Genome-wide association studies of impulsive personality traits (BIS-11 and UPPSP) and drug Experimentation in up to 22,861 adult research participants
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Sanchez-Roige, Sandra, Fontanillas, Pierre, Elson, Sarah L., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Catherine, H., Gray, Joshua C., Wit, Harriet de, MacKillop, James, and Palmer, Abraham A.
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biology ,Genome-wide association study ,biology.organism_classification ,medicine.disease ,Impulsivity ,Substance abuse ,Barratt Impulsiveness Scale ,Endophenotype ,medicine ,Sensation seeking ,Cannabis ,medicine.symptom ,Psychology ,Clinical psychology ,Genetic association - Abstract
BackgroundImpulsive personality traits are complex heritable traits that are governed by frontal-subcortical circuits and are associated with numerous neuropsychiatric disorders, particularly drug abuse.MethodsIn collaboration with the genetics company 23andMe, Inc., we performed several genome-wide association studies (GWAS) on measures of impulsive personality traits (the short version of the UPPSP Impulsive Behavior Scale, and the Barratt Impulsiveness Scale [BIS-11]) and drug experimentation (the number of drug classes an individual has tried in their lifetime) in up to 22,861 male and female adult research participants of European ancestry.ResultsImpulsive personality traits and drug experimentation showed SNP-heritabilities that ranged from 5 to 11%. Genetic variants in theCADM2locus were significantly associated with the UPPSP Sensation Seeking subscale (P= 8.3 × 10-9, rs139528938) and showed a suggestive association with drug experimentation (P= 3.0 × 10-7, rs2163971; r2= 0.68 with rs139528938);CADM2has been previously associated with measures of risky behaviors and self-reported risk tolerance, cannabis initiation, alcohol consumption, as well as information speed processing, body mass index (BMI) variation and obesity. Furthermore, genetic variants in theCACNA1Ilocus were significantly associated with the UPPSP Negative Urgency subscale (P= 3.8 × 10-8, rs199694726). Multiple subscales from both UPPSP and BIS showed strong genetic correlations (>0.5) with drug experimentation and other substance use traits measured in independent cohorts, including smoking initiation, and lifetime cannabis use. Several UPPSP and BIS subscales were genetically correlated with attention-deficit/hyperactivity disorder (rg= 0.30-0.51, p < 8.69 x 10-3), supporting their validity as endophenotypes.ConclusionsOur findings demonstrate a role for common genetic contributions to individual differences in impulsivity. Furthermore, our study is the first to provide a genetic dissection of the relationship between different types of impulsive personality traits and various psychiatric disorders.
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- 2018
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27. A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder
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Martin, Joanna, Walters, Raymond K., Demontis, Ditte, Mattheisen, Manuel, Lee, S. Hong, Robinson, Elise, Brikell, Isabell, Ghirardi, Laura, Larsson, Henrik, Lichtenstein, Paul, Eriksson, Nicholas, Werge, Thomas, Mortensen, Preben Bo, Pedersen, Marianne Giørtz, Mors, Ole, Nordentoft, Merete, Hougaard, David M., Bybjerg-Grauholm, Jonas, Wray, Naomi R., Franke, Barbara, Faraone, Stephen V., O'Donovan, Michael, Thapar, Anita, Børglum, Anders D., Neale, Benjamin M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Albayrak, Özgür, Anney, Richard J. L., Vasquez, Alejandro Arias, Arranz, Maria Jesús, Asherson, Philip, Banaschewski, Tobias, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Soeren, Daly, Mark J., Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Föcker, Manuel, Freitag, Christine, Gelernter, Joel, Gill, Michael, Grevet, Eugenio, Haavik, Jan, Hakonarson, Hakon, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Kranzler, Henry, Kuntsi, Jonna, Lambregts-Rommelse, Nanda, Langley, Kate, Lehmkuhl, Gerd, Lesch, Klaus-Peter, Loo, Sandra K., McGough, James J., Medland, Sarah E., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mulas, Fernando, Mulligan, Aisling, Nelson, Stan F., Nguyen, T. Trang, Oades, Robert D., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Renner, Tobias J., Rhode, Luis, Ribasés, Marta, Rietschel, Marcella, Ripke, Stephan, Rivero, Olga, Sánchez-Mora, Cristina, Schachar, Russell, Schäfer, Helmut, Scherag, André, Schimmelmann, Benno G., Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Sonuga-Barke, Edmund J.S., Steinhausen, Hans-Christoph, Sullivan, Patrick F., Thompsom, Margaret, Todorov, Alexandre, Waldman, Irwin, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Agerbo, Esben, Damm Als, Thomas, Bækved-Hansen, Marie, Belliveau, Rich, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dalsgaard, Søren, Dumont, Ashley, Goldstein, Jacqueline, Grove, Jakob, Hansen, Christine S., Engel Hauberg, Mads, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian, Martin, Alicia R., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bøcker, Poterba, Timothy, Poulson, Jesper Buchhave, Robinson, Elise B., Satterstrom, F. Kyle, Stevens, Christine, and Turley, Patrick
- Abstract
Background Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is 2-7 times more common in males than females. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. Methods We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (20,183 cases, 35,191 controls) and Swedish populationregister data (N=77,905 cases, N=1,874,637 population controls). Results Genetic correlation analyses using two methods suggested near complete sharing of common variant effects across sexes, with rg estimates close to 1. Analyses of population data, however, indicated that females with ADHD may be at especially high risk of certain comorbid developmental conditions (i.e. autism spectrum disorder and congenital malformations), potentially indicating some clinical and etiological heterogeneity. Polygenic risk score (PRS) analysis did not support a higher burden of ADHD common risk variants in female cases (OR=1.02 [0.98-1.06], p=0.28). In contrast, epidemiological sibling analyses revealed that the siblings of females with ADHD are at higher familial risk of ADHD than siblings of affected males (OR=1.14, [95% CI: 1.11-1.18], p=1.5E-15). Conclusions Overall, this study supports a greater familial burden of risk in females with ADHD and some clinical and etiological heterogeneity, based on epidemiological analyses. However, molecular genetic analyses suggest that autosomal common variants largely do not explain the sex bias in ADHD prevalence.
