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1. An integrated map of structural variation in 2,504 human genomes.

Author

Sudmant, Peter H, Rausch, Tobias, Gardner, Eugene J, Handsaker, Robert E, Abyzov, Alexej, Huddleston, John, Zhang, Yan, Ye, Kai, Jun, Goo, Fritz, Markus Hsi-Yang, Konkel, Miriam K, Malhotra, Ankit, Stütz, Adrian M, Shi, Xinghua, Casale, Francesco Paolo, Chen, Jieming, Hormozdiari, Fereydoun, Dayama, Gargi, Chen, Ken, Malig, Maika, Chaisson, Mark JP, Walter, Klaudia, Meiers, Sascha, Kashin, Seva, Garrison, Erik, Auton, Adam, Lam, Hugo YK, Mu, Xinmeng Jasmine, Alkan, Can, Antaki, Danny, Bae, Taejeong, Cerveira, Eliza, Chines, Peter, Chong, Zechen, Clarke, Laura, Dal, Elif, Ding, Li, Emery, Sarah, Fan, Xian, Gujral, Madhusudan, Kahveci, Fatma, Kidd, Jeffrey M, Kong, Yu, Lameijer, Eric-Wubbo, McCarthy, Shane, Flicek, Paul, Gibbs, Richard A, Marth, Gabor, Mason, Christopher E, Menelaou, Androniki, Muzny, Donna M, Nelson, Bradley J, Noor, Amina, Parrish, Nicholas F, Pendleton, Matthew, Quitadamo, Andrew, Raeder, Benjamin, Schadt, Eric E, Romanovitch, Mallory, Schlattl, Andreas, Sebra, Robert, Shabalin, Andrey A, Untergasser, Andreas, Walker, Jerilyn A, Wang, Min, Yu, Fuli, Zhang, Chengsheng, Zhang, Jing, Zheng-Bradley, Xiangqun, Zhou, Wanding, Zichner, Thomas, Sebat, Jonathan, Batzer, Mark A, McCarroll, Steven A, 1000 Genomes Project Consortium, Mills, Ryan E, Gerstein, Mark B, Bashir, Ali, Stegle, Oliver, Devine, Scott E, Lee, Charles, Eichler, Evan E, and Korbel, Jan O

Subjects
Genomes Project Consortium, Humans, Genetic Predisposition to Disease, Physical Chromosome Mapping, Sequence Analysis, DNA, Genetics, Medical, Genetics, Population, Genomics, Sequence Deletion, Amino Acid Sequence, Genotype, Haplotypes, Homozygote, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome, Human, Molecular Sequence Data, Genetic Variation, Genome-Wide Association Study, Mutation Rate, Sequence Analysis, DNA, Genetics, Medical, Population, Polymorphism, Single Nucleotide, Genome, Human, General Science & Technology
Abstract

Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. Our catalogue will enhance future studies into structural variant demography, functional impact and disease association.