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- 2018
28. Multi-trait analysis of genome-wide association summary statistics using MTAG
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Turley, Patrick, Walters, Raymond K., Maghzian, Omeed, Okbay, Aysu, Lee, James J., Fontana, Mark Alan, Nguyen-Viet, Tuan Anh, Wedow, Robbee, Zacher, Meghan, Furlotte, Nicholas A., Magnusson, Patrik, Oskarsson, Sven, Johannesson, Magnus, Visscher, Peter M., Laibson, David, Cesarini, David, Neale, Benjamin M., Benjamin, Daniel J., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Pitts, Steven J., Biological Psychology, Economics, and Amsterdam Neuroscience - Complex Trait Genetics
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0301 basic medicine ,Multifactorial Inheritance ,Quantitative Trait Loci ,Datasets as Topic ,Genome-wide association study ,Computational biology ,Biology ,Quantitative trait locus ,Polymorphism, Single Nucleotide ,Article ,Diagnostic Self Evaluation ,03 medical and health sciences ,0302 clinical medicine ,Meta-Analysis as Topic ,Polymorphism (computer science) ,Multi trait ,Genetics ,Humans ,Genetic Association Studies ,Genetic association ,Neuroticism ,Depression ,Explained variation ,Summary statistics ,Phenotype ,030104 developmental biology ,Health ,Data Interpretation, Statistical ,Algorithms ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
We introduce multi-trait analysis of GWAS (MTAG), a method for joint analysis of summary statistics from genome-wide association studies (GWAS) of different traits, possibly from overlapping samples. We apply MTAG to summary statistics for depressive symptoms (Neff = 354,862), neuroticism (N = 168,105), and subjective well-being (N = 388,538). As compared to the 32, 9, and 13 genome-wide significant loci identified in the single-trait GWAS (most of which are themselves novel), MTAG increases the number of associated loci to 64, 37, and 49, respectively. Moreover, association statistics from MTAG yield more informative bioinformatics analyses and increase the variance explained by polygenic scores by approximately 25%, matching theoretical expectations.
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- 2018
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29. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
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Nakka, Priyanka, primary, Pattillo Smith, Samuel, additional, O’Donnell-Luria, Anne H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Ramachandran, Sohini, additional, Sathirapongsasuti, J. Fah, additional, Agee, Michelle, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Hicks, Barry, additional, Hinds, David A., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Lin, Keng-Han, additional, McCreight, Jennifer C., additional, Huber, Karen E., additional, Kleinman, Aaron, additional, Litterman, Nadia K., additional, McIntyre, Matthew H., additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Vacic, Vladimir, additional, and Wang, Xin, additional
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- 2019
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30. Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank
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Barbu, Miruna C., primary, Zeng, Yanni, additional, Shen, Xueyi, additional, Cox, Simon R., additional, Clarke, Toni-Kim, additional, Gibson, Jude, additional, Adams, Mark J., additional, Johnstone, Mandy, additional, Haley, Chris S., additional, Lawrie, Stephen M., additional, Deary, Ian J., additional, McIntosh, Andrew M., additional, Whalley, Heather C., additional, Wray, Naomi R., additional, Ripke, Stephan, additional, Mattheisen, Manuel, additional, Trzaskowski, Maciej, additional, Byrne, Enda M., additional, Abdellaoui, Abdel, additional, Agerbo, Esben, additional, Air, Tracy M., additional, Andlauer, Till F.M., additional, Bacanu, Silviu-Alin, additional, Bækvad-Hansen, Marie, additional, Beekman, Aartjan T.F., additional, Bigdeli, Tim B., additional, Binder, Elisabeth B., additional, Blackwood, Douglas H.R., additional, Bryois, Julien, additional, Buttenschøn, Henriette N., additional, Bybjerg-Grauholm, Jonas, additional, Cai, Na, additional, Castelao, Enrique, additional, Christensen, Jane Hvarregaard, additional, Coleman, Jonathan R.I., additional, Colodro-Conde, Lucía, additional, Couvy-Duchesne, Baptiste, additional, Craddock, Nick, additional, Crawford, Gregory E., additional, Davies, Gail, additional, Degenhardt, Franziska, additional, Derks, Eske M., additional, Direk, Nese, additional, Dolan, Conor V., additional, Dunn, Erin C., additional, Eley, Thalia C., additional, Escott-Price, Valentina, additional, Hassan Kiadeh, Farnush Farhadi, additional, Finucane, Hilary K., additional, Forstner, Andreas J., additional, Frank, Josef, additional, Gaspar, Héléna A., additional, Gill, Michael, additional, Goes, Fernando S., additional, Gordon, Scott D., additional, Grove, Jakob, additional, Hall, Lynsey S., additional, Hansen, Christine Søholm, additional, Hansen, Thomas F., additional, Herms, Stefan, additional, Hickie, Ian B., additional, Hoffmann, Per, additional, Homuth, Georg, additional, Horn, Carsten, additional, Hottenga, Jouke-Jan, additional, Hougaard, David M., additional, Ising, Marcus, additional, Jansen, Rick, additional, Jorgenson, Eric, additional, Knowles, James A., additional, Kohane, Isaac S., additional, Kraft, Julia, additional, Kretzschmar, Warren W., additional, Krogh, Jesper, additional, Kutalik, Zoltán, additional, Li, Yihan, additional, Lind, Penelope A., additional, MacIntyre, Donald J., additional, MacKinnon, Dean F., additional, Maier, Robert M., additional, Maier, Wolfgang, additional, Marchini, Jonathan, additional, Mbarek, Hamdi, additional, McGrath, Patrick, additional, McGuffin, Peter, additional, Medland, Sarah E., additional, Mehta, Divya, additional, Middeldorp, Christel M., additional, Mihailov, Evelin, additional, Milaneschi, Yuri, additional, Milani, Lili, additional, Mondimore, Francis M., additional, Montgomery, Grant W., additional, Mostafavi, Sara, additional, Mullins, Niamh, additional, Nauck, Matthias, additional, Ng, Bernard, additional, Nivard, Michel G., additional, Nyholt, Dale R., additional, O'Reilly, Paul F., additional, Oskarsson, Hogni, additional, Owen, Michael J., additional, Painter, Jodie N., additional, Pedersen, Carsten Bøcker, additional, Pedersen, Marianne Giørtz, additional, Peterson, Roseann E., additional, Pettersson, Erik, additional, Peyrot, Wouter J., additional, Pistis, Giorgio, additional, Posthuma, Danielle, additional, Quiroz, Jorge A., additional, Qvist, Per, additional, Rice, John P., additional, Riley, Brien P., additional, Rivera, Margarita, additional, Mirza, Saira Saeed, additional, Schoevers, Robert, additional, Schulte, Eva C., additional, Shen, Ling, additional, Shi, Jianxin, additional, Shyn, Stanley I., additional, Sigurdsson, Engilbert, additional, Sinnamon, Grant C.B., additional, Smit, Johannes H., additional, Smith, Daniel J., additional, Stefansson, Hreinn, additional, Steinberg, Stacy, additional, Streit, Fabian, additional, Strohmaier, Jana, additional, Tansey, Katherine E., additional, Teismann, Henning, additional, Teumer, Alexander, additional, Thompson, Wesley, additional, Thomson, Pippa A., additional, Thorgeirsson, Thorgeir E., additional, Traylor, Matthew, additional, Treutlein, Jens, additional, Trubetskoy, Vassily, additional, Uitterlinden, André G., additional, Umbricht, Daniel, additional, Van der Auwera, Sandra, additional, van Hemert, Albert M., additional, Viktorin, Alexander, additional, Visscher, Peter M., additional, Wang, Yunpeng, additional, Webb, Bradley T., additional, Weinsheimer, Shantel Marie, additional, Wellmann, Jürgen, additional, Willemsen, Gonneke, additional, Witt, Stephanie H., additional, Wu, Yang, additional, Xi, Hualin S., additional, Yang, Jian, additional, Zhang, Futao, additional, Arolt, Volker, additional, Baune, Bernhard T., additional, Berger, Klaus, additional, Boomsma, Dorret I., additional, Cichon, Sven, additional, Dannlowski, Udo, additional, de Geus, E.J.C., additional, DePaulo, J. Raymond, additional, Domenici, Enrico, additional, Domschke, Katharina, additional, Esko, Tõnu, additional, Grabe, Hans J., additional, Hamilton, Steven P., additional, Hayward, Caroline, additional, Heath, Andrew C., additional, Kendler, Kenneth S., additional, Kloiber, Stefan, additional, Lewis, Glyn, additional, Li, Qingqin S., additional, Lucae, Susanne, additional, Madden, Pamela A.F., additional, Magnusson, Patrik K., additional, Martin, Nicholas G., additional, Metspalu, Andres, additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Müller-Myhsok, Bertram, additional, Nordentoft, Merete, additional, Nöthen, Markus M., additional, O'Donovan, Michael C., additional, Paciga, Sara A., additional, Pedersen, Nancy L., additional, Penninx, Brenda W.J.H., additional, Perlis, Roy H., additional, Porteous, David J., additional, Potash, James B., additional, Preisig, Martin, additional, Rietschel, Marcella, additional, Schaefer, Catherine, additional, Schulze, Thomas G., additional, Smoller, Jordan W., additional, Stefansson, Kari, additional, Tiemeier, Henning, additional, Uher, Rudolf, additional, Völzke, Henry, additional, Weissman, Myrna M., additional, Werge, Thomas, additional, Lewis, Cathryn M., additional, Levinson, Douglas F., additional, Breen, Gerome, additional, Børglum, Anders D., additional, Sullivan, Patrick F., additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Hinds, David A., additional, Huber, Karen E., additional, Kleinman, Aaron, additional, Litterman, Nadia K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, Mountain, Joanna L., additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Sathirapongsasuti, J. Fah, additional, Sazonova, Olga V., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Vacic, Vladimir, additional, and Wilson, Catherine H., additional
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- 2019
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31. Correction : Common variant burden contributes to the familial aggregation of migraine in 1,589 families
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Gormley, Padhraig, Kurki, Mitja, Hiekkala, Marjo Eveliina, Veerapen, Kumar, Häppölä, Paavo, Mitchell, Adele A., Lal, Dennis, Palta, Priit, Surakka, Ida, Hamalainen, Eija, Vepsäläinen, Salli, Havanka, Hannele, Harno, Hanna, Ilmavirta, Matti, Nissilä, Markku, Säkö, Erkki, Sumelahti, Marja Liisa, Liukkonen, Jarmo, Sillanpää, Matti, Metsähonkala, Liisa, Koskinen, Seppo, Lehtimäki, Terho, Raitakari, Olli, Männikkö, Minna, Ran, Caroline, Jousilahti, Pekka, Anttila, Verneri, Salomaa, Veikko, Artto, Ville, Färkkilä, Markus, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nick, Huber, Karen E., Kleinman, Aaron, Litterman, Nadia, McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Belin, Andrea Carmine, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel D., Frants, Rune R., Freilinger, Tobias, Griffiths, Lyn, Hansen, Thomas Folkmann, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Kallela, Mikko, Kaprio, Jaakko, Kaunisto, Mari, Kubisch, Christian, Kurth, Tobias, Launer, Lenore, Lessel, Davor, Ligthart, Lannie, van den Maagdenberg, Arn, Macaya, Alfons, Malik, Rainer, Mangino, Massimo, McMahon, George, Muller-Myhsok, Bertram, Neale, Benjamin M., Northover, Carrie, Nyholt, Dale R., Olesen, Jes, Palotie, Aarno, Pedersen, Linda, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Quaye, Lydia, Schürks, Markus, Sintas, Celia, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Strachan, David, Terwindt, Gisela, Vila-Pueyo, Marta, Wessman, Maija, Winsvold, Bendik S., Wrenthal, William, Zhao, Huiying, Zwart, John Anker, Runz, Heiko, Daly, Mark J., Ripatti, Samuli, Gormley, Padhraig, Kurki, Mitja, Hiekkala, Marjo Eveliina, Veerapen, Kumar, Häppölä, Paavo, Mitchell, Adele A., Lal, Dennis, Palta, Priit, Surakka, Ida, Hamalainen, Eija, Vepsäläinen, Salli, Havanka, Hannele, Harno, Hanna, Ilmavirta, Matti, Nissilä, Markku, Säkö, Erkki, Sumelahti, Marja Liisa, Liukkonen, Jarmo, Sillanpää, Matti, Metsähonkala, Liisa, Koskinen, Seppo, Lehtimäki, Terho, Raitakari, Olli, Männikkö, Minna, Ran, Caroline, Jousilahti, Pekka, Anttila, Verneri, Salomaa, Veikko, Artto, Ville, Färkkilä, Markus, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nick, Huber, Karen E., Kleinman, Aaron, Litterman, Nadia, McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Belin, Andrea Carmine, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel D., Frants, Rune R., Freilinger, Tobias, Griffiths, Lyn, Hansen, Thomas Folkmann, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Kallela, Mikko, Kaprio, Jaakko, Kaunisto, Mari, Kubisch, Christian, Kurth, Tobias, Launer, Lenore, Lessel, Davor, Ligthart, Lannie, van den Maagdenberg, Arn, Macaya, Alfons, Malik, Rainer, Mangino, Massimo, McMahon, George, Muller-Myhsok, Bertram, Neale, Benjamin M., Northover, Carrie, Nyholt, Dale R., Olesen, Jes, Palotie, Aarno, Pedersen, Linda, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Quaye, Lydia, Schürks, Markus, Sintas, Celia, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Strachan, David, Terwindt, Gisela, Vila-Pueyo, Marta, Wessman, Maija, Winsvold, Bendik S., Wrenthal, William, Zhao, Huiying, Zwart, John Anker, Runz, Heiko, Daly, Mark J., and Ripatti, Samuli
- Abstract
(Neuron 98, 743–753.e1–e4; May 16, 2018) In the original publication of this paper, the middle initial of Michael D. Ferrari's name was inadvertently left out. This has since been corrected online. The authors apologize for the error.