Published
2015

2. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Author

Jostins, Luke, Ripke, Stephan, Weersma, Rinse K, Duerr, Richard H, McGovern, Dermot P, Hui, Ken Y, Lee, James C, Philip Schumm, L, Sharma, Yashoda, Anderson, Carl A, Essers, Jonah, Mitrovic, Mitja, Ning, Kaida, Cleynen, Isabelle, Theatre, Emilie, Spain, Sarah L, Raychaudhuri, Soumya, Goyette, Philippe, Wei, Zhi, Abraham, Clara, Achkar, Jean-Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N, Andersen, Vibeke, Andrews, Jane M, Baidoo, Leonard, Balschun, Tobias, Bampton, Peter A, Bitton, Alain, Boucher, Gabrielle, Brand, Stephan, Büning, Carsten, Cohain, Ariella, Cichon, Sven, D’Amato, Mauro, De Jong, Dirk, Devaney, Kathy L, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Ferguson, Lynnette R, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hedl, Matija, Hu, Xinli, Karlsen, Tom H, Kupcinskas, Limas, Kugathasan, Subra, Latiano, Anna, Laukens, Debby, Lawrance, Ian C, Lees, Charlie W, Louis, Edouard, Mahy, Gillian, Mansfield, John, Morgan, Angharad R, Mowat, Craig, Newman, William, Palmieri, Orazio, Ponsioen, Cyriel Y, Potocnik, Uros, Prescott, Natalie J, Regueiro, Miguel, Rotter, Jerome I, Russell, Richard K, Sanderson, Jeremy D, Sans, Miquel, Satsangi, Jack, Schreiber, Stefan, Simms, Lisa A, Sventoraityte, Jurgita, Targan, Stephan R, Taylor, Kent D, Tremelling, Mark, Verspaget, Hein W, De Vos, Martine, Wijmenga, Cisca, Wilson, David C, Winkelmann, Juliane, Xavier, Ramnik J, Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K, Zhao, Hongyu, Silverberg, Mark S, Annese, Vito, Hakonarson, Hakon, Brant, Steven R, Radford-Smith, Graham, Mathew, Christopher G, Rioux, John D, and Schadt, Eric E

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Digestive Diseases, Human Genome, Inflammatory Bowel Disease, Biotechnology, Autoimmune Disease, Crohn's Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Oral and gastrointestinal, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Haplotypes, Host-Pathogen Interactions, Humans, Inflammatory Bowel Diseases, Mycobacterium, Mycobacterium Infections, Mycobacterium tuberculosis, Phenotype, Polymorphism, Single Nucleotide, Reproducibility of Results, International IBD Genetics Consortium, General Science & Technology
Abstract

Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations. Genome-wide association studies and subsequent meta-analyses of these two diseases as separate phenotypes have implicated previously unsuspected mechanisms, such as autophagy, in their pathogenesis and showed that some IBD loci are shared with other inflammatory diseases. Here we expand on the knowledge of relevant pathways by undertaking a meta-analysis of Crohn's disease and ulcerative colitis genome-wide association scans, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. We identify 71 new associations, for a total of 163 IBD loci, that meet genome-wide significance thresholds. Most loci contribute to both phenotypes, and both directional (consistently favouring one allele over the course of human history) and balancing (favouring the retention of both alleles within populations) selection effects are evident. Many IBD loci are also implicated in other immune-mediated disorders, most notably with ankylosing spondylitis and psoriasis. We also observe considerable overlap between susceptibility loci for IBD and mycobacterial infection. Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD.

Published
2012

3. CD47-blocking antibodies restore phagocytosis and prevent atherosclerosis

Author

Kojima, Yoko, Volkmer, Jens-Peter, McKenna, Kelly, Civelek, Mete, Lusis, Aldons Jake, Miller, Clint L., Direnzo, Daniel, Nanda, Vivek, Ye, Jianqin, Connolly, Andrew J., Schadt, Eric E., Quertermous, Thomas, Betancur, Paola, Maegdefessel, Lars, Matic, Ljubica Perisic, Hedin, Ulf, Weissman, Irving L., and Leeper, Nicholas J.

Subjects
Viral antibodies -- Research -- Health aspects, Apoptosis -- Analysis, Antibodies -- Research -- Health aspects, Atherosclerosis -- Prevention -- Analysis, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Atherosclerosis is the disease process that underlies heart attack and stroke (1). Advanced lesions at risk of rupture are characterized by the pathological accumulation of diseased vascular cells and apoptotic cellular debris (2). Why these cells are not cleared remains unknown (3). Here we show that atherogenesis is associated with upregulation of CD47, a key anti-phagocytic molecule that is known to render malignant cells resistant to programmed cell removal, or 'efferocytosis' (4-7). We find that administration of CD47-blocking antibodies reverses this defect in efferocytosis, normalizes the clearance of diseased vascular tissue, and ameliorates atherosclerosis in multiple mouse models. Mechanistic studies implicate the pro-atherosclerotic factor TNF-α as a fundamental driver of impaired programmed cell removal, explaining why this process is compromised in vascular disease. Similar to recent observations in cancer (5), impaired efferocytosis appears to play a pathogenic role in cardiovascular disease, but is not a fixed defect and may represent a novel therapeutic target., Each day the human body turns over more than 100 billion cells (8). To prevent the inflammatory consequences associated with the accumulation of apoptotic debris (9), these cells are rapidly [...]

Published
2016

4. Genetic studies of body mass index yield new insights for obesity biology

Author

Locke, Adam E., Kahali, Bratati, Berndt, Sonja I., Justice, Anne E., Pers, Tune H., Day, Felix R., Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L., Yang, Jian, Croteau-Chonka, Damien C., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jianʼan, Mägi, Reedik, Randall, Joshua C., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Faul, Jessica D., Smith, Jennifer A., Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K., Karjalainen, Juha, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L., Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B., Feenstra, Bjarke, Feitosa, Mary F., Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U., Kanoni, Stavroula, Kleber, Marcus E., Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Medland, Sarah E., Nalls, Michael A., Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Shungin, Dmitry, Stančáková, Alena, Strawbridge, Rona J., Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W., van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V., Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Isaacs, Aaron, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Attwood, Antony P., Bandinelli, Stefania, Barrett, Amy, Bas, Isabelita N., Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blagieva, Roza, Blüher, Matthias, Böhringer, Stefan, Bonnycastle, Lori L., Böttcher, Yvonne, Boyd, Heather A., Bruinenberg, Marcel, Caspersen, Ida H., Ida Chen, Yii-Der, Clarke, Robert, Warwick Daw, E., de Craen, Anton J. M., Delgado, Graciela, Dimitriou, Maria, Doney, Alex S. F., Eklund, Niina, Estrada, Karol, Eury, Elodie, Folkersen, Lasse, Fraser, Ross M., Garcia, Melissa E., Geller, Frank, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Goodall, Alison H., Gordon, Scott D., Gorski, Mathias, Grabe, Hans-Jörgen, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grönberg, Henrik, Groves, Christopher J., Gusto, Gaëlle, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L., Helmer, Quinta, Hengstenberg, Christian, Holmen, Oddgeir, Hottenga, Jouke-Jan, James, Alan L., Jeff, Janina M., Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Kinnunen, Leena, Koenig, Wolfgang, Koskenvuo, Markku, Kratzer, Wolfgang, Laitinen, Jaana, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Sin Lo, Ken, Lobbens, Stéphane, Lorbeer, Roberto, Lu, Yingchang, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., McLachlan, Stela, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Moayyeri, Alireza, Monda, Keri L., Morken, Mario A., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Musk, Arthur W., Nagaraja, Ramaiah, Nöthen, Markus M., Nolte, Ilja M., Pilz, Stefan, Rayner, Nigel W., Renstrom, Frida, Rettig, Rainer, Ried, Janina S., Ripke, Stephan, Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Schumacher, Fredrick R., Scott, William R., Seufferlein, Thomas, Shi, Jianxin, Vernon Smith, Albert, Smolonska, Joanna, Stanton, Alice V., Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tan, Sian-Tsung, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tyrer, Jonathan P., Uh, Hae-Won, Vandenput, Liesbeth, Verhulst, Frank C., Vermeulen, Sita H., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Warren, Helen R., Waterworth, Dawn, Weedon, Michael N., Wilkens, Lynne R., Willenborg, Christina, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Wright, Alan F., Zhang, Qunyuan, Brennan, Eoin P., Choi, Murim, Dastani, Zari, Drong, Alexander W., Eriksson, Per, Franco-Cereceda, Anders, Gådin, Jesper R., Gharavi, Ali G., Goddard, Michael E., Handsaker, Robert E., Huang, Jinyan, Karpe, Fredrik, Kathiresan, Sekar, Keildson, Sarah, Kiryluk, Krzysztof, Kubo, Michiaki, Lee, Jong-Young, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McCarroll, Steven