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- 2018
32. Common variant burden contributes to the familial aggregation of migraine in 1,589 families
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Gormley, Padhraig, Kurki, Mitja I., Hiekkala, Marjo Eveliina, Veerapen, Kumar, Häppölä, Paavo, Mitchell, Adele A., Lal, Dennis, Palta, Priit, Surakka, Ida, Kaunisto, Mari Anneli, Hamalainen, Eija, Vepsäläinen, Salli, Havanka, Hannele, Harno, Hanna, Ilmavirta, Matti, Nissilä, Markku, Säkö, Erkki, Sumelahti, Marja Liisa, Liukkonen, Jarmo, Sillanpää, Matti, Metsähonkala, Liisa, Koskinen, Seppo, Lehtimäki, Terho, Raitakari, Olli, Männikkö, Minna, Ran, Caroline, Belin, Andrea Carmine, Jousilahti, Pekka, Anttila, Verneri, Salomaa, Veikko, Artto, Ville, Färkkilä, Markus, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Griffiths, Lyn, Hansen, Thomas Folkmann, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Kallela, Mikko, Kaprio, Jaakko, Kubisch, Christian, Kurth, Tobias, Launer, Lenore, Lessel, Davor, Ligthart, Lannie, van den Maagdenberg, Arn, Macaya, Alfons, Malik, Rainer, Mangino, Massimo, McMahon, George, Muller-Myhsok, Bertram, Neale, Benjamin M., Nyholt, Dale R., Olesen, Jes, Palotie, Aarno, Pedersen, Linda, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Quaye, Lydia, Schürks, Markus, Sintas, Celia, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Strachan, David, Terwindt, Gisela, Vila-Pueyo, Marta, Wessman, Maija, Winsvold, Bendik S., Wrenthal, William, Zhao, Huiying, Zwart, John Anker, Runz, Heiko, Daly, Mark J., Ripatti, Samuli, Gormley, Padhraig, Kurki, Mitja I., Hiekkala, Marjo Eveliina, Veerapen, Kumar, Häppölä, Paavo, Mitchell, Adele A., Lal, Dennis, Palta, Priit, Surakka, Ida, Kaunisto, Mari Anneli, Hamalainen, Eija, Vepsäläinen, Salli, Havanka, Hannele, Harno, Hanna, Ilmavirta, Matti, Nissilä, Markku, Säkö, Erkki, Sumelahti, Marja Liisa, Liukkonen, Jarmo, Sillanpää, Matti, Metsähonkala, Liisa, Koskinen, Seppo, Lehtimäki, Terho, Raitakari, Olli, Männikkö, Minna, Ran, Caroline, Belin, Andrea Carmine, Jousilahti, Pekka, Anttila, Verneri, Salomaa, Veikko, Artto, Ville, Färkkilä, Markus, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Griffiths, Lyn, Hansen, Thomas Folkmann, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Kallela, Mikko, Kaprio, Jaakko, Kubisch, Christian, Kurth, Tobias, Launer, Lenore, Lessel, Davor, Ligthart, Lannie, van den Maagdenberg, Arn, Macaya, Alfons, Malik, Rainer, Mangino, Massimo, McMahon, George, Muller-Myhsok, Bertram, Neale, Benjamin M., Nyholt, Dale R., Olesen, Jes, Palotie, Aarno, Pedersen, Linda, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Quaye, Lydia, Schürks, Markus, Sintas, Celia, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Strachan, David, Terwindt, Gisela, Vila-Pueyo, Marta, Wessman, Maija, Winsvold, Bendik S., Wrenthal, William, Zhao, Huiying, Zwart, John Anker, Runz, Heiko, Daly, Mark J., and Ripatti, Samuli
- Abstract
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71–1.81, p = 1.7 × 10−109) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25–1.38, p = 7.2 × 10−17). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine. Gormley et al. use polygenic risk scores to show that common variation, captured by genome-wide association studies, in combination contributes to the aggregation of migraine in families. The results may have similar implications for other complex traits in general.
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- 2018
33. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
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Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V, Pütz, Benno, Dauvilliers, Yves, Stefani, Ambra, Högl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornelius G, Paulus, Walter, Trenkwalder, Claudia, Oertel, Wolfgang H, Hornyak, Magdolna, Teder-Laving, Maris, Metspalu, Andres, Hadjigeorgiou, Georgios M, Polo, Olli, Fietze, Ingo, Ross, Owen A, Wszolek, Zbigniew, Butterworth, Adam S, Soranzo, Nicole, Ouwehand, Willem H, Roberts, David J, Danesh, John, Allen, Richard P, Earley, Christopher J, Ondo, William G, Xiong, Lan, Montplaisir, Jacques, Gan-Or, Ziv, Perola, Markus, Vodicka, Pavel, Dina, Christian, Franke, Andre, Tittmann, Lukas, Stewart, Alexandre F R, Shah, Svati H, Gieger, Christian, Peters, Annette, Rouleau, Guy A, Berger, Klaus, Oexle, Konrad, Di Angelantonio, Emanuele, Hinds, David A, Müller-Myhsok, Bertram, Winkelmann, Juliane, Balkau, B, Ducimetière, P, Eschwège, E, Rancière, F, Alhenc-Gelas, F, Gallois, Y, Girault, A, Fumeron, F, Marre, M, Roussel, R, Bonnet, F, Bonnefond, A, Cauchi, S, Froguel, P, Cogneau, J, Born, C, Caces, E, Cailleau, M, Lantieri, O, Moreau, JG, Rakotozafy, F, Tichet, J, Vol, S, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K, Bryc, Katarzyna, Elson, Sarah L, Fontanillas, Pierre, Furlotte, Nicholas A, Hromatka, Bethann S, Huber, Karen E, Kleinman, Aaron, Litterman, Nadia K, McIntyre, Matthew H, Mountain, Joanna L, Northover, Carrie AM, Pitts, Steven J, Sathirapongsasuti, J Fah, Sazonova, Olga V, Shelton, Janie F, Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y, Vacic, Vladimir, and Wilson, Catherine H
- Abstract
Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. Methods In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10−8) were tested for replication in an independent GWAS of 30 770 cases and 286 913 controls, followed by a joint analysis of the discovery and replication stages. We did gene annotation, pathway, and gene-set-enrichment analyses and studied the genetic correlations between restless legs syndrome and traits of interest. Findings We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85–1·99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Interpretation Identification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations.