A., McKnight, Amy J., Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Okada, Yukinori, Perry, John R. B., Dorajoo, Rajkumar, Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Scott, Robert A., Stolk, Lisette, Takahashi, Atsushi, Tanaka, Toshihiro, vanʼt Hooft, Ferdinand M., Vinkhuyzen, Anna A. E., Westra, Harm-Jan, Zheng, Wei, Zondervan, Krina T., Heath, Andrew C., Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Bovet, Pascal, Campbell, Harry, Caulfield, Mark J., Cesana, Giancarlo, Chakravarti, Aravinda, Chasman, Daniel I., Chines, Peter S., Collins, Francis S., Crawford, Dana C., Adrienne Cupples, L., Cusi, Daniele, Danesh, John, de Faire, Ulf, den Ruijter, Hester M., Dominiczak, Anna F., Erbel, Raimund, Erdmann, Jeanette, Eriksson, Johan G., Farrall, Martin, Felix, Stephan B., Ferrannini, Ele, Ferrières, Jean, Ford, Ian, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gejman, Pablo V., Gieger, Christian, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hall, Alistair S., Harris, Tamara B., Hattersley, Andrew T., Hicks, Andrew A., Hindorff, Lucia A., Hingorani, Aroon D., Hofman, Albert, Homuth, Georg, Kees Hovingh, G., Humphries, Steve E., Hunt, Steven C., Hyppönen, Elina, Illig, Thomas, Jacobs, Kevin B., Jarvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Johansen, Berit, Jousilahti, Pekka, Wouter Jukema, J., Jula, Antti M., Kaprio, Jaakko, Kastelein, John J. P., Keinanen-Kiukaanniemi, Sirkka M., Kiemeney, Lambertus A., Knekt, Paul, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Moll, Frans L., Morris, Andrew D., Morris, Andrew P., Murray, Jeffrey C., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Madden, Pamela A. F., Pasterkamp, Gerard, Peden, John F., Peters, Annette, Postma, Dirkje S., Pramstaller, Peter P., Price, Jackie F., Qi, Lu, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Rioux, John D., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schunkert, Heribert, Schwarz, Peter E. H., Sever, Peter, Shuldiner, Alan R., Sinisalo, Juha, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Trégouët, David-Alexandre, Tremblay, Angelo, Tremoli, Elena, Virtamo, Jarmo, Vohl, Marie-Claude, Völker, Uwe, Waeber, Gérard, Willemsen, Gonneke, Witteman, Jacqueline C., Carola Zillikens, M., Adair, Linda S., Amouyel, Philippe, Asselbergs, Folkert W., Assimes, Themistocles L., Bochud, Murielle, Boehm, Bernhard O., Boerwinkle, Eric, Bornstein, Stefan R., Bottinger, Erwin P., Bouchard, Claude, Cauchi, Stéphane, Chambers, John C., Chanock, Stephen J., Cooper, Richard S., de Bakker, Paul I. W., Dedoussis, George, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Groop, Leif C., Haiman, Christopher A., Hamsten, Anders, Hui, Jennie, Hunter, David J., Hveem, Kristian, Kaplan, Robert C., Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G., März, Winfried, Melbye, Mads, Metspalu, Andres, Moebus, Susanne, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sattar, Naveed, Schadt, Eric E., Schlessinger, David, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Walker, Mark, Wallaschofski, Henri, Wareham, Nicholas J., Watkins, Hugh, Weir, David R., Wichmann, H-Erich, Wilson, James F., Zanen, Pieter, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Heid, Iris M., OʼConnell, Jeffrey R., Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Abecasis, Gonçalo R., Franke, Lude, Frayling, Timothy M., McCarthy, Mark I., Visscher, Peter M., Scherag, André, Willer, Cristen J., Boehnke, Michael, Mohlke, Karen L., Lindgren, Cecilia M., Beckmann, Jacques S., Barroso, Inês, North, Kari E., Ingelsson, Erik, Hirschhorn, Joel N., Loos, Ruth J. F., and Speliotes, Elizabeth K.

Published
2015
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5. New genetic loci link adipose and insulin biology to body fat distribution

Author

Shungin, Dmitry, Winkler, Thomas W., Croteau-Chonka, Damien C., Ferreira, Teresa, Locke, Adam E., Mägi, Reedik, Strawbridge, Rona J., Pers, Tune H., Fischer, Krista, Justice, Anne E., Workalemahu, Tsegaselassie, Wu, Joseph M. W., Buchkovich, Martin L., Heard-Costa, Nancy L., Roman, Tamara S., Drong, Alexander W., Song, Ci, Gustafsson, Stefan, Day, Felix R., Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jianʼan, Randall, Joshua C., Scherag, André, Vedantam, Sailaja, Wood, Andrew R., Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Ehret, Georg B., Feitosa, Mary F., Goel, Anuj, Jackson, Anne U., Johnson, Toby, Kleber, Marcus E., Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V., Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B., Caspersen, Ida H., Clarke, Robert, Warwick Daw, E., Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S. F., Eklund, Niina, Erdos, Michael R., Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E., Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grewal, Jagvir, Groves, Christopher J., Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L., Holmen, Oddgeir, Hunt, Steven C., Isaacs, Aaron, Ittermann, Till, James, Alan L., Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K., Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L., Mooijaart, Simon P., Mühleisen, Thomas W., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A., Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M., Olden, Matthias, Rayner, Nigel W., Renstrom, Frida, Ried, Janina S., Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M., Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V. A., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P., Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G., Hedman, Åsa K., Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McKnight, Amy J., McPherson, Ruth, Metspalu, Andres, Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Olsson, Christian, Perry, John R. B., Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Schadt, Eric E., Scott, Robert A., Stolk, Lisette, Vallejo, Edgar E., Westra, Harm-Jan, Zondervan, Krina T., Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Brown, Morris J., Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S., Claudi-Boehm, Simone, Collins, Francis S., Crawford, Dana C., Danesh, John, de Faire, Ulf, de Geus, Eco J. C., Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G., Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A., Harris, Tamara B., Hattersley, Andrew T., Heliövaara, Markku, Hicks, Andrew A., Hingorani, Aroon D., Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E., Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M., Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M., Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Musk, Arthur W., Möhlenkamp, Stefan, Morris, Andrew D., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Palmer, Lyle J., Penninx, Brenda W., Peters, Annette, Pramstaller, Peter P., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schwarz, Peter E. H., Shuldiner, Alan R., Staessen, Jan A., Steinthorsdottir, Valgerdur, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F., Witteman, Jacqueline C., Adair, Linda S., Bochud, Murielle, Boehm, Bernhard O., Bornstein, Stefan R., Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Cooper, Richard S., Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sinisalo, Juha, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R., Assimes, Themistocles L., Berndt, Sonja I., Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Franke, Lude, Frayling, Timothy M., Groop, Leif C., Hunter, David J., Kaplan, Robert C., OʼConnell, Jeffrey R., Qi, Lu, Schlessinger, David, Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Willer, Cristen J., Visscher, Peter M., Yang, Jian, Hirschhorn, Joel N., Carola Zillikens, M., McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Fox, Caroline S., Barroso, Inês, Franks, Paul W., Ingelsson, Erik, Heid, Iris M., Loos, Ruth J. F., Cupples, Adrienne L., Morris, Andrew P., Lindgren, Cecilia M., and Mohlke, Karen L

Published
2015
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6. Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia

Author

Smith, Catherine C., Wang, Qi, Chin, Chen-Shan, Salerno, Sara, Damon, Lauren E., Levis, Mark J., Perl, Alexander E., Travers, Kevin J., Wang, Susana, Hunt, Jeremy P., Zarrinkar, Patrick P., Schadt, Eric E., Kasarskis, Andrew, Kuriyan, John, and Shah, Neil P.