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- 2017
34. Statistical discrimination of flat glass fragments by instrumental neutron activation analysis methods for forensic science applications.
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Pitts, Steven J. and Kratochvil, Byron
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Glass -- Analysis ,Radioactivation analysis -- Methods - Published
- 1991
35. Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2
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van den Akker, Erik B., Pitts, Steven J., Deelen, Joris, Moed, Matthijs H., Potluri, Shobha, van Rooij, Jeroen, Suchiman, H. Eka D., Lakenberg, Nico, de Dijcker, Wesley J., Uitterlinden, André G., Kraaij, Robert, Hofman, Albert, de Craen, Anton J.M., Houwing-Duistermaat, Jeanine J., van Ommen, Gert-Jan B., Cox, David R., van Meurs, Joyce B.J., Beekman, Marian, Reinders, Marcel J.T., and Slagboom, P. Eline
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- 2016
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36. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families
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Gormley, Padhraig, primary, Kurki, Mitja I., additional, Hiekkala, Marjo Eveliina, additional, Veerapen, Kumar, additional, Häppölä, Paavo, additional, Mitchell, Adele A., additional, Lal, Dennis, additional, Palta, Priit, additional, Surakka, Ida, additional, Kaunisto, Mari Anneli, additional, Hämäläinen, Eija, additional, Vepsäläinen, Salli, additional, Havanka, Hannele, additional, Harno, Hanna, additional, Ilmavirta, Matti, additional, Nissilä, Markku, additional, Säkö, Erkki, additional, Sumelahti, Marja-Liisa, additional, Liukkonen, Jarmo, additional, Sillanpää, Matti, additional, Metsähonkala, Liisa, additional, Koskinen, Seppo, additional, Lehtimäki, Terho, additional, Raitakari, Olli, additional, Männikkö, Minna, additional, Ran, Caroline, additional, Belin, Andrea Carmine, additional, Jousilahti, Pekka, additional, Anttila, Verneri, additional, Salomaa, Veikko, additional, Artto, Ville, additional, Färkkilä, Markus, additional, Runz, Heiko, additional, Daly, Mark J., additional, Neale, Benjamin M., additional, Ripatti, Samuli, additional, Kallela, Mikko, additional, Wessman, Maija, additional, Palotie, Aarno, additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Huber, Karen E., additional, Kleinman, Aaron, additional, Litterman, Nadia K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, Mountain, Joanna L., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Sathirapongsasuti, J. Fah, additional, Sazonova, Olga V., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Vacic, Vladimir, additional, Wilson, Catherine H., additional, Boomsma, Dorret I., additional, Børte, Sigrid, additional, Chasman, Daniel I., additional, Cherkas, Lynn, additional, Christensen, Anne Francke, additional, Cormand, Bru, additional, Cuenca-Leon, Ester, additional, Davey-Smith, George, additional, Dichgans, Martin, additional, van Duijn, Cornelia, additional, Esko, Tonu, additional, Esserlind, Ann-Louise, additional, Ferrari, Michel D., additional, Frants, Rune R., additional, Freilinger, Tobias, additional, Furlotte, Nick, additional, Gormley, Padhraig, additional, Griffiths, Lyn, additional, Hamalainen, Eija, additional, Hansen, Thomas Folkmann, additional, Hiekkala, Marjo, additional, Ikram, M Arfan, additional, Ingason, Andres, additional, Järvelin, Marjo-Riitta, additional, Kajanne, Risto, additional, Kaprio, Jaakko, additional, Kaunisto, Mari, additional, Kubisch, Christian, additional, Kurki, Mitja, additional, Kurth, Tobias, additional, Launer, Lenore, additional, Lehtimaki, Terho, additional, Lessel, Davor, additional, Ligthart, Lannie, additional, Litterman, Nadia, additional, van den Maagdenberg, Arn, additional, Macaya, Alfons, additional, Malik, Rainer, additional, Mangino, Massimo, additional, McMahon, George, additional, Muller-Myhsok, Bertram, additional, Northover, Carrie, additional, Nyholt, Dale R., additional, Olesen, Jes, additional, Pedersen, Linda, additional, Pedersen, Nancy, additional, Posthuma, Danielle, additional, Pozo-Rosich, Patricia, additional, Pressman, Alice, additional, Quaye, Lydia, additional, Schürks, Markus, additional, Sintas, Celia, additional, Stefansson, Kari, additional, Stefansson, Hreinn, additional, Steinberg, Stacy, additional, Strachan, David, additional, Terwindt, Gisela, additional, Vila-Pueyo, Marta, additional, Winsvold, Bendik S., additional, Wrenthal, William, additional, Zhao, Huiying, additional, and Zwart, John-Anker, additional
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- 2018
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37. Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
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Shaffer, John R., primary, Li, Jinxi, additional, Lee, Myoung Keun, additional, Roosenboom, Jasmien, additional, Orlova, Ekaterina, additional, Adhikari, Kaustabh, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Schuler-Faccini, Lavinia, additional, Bortolini, Maria-Cátira, additional, Canizales-Quinteros, Samuel, additional, Rothhammer, Francisco, additional, Bedoya, Gabriel, additional, González-José, Rolando, additional, Pfeffer, Paige E., additional, Wollenschlaeger, Christopher A., additional, Hecht, Jacqueline T., additional, Wehby, George L., additional, Moreno, Lina M., additional, Ding, Anan, additional, Jin, Li, additional, Yang, Yajun, additional, Carlson, Jenna C., additional, Leslie, Elizabeth J., additional, Feingold, Eleanor, additional, Marazita, Mary L., additional, Hinds, David A., additional, Cox, Timothy C., additional, Wang, Sijia, additional, Ruiz-Linares, Andrés, additional, Weinberg, Seth M., additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Hromatka, Bethann S., additional, Huber, Karen E., additional, Kleinman, Aaron, additional, Litterman, Nadia K., additional, McIntyre, Matthew H., additional, Mountain, Joanna L., additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Sathirapongsasuti, J. Fah, additional, Sazonova, Olga V., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Vacic, Vladimir, additional, and Wilson, Catherine H., additional