Subjects
Gene mutations -- Health aspects, Platelet-derived growth factor -- Genetic aspects -- Health aspects -- Physiological aspects -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Effective targeted cancer therapeutic development depends upon distinguishing disease-associated 'driver' mutations, which have causative roles in malignancy pathogenesis, from 'passenger' mutations, which are dispensable for cancer initiation and maintenance. Translational studies of clinically active targeted therapeutics can definitively discriminate driver from passenger lesions and provide valuable insights into human cancer biology. Activating internal tandem duplication (ITD) mutations in FLT3 (FLT3-ITD)are detected in approximately 20% of acute myeloid leukaemia (AML) patients and are associated with a poor prognosis (1). Abundant scientific (2) and clinical evidence (1,3), including the lack of convincing clinical activity of early FLT3 inhibitors (4,5),suggests that FLT3-ITD probably represents a passenger lesion. Here we report point mutations at three residues within the kinase domain of FLT3-ITD that confer substantial in vitro resistance to AC220 (quizartinib), an active investigational inhibitor of FLT3, KIT, PDGFRA, PDGFRB and RET (6,7); evolution of AC220-resistant substitutions at two of these amino acid positions was observed in eight of eight FLT3-ITD-positive AML patients with acquired resistance to AC220. Our findings demonstrate that FLT3-ITD can represent a driver lesion and valid therapeutic target in human AML. AC220-resistant FLT3 kinase domain mutants represent high-value targets for future FLT3 inhibitor development efforts., Perhaps the most compelling evidence so far that FLT3-ITD could represent a driver mutation in AML was the identification of a secondary FLT3 kinase domain mutation that conferred moderate resistance [...]

Published
2012
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7. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

Author

Musunuru, Kiran, Strong, Alanna, Frank-Kamenetsky, Maria, Lee, Noemi E., Ahfeldt, Tim, Sachs, Katherine V., Li, Xiaoyu, Li, Hui, Kuperwasser, Nicolas, Ruda, Vera M., Pirruccello, James P., Muchmore, Brian, Prokunina- Olsson, Ludmila, Hall, Jennifer L., Schadt, Eric E., Morales, Carlos R., Lund-Katz, Sissel, Phillips, Michael C., Wong, Jamie, Cantley, William, Racie, Timothy, Ejebe, Kenechi G., Orho-Melander, Marju, Melander, Olle, Koteliansky, Victor, Fitzgerald, Kevin, Krauss, Ronald M., Cowan, Chad A., Kathiresan, Sekar, and Rader, Daniel J.

Subjects
Cholesterol -- Genetic aspects -- Health aspects, Heart attack -- Genetic aspects, Genetic variation -- Health aspects -- Genetic aspects, Phenotype -- Health aspects -- Genetic aspects
Abstract

Recent genome-wide association studies (GWASs) have identified a locus on chromosome 1p13 strongly associated with both plasma low-density lipoprotein cholesterol (LDL-C) and myocardial infarction (MI) in humans. Here we show through a series of studies in human cohorts and human-derived hepatocytes that a common noncoding polymorphism at the 1p13 locus, rs12740374, creates a C/EBP (CCAAT/enhancer binding protein) transcription factor binding site and alters the hepatic expression of the SORT1 gene. With small interfering RNA (siRNA) knockdown and viral overexpression in mouse liver, we demonstrate that Sorf7 alters plasma LDL-C and very low-density lipoprotein (VLDL) particle levels by modulating hepatic VLDL secretion. Thus, we provide functional evidence for a novel regulatory pathway for lipoprotein metabolism and suggest that modulation of this pathway may alter risk for MI in humans. We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes., MI is the leading cause of death in the developed world. LDL-C is a causal risk factor for the disease, as demonstrated by the increased and early burden of MI [...]

Published
2010
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8. Molecular networks as sensors and drivers of common human diseases

Author

Schadt, Eric E.

Subjects
Genomics -- Research -- Genetic aspects, Diseases -- United States -- Genetic aspects -- Research, Molecular biology -- Research -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Research, Genetic aspects
Abstract

The molecular biology revolution led to an intense focus on the study of interactions between DNA, RNA and protein biosynthesis in order to develop a more comprehensive understanding of the cell. One consequence of this focus was a reduced attention to whole-system physiology, making it difficult to link molecular biology to clinical medicine. Equipped with the tools emerging from the genomics revolution, we are now in a position to link molecular states to physiological ones through the reverse engineering of molecular networks that sense DNA and environmental perturbations and, as a result, drive variations in physiological states associated with disease., Our understanding of common human diseases and how best to treat them is hampered by the complexity of the human system in which they are manifested. Unlike simple Mendelian disorders, [...]

Published
2009

9. Variations in DNA elucidate molecular networks that cause disease

Author

Chen, Yanqing, Zhu, Jun, Lum, Pek Yee, Yang, Xia, Pinto, Shirly, Macneil, Douglas J., Zhang, Chunsheng, Lamb, John, Edwards, Stephen, Sieberts, Solveig K., Leonardson, Amy, Castellini, Lawrence W., Wang, Susana, Champy, Marie-France, Zhang, Bin, Emilsson, Valur, Doss, Sudheer, Ghazalpour, Anatole, Horvath, Steve, Drake, Thomas A., Lusis, Aldonis J., and Schadt, Eric E.

Subjects
Molecular neurobiology -- Research -- Genetic aspects, Quantitative trait loci -- Research -- Genetic aspects, Genetic variation -- Research -- Genetic aspects, Disease susceptibility -- Genetic aspects -- Research, Multifactorial traits -- Research -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Research, Genetic aspects
Abstract

Identifying variations in DNA that increase susceptibility to disease is one of the primary aims of genetic studies using a forward genetics approach. However, identification of disease-susceptibility genes by means [...]

Published
2008

10. Genetics of gene expression and its effect on disease

Author

Emilsson, Valur, Thorleifson, Gudmar, Zhang, Bin, Leonardson, Amy S., Zink, Florian, Zhu, Jun, Carlson, Sonia, Helgason, Agnar, Walters, G. Bragi, Gunnarsdottir, Steinunn, Mouy, Magali, Steinthorsdottir, Valgerdur, Eiriksdottir, Gudrun H., Bjornsdottir, Gyda, Reynisdottir, Inga, Gudbjartsson, Daniel, Helgadottir, Anna, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Styrkarsdottir, Unnur, Gretarsdottir, Solveig, Magnusson, Kristinn P., Stefansson, Hreinn, Fossdal, Ragnheidur, Kristjansson, Kristleifur, Gislason, Hjortur G., Stefansson, Tryggvi, Leifsson, Bjorn G., Thorsteinsdottir, Unnur, Lamb, John R., Gulcher, Jeffrey R., Reitman, Marc L., Kong, Augustine, Schadt, Eric E., and Stefansson, Kari

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Common human diseases result from the interplay of many genes and environmental factors. Therefore, a more integrative biology approach is needed to unravel the complexity and causes of such diseases. [...]

Published
2008

11. Genetics of gene expression surveyed in maize, mouse and man

Author

Schadt, Eric E., Monks, Stephanie A., Drake, Thomas A., Lusis, Aldons J., Che, Nam, Colinayo, Veronica, Ruff, Thomas G., Milligan, Stephen B., Lamb, John R., Cavet, Guy, Linsley, Peter S., Mao, Mao, Stoughton, Roland B., and Friend, Stephen H.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Eric E. Schadt (corresponding author) [1, 2]; Stephanie A. Monks [1, 2, 3]; Thomas A. Drake [4]; Aldons J. Lusis [5]; Nam Che [5]; Veronica Colinayo [5]; Thomas G. [...]