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- 2017
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38. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
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Schormair, Barbara, primary, Zhao, Chen, additional, Bell, Steven, additional, Tilch, Erik, additional, Salminen, Aaro V, additional, Pütz, Benno, additional, Dauvilliers, Yves, additional, Stefani, Ambra, additional, Högl, Birgit, additional, Poewe, Werner, additional, Kemlink, David, additional, Sonka, Karel, additional, Bachmann, Cornelius G, additional, Paulus, Walter, additional, Trenkwalder, Claudia, additional, Oertel, Wolfgang H, additional, Hornyak, Magdolna, additional, Teder-Laving, Maris, additional, Metspalu, Andres, additional, Hadjigeorgiou, Georgios M, additional, Polo, Olli, additional, Fietze, Ingo, additional, Ross, Owen A, additional, Wszolek, Zbigniew, additional, Butterworth, Adam S, additional, Soranzo, Nicole, additional, Ouwehand, Willem H, additional, Roberts, David J, additional, Danesh, John, additional, Allen, Richard P, additional, Earley, Christopher J, additional, Ondo, William G, additional, Xiong, Lan, additional, Montplaisir, Jacques, additional, Gan-Or, Ziv, additional, Perola, Markus, additional, Vodicka, Pavel, additional, Dina, Christian, additional, Franke, Andre, additional, Tittmann, Lukas, additional, Stewart, Alexandre F R, additional, Shah, Svati H, additional, Gieger, Christian, additional, Peters, Annette, additional, Rouleau, Guy A, additional, Berger, Klaus, additional, Oexle, Konrad, additional, Di Angelantonio, Emanuele, additional, Hinds, David A, additional, Müller-Myhsok, Bertram, additional, Winkelmann, Juliane, additional, Balkau, B, additional, Ducimetière, P, additional, Eschwège, E, additional, Rancière, F, additional, Alhenc-Gelas, F, additional, Gallois, Y, additional, Girault, A, additional, Fumeron, F, additional, Marre, M, additional, Roussel, R, additional, Bonnet, F, additional, Bonnefond, A, additional, Cauchi, S, additional, Froguel, P, additional, Cogneau, J, additional, Born, C, additional, Caces, E, additional, Cailleau, M, additional, Lantieri, O, additional, Moreau, JG, additional, Rakotozafy, F, additional, Tichet, J, additional, Vol, S, additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K, additional, Bryc, Katarzyna, additional, Elson, Sarah L, additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A, additional, Hromatka, Bethann S, additional, Huber, Karen E, additional, Kleinman, Aaron, additional, Litterman, Nadia K, additional, McIntyre, Matthew H, additional, Mountain, Joanna L, additional, Northover, Carrie AM, additional, Pitts, Steven J, additional, Sathirapongsasuti, J Fah, additional, Sazonova, Olga V, additional, Shelton, Janie F, additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y, additional, Vacic, Vladimir, additional, and Wilson, Catherine H, additional
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- 2017
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39. Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
- Author
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Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, and Bovenberg, Jasper A.
- Abstract
Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (∼35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value -4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect (βLDL-C =0.135, βTC =0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR.
- Published
- 2015
40. Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
- Author
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CMM Groep Kaaij, CMM Groep Kloosterman, Child Health, Cancer, ZL Neuromusculaire Ziekten Medisch, Experimentele Afd. Cardiologie 1, CMM Groep Cuppen, JC onderzoeksprogramma Methodologie, Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., de Bakker, Paul I W, CMM Groep Kaaij, CMM Groep Kloosterman, Child Health, Cancer, ZL Neuromusculaire Ziekten Medisch, Experimentele Afd. Cardiologie 1, CMM Groep Cuppen, JC onderzoeksprogramma Methodologie, Van Leeuwen, Elisabeth M., Karssen, Lennart C., Deelen, Joris, Isaacs, Aaron, Medina-Gomez, Carolina, Mbarek, Hamdi, Kanterakis, Alexandros, Trompet, Stella, Postmus, Iris, Verweij, Niek, Van Enckevort, David J., Huffman, Jennifer E., White, Charles C., Feitosa, Mary F., Bartz, Traci M., Manichaikul, Ani, Joshi, Peter K., Peloso, Gina M., Deelen, Patrick, Van Dijk, Freerk, Willemsen, Gonneke, De Geus, Eco J., Milaneschi, Yuri, Penninx, Brenda W J H, Francioli, Laurent C., Menelaou, Androniki, Pulit, Sara L., Rivadeneira, Fernando, Hofman, Albert, Oostra, Ben A., Franco, Oscar H., Leach, Irene Mateo, Beekman, Marian, De Craen, Anton J M, Uh, Hae Won, Trochet, Holly, Hocking, Lynne J., Porteous, David J., Sattar, Naveed, Packard, Chris J., Buckley, Brendan M., Brody, Jennifer A., Bis, Joshua C., Rotter, Jerome I., Mychaleckyj, Josyf C., Campbell, Harry, Duan, Qing, Lange, Leslie A., Wilson, James F., Hayward, Caroline, Polasek, Ozren, Vitart, Veronique, Rudan, Igor, Wright, Alan F., Rich, Stephen S., Psaty, Bruce M., Borecki, Ingrid B., Kearney, Patricia M., Stott, David J., Cupples, L. Adrienne, Jukema, J. Wouter, Van Der Harst, Pim, Sijbrands, Eric J., Hottenga, Jouke Jan, Uitterlinden, Andre G., Swertz, Morris A., Van Ommen, Gert Jan B, De Bakker, Paul I W, Eline Slagboom, P., Boomsma, Dorret I., Wijmenga, Cisca, Van Duijn, Cornelia M., Neerincx, Pieter B T, Elbers, Clara C., Palamara, Pier Francesco, Peer, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F J, Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Veldink, Jan H., Van Den Berg, Leonard H., Byelas, Heorhiy, Den Dunnen, Johan T., Dijkstra, Martijn, Amin, Najaf, Van Der Velde, K. Joeri, Van Setten, Jessica, Kattenberg, Mathijs, Van Schaik, Barbera D C, Bot, Jan, Nijman, Isaäc J., Mei, Hailiang, Koval, Vyacheslav, Ye, Kai, Lameijer, Eric Wubbo, Moed, Matthijs H., Hehir-Kwa, Jayne Y., Handsaker, Robert E., Sunyaev, Shamil R., Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Suchiman, H. Eka D, Wolffenbuttel, Bruce H., Platteel, Mathieu, Pitts, Steven J., Potluri, Shobha, Cox, David R., Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., and de Bakker, Paul I W
- Published
- 2015
41. Whole-genome sequence variation, population structure and demographic history of the Dutch population
- Author
-
Francioli, Laurent C., Menelaou, Andronild, Pulit, Sara L., Van Dijk, Freerk, Palamara, Pier Francesco, Elbers, Clara C., Neerincx, Pieter B. T., Ye, Kai, Guryev, Victor, Kloosterman, Wigard P., Deelen, Patrick, Abdellaoui, Abdel, Van Leeuwen, Elisabeth M., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F. J., Karssen, Lennart C., Kanterakis, Alexandros, Amin, Najaf, Hottenga, Jouke Jan, Lameijer, Eric-Wubbo, Kattenberg, Mathijs, Dijkstra, Martijn, Byelas, Heorhiy, Van Settenl, Jessica, Van Schaik, Barbera D. C., Bot, Jan, Nijman, Isaac J., Renkens, Ivo, Marscha, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Hormozdiari, Fereydoun, Van Enckevort, David, Mei, Hailiang, Koval, Vyacheslav, Moed, Ma-Tthijs H., Van der Velde, K. Joeri, Rivadeneira, Fernando, Estrada, Karol, Medina-Gomez, Carolina, Isaacs, Aaron, McCarroll, Steven A., Beekrnan, Marian, De Craen, Anton J. M., Suchiman, H. Eka D., Hofman, Albert, Oostra, Ben, Uitterlinden, Andre G., Willemsen, Gonneke, Plattee, Mathieu, Veldink, Jan H., Van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., Sunyaev, Shamil R., Den Dunnen, Johan T., Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., Peer, Itsik, Slagboom, P. Eline, Van Duijn, Cornelia M., Boomsma, Dorret I., Van Ommen, Gert-Jan B., De Bakker, Paul I. W., Swertz, Morris A., Wijmenga, Cisca, Francioli, Laurent C., Menelaou, Andronild, Pulit, Sara L., Van Dijk, Freerk, Palamara, Pier Francesco, Elbers, Clara C., Neerincx, Pieter B. T., Ye, Kai, Guryev, Victor, Kloosterman, Wigard P., Deelen, Patrick, Abdellaoui, Abdel, Van Leeuwen, Elisabeth M., Van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen F. J., Karssen, Lennart C., Kanterakis, Alexandros, Amin, Najaf, Hottenga, Jouke Jan, Lameijer, Eric-Wubbo, Kattenberg, Mathijs, Dijkstra, Martijn, Byelas, Heorhiy, Van Settenl, Jessica, Van Schaik, Barbera D. C., Bot, Jan, Nijman, Isaac J., Renkens, Ivo, Marscha, Tobias, Schonhuth, Alexander, Hehir-Kwa, Jayne Y., Handsaker, Robert E., Polak, Paz, Sohail, Mashaal, Vuzman, Dana, Hormozdiari, Fereydoun, Van Enckevort, David, Mei, Hailiang, Koval, Vyacheslav, Moed, Ma-Tthijs H., Van der Velde, K. Joeri, Rivadeneira, Fernando, Estrada, Karol, Medina-Gomez, Carolina, Isaacs, Aaron, McCarroll, Steven A., Beekrnan, Marian, De Craen, Anton J. M., Suchiman, H. Eka D., Hofman, Albert, Oostra, Ben, Uitterlinden, Andre G., Willemsen, Gonneke, Plattee, Mathieu, Veldink, Jan H., Van den Berg, Leonard H., Pitts, Steven J., Potluri, Shobha, Sundar, Purnima, Cox, David R., Sunyaev, Shamil R., Den Dunnen, Johan T., Stoneking, Mark, De Knijff, Peter, Kayser, Manfred, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A., Peer, Itsik, Slagboom, P. Eline, Van Duijn, Cornelia M., Boomsma, Dorret I., Van Ommen, Gert-Jan B., De Bakker, Paul I. W., Swertz, Morris A., and Wijmenga, Cisca
- Published
- 2014
42. Immunoglobulin class-switched B cells form an active immune axis between CNS and periphery in multiple sclerosis
- Author
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Palanichamy, Arumugam, primary, Apeltsin, Leonard, additional, Kuo, Tracy C., additional, Sirota, Marina, additional, Wang, Shengzhi, additional, Pitts, Steven J., additional, Sundar, Purnima D., additional, Telman, Dilduz, additional, Zhao, Lora Z., additional, Derstine, Mia, additional, Abounasr, Aya, additional, Hauser, Stephen L., additional, and von Büdingen, H.-Christian, additional
- Published
- 2014
- Full Text
- View/download PDF
43. Aging as Accelerated Accumulation of Somatic Variants: Whole-Genome Sequencing of Centenarian and Middle-Aged Monozygotic Twin Pairs
- Author
-
Ye, Kai, primary, Beekman, Marian, additional, Lameijer, Eric-Wubbo, additional, Zhang, Yanju, additional, Moed, Matthijs H., additional, van den Akker, Erik B., additional, Deelen, Joris, additional, Houwing-Duistermaat, Jeanine J., additional, Kremer, Dennis, additional, Anvar, Seyed Yahya, additional, Laros, Jeroen F. J., additional, Jones, David, additional, Raine, Keiran, additional, Blackburne, Ben, additional, Potluri, Shobha, additional, Long, Quan, additional, Guryev, Victor, additional, van der Breggen, Ruud, additional, Westendorp, Rudi G. J., additional, ‘t Hoen, Peter A. C., additional, den Dunnen, Johan, additional, van Ommen, Gert Jan B., additional, Willemsen, Gonneke, additional, Pitts, Steven J., additional, Cox, David R., additional, Ning, Zemin, additional, Boomsma, Dorret I., additional, and Slagboom, P. Eline, additional
- Published
- 2013
- Full Text
- View/download PDF
44. Resequencing of Nicotinic Acetylcholine Receptor Genes and Association of Common and Rare Variants with the Fagerström Test for Nicotine Dependence
- Author
-
Wessel, Jennifer, primary, McDonald, Sarah M, additional, Hinds, David A, additional, Stokowski, Renee P, additional, Javitz, Harold S, additional, Kennemer, Michael, additional, Krasnow, Ruth, additional, Dirks, William, additional, Hardin, Jill, additional, Pitts, Steven J, additional, Michel, Martha, additional, Jack, Lisa, additional, Ballinger, Dennis G, additional, McClure, Jennifer B, additional, Swan, Gary E, additional, and Bergen, Andrew W, additional
- Published
- 2010
- Full Text
- View/download PDF
45. A diagrammatic theory of time correlation functions of facilitated kinetic Ising models
- Author
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Pitts, Steven J., primary and Andersen, Hans C., additional
- Published
- 2001
- Full Text
- View/download PDF
46. Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3Aand TET2
- Author
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van den Akker, Erik B., Pitts, Steven J., Deelen, Joris, Moed, Matthijs H., Potluri, Shobha, van Rooij, Jeroen, Suchiman, H. Eka D., Lakenberg, Nico, de Dijcker, Wesley J., Uitterlinden, André G., Kraaij, Robert, Hofman, Albert, de Craen, Anton J.M., Houwing-Duistermaat, Jeanine J., van Ommen, Gert-Jan B., Cox, David R., van Meurs, Joyce B.J., Beekman, Marian, Reinders, Marcel J.T., and Slagboom, P. Eline
- Published
- 2016
- Full Text
- View/download PDF
47. Facilitated spin models, mode coupling theory, and ergodic–nonergodic transitions
- Author
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Pitts, Steven J., primary, Young, Thomas, additional, and Andersen, Hans C., additional
- Published
- 2000
- Full Text
- View/download PDF
48. The meaning of the irreducible memory function in stochastic theories of dynamics with detailed balance
- Author
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Pitts, Steven J., primary and Andersen, Hans C., additional
- Published
- 2000
- Full Text
- View/download PDF
49. A framework for the detection of de novo mutations in family-based sequencing data
- Author
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Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Wijmenga, Cisca, Investigator, Principal, Swertz, Morris A, van Duijn, Cornelia M, Boomsma, Dorret I, Slagboom, PEline, van Ommen, Gertjan B, de Bakker, Paul IW, van Dijk, Freerk, Menelaou, Androniki, Neerincx, Pieter BT, Pulit, Sara L, Deelen, Patrick, Elbers, Clara C, Francesco Palamara, Pier, Pe'er, Itsik, Abdellaoui, Abdel, van Oven, Mannis, Vermaat, Martijn, Li, Mingkun, Laros, Jeroen FJ, Stoneking, Mark, de Knijff, Peter, Kayser, Manfred, Veldink, Jan H, van den Berg, Leonard H, Byelas, Heorhiy, den Dunnen, Johan T, Dijkstra, Martijn, Amin, Najaf, van der Velde, K Joeri, Hottenga, Jouke Jan, van Setten, Jessica, van Leeuwen, Elisabeth M, Kanterakis, Alexandros, Kattenberg, Mathijs, Karssen, Lennart C, van Schaik, Barbera DC, Bot, Jan, Nijman, Isaäc J, Renkens, Ivo, van Enckevort, David, Mei, Hailiang, Koval, Vyacheslav, Estrada, Karol, Medina-Gomez, Carolina, Ye, Kai, Lameijer, Eric-Wubbo, Moed, Matthijs H, Hehir-Kwa, Jayne Y, Handsaker, Robert E, McCarroll, Steven A, Sunyaev, Shamil R, Polak, Paz, Vuzman, Dana, Sohail, Mashaal, Hormozdiari, Fereydoun, Marschall, Tobias, Schönhuth, Alexander, Guryev, Victor, Slagboom, P Eline, Beekman, Marian B, de Craen, Anton JM, Suchiman, H Eka D, Hofman, Albert, Oostra, Ben, Isaacs, Aaron, Rivadeneira, Fernando, Uitterlinden, André G, Willemsen, Gonneke, Platteel, Mathieu, Pitts, Steven J, Potluri, Shobha, Sundar, Purnima, Cox, David R, Li, Qibin, Li, Yingrui, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Li, Ning, Cao, Sujie, Wang, Jun, Bovenberg, Jasper A, Brandsma, Margreet, Samocha, Kaitlin E, Neale, Benjamin M, Daly, Mark J, Banks, Eric, and DePristo, Mark A
- Abstract
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from sequence data collected in parent-offspring trios. We compute the joint probability of the data given the genotype likelihoods in the individual family members, the known familial relationships and a prior probability for the mutation rate. Candidate de novo mutations (DNMs) are reported along with their posterior probability, providing a systematic way to prioritize them for validation. Our tool is integrated in the Genome Analysis Toolkit and can be used together with the ReadBackedPhasing module to infer the parental origin of DNMs based on phase-informative reads. Using simulated data, we show that PBT outperforms existing tools, especially in low coverage data and on the X chromosome. We further show that PBT displays high validation rates on empirical parent-offspring sequencing data for whole-exome data from 104 trios and X-chromosome data from 249 parent-offspring families. Finally, we demonstrate an association between father's age at conception and the number of DNMs in female offspring's X chromosome, consistent with previous literature reports.
- Published
- 2016
- Full Text
- View/download PDF
50. Analysis and Classification of Common Vegetable Oils.
- Author
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Pitts, Steven J. and Thomson, Cameron I.
- Subjects
- *
FATTY acids , *VEGETABLE oils , *FORENSIC sciences - Abstract
Examines the analysis of fatty acids from common vegetable oils for application to forensic casework. Classification of the vegetable oils; Transesterification of the fatty acids to fatty acid methyl esters; Use of gas chromatography-mass spectrometry.
- Published
- 2003
- Full Text
- View/download PDF
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