Published
2003
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12. Seventy-five genetic loci influencing the human red blood cell

Author

van der Harst, Pim, Zhang, Weihua, Mateo Leach, Irene, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tõnu, Evans, David M., Franke, Lude, Gögele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., OʼReilly, Paul F., Padmanabhan, Sandosh, Parsa, Afshin, Pirastu, Nicola, Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ried, Janina S., Shin, So-Youn, Tang, Clara S., Teumer, Alexander, Traglia, Michela, Ulivi, Sheila, Westra, Harm-Jan, Yang, Jian, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Balkau, Beverley, Bandinelli, Stefania, Bastardot, François, Benyamin, Beben, Boehm, Bernhard O., Cookson, William O., Das, Debashish, de Bakker, Paul I. W., de Boer, Rudolf A., de Geus, Eco J. C., de Moor, Marleen H., Dimitriou, Maria, Domingues, Francisco S., Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Galanello, Renzo, Garner, Stephen F., Genser, Bernd, Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Harris, Sarah E., Hartikainen, Anna-Liisa, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kähönen, Mika, Kema, Ido P., Kemp, John P., Liang, Liming, Lloyd-Jones, Heather, Loos, Ruth J. F., Meacham, Stuart, Medland, Sarah E., Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Miller, Kathy, Moffatt, Miriam F., Nauck, Matthias, Novatchkova, Maria, Nutile, Teresa, Olafsson, Isleifur, Onundarson, Pall T., Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Pouta, Anneli, Puc, Ursula, Raitakari, Olli, Ring, Susan M., Robino, Antonietta, Ruggiero, Daniela, Ruokonen, Aimo, Saint-Pierre, Aude, Sala, Cinzia, Salumets, Andres, Sambrook, Jennifer, Schepers, Hein, Oliver Schmidt, Carsten, Silljé, Herman H. W., Sladek, Rob, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Thorsteinsdottir, Unnur, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Völker, Uwe, Whitfield, John B., Willemsen, Gonneke, Winkelmann, Bernhard R., Wirnsberger, Gerald, Algra, Ale, Cucca, Francesco, dʼAdamo, Adamo Pio, Danesh, John, Deary, Ian J., Dominiczak, Anna F., Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Greinacher, Andreas, Hazen, Stanley L., Jarvelin, Marjo-Riitta, Tee Khaw, Kay, Lehtimäki, Terho, Maerz, Winfried, Martin, Nicholas G., Metspalu, Andres, Mitchell, Braxton D., Montgomery, Grant W., Moore, Carmel, Navis, Gerjan, Pirastu, Mario, Pramstaller, Peter P., Ramirez-Solis, Ramiro, Schadt, Eric, Scott, James, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Snieder, Harold, Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Stumvoll, Michael, Wilson Tang, W. H., Toniolo, Daniela, Tönjes, Anke, Visscher, Peter M., Vollenweider, Peter, Wareham, Nicholas J., Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Beckmann, Jacques S., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Sanna, Serena, Uda, Manuela, Hicks, Andrew A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole, and Chambers, John C.

Published
2012
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13. Hundreds of variants clustered in genomic loci and biological pathways affect human height

Author

Lango Allen, Hana, Estrada, Karol, Lettre, Guillaume, Berndt, Sonja I., Weedon, Michael N., Rivadeneira, Fernando, Willer, Cristen J., Jackson, Anne U., Vedantam, Sailaja, Raychaudhuri, Soumya, Ferreira, Teresa, Wood, Andrew R., Weyant, Robert J., Segrè, Ayellet V., Speliotes, Elizabeth K., Wheeler, Eleanor, Soranzo, Nicole, Park, Ju-Hyun, Yang, Jian, Gudbjartsson, Daniel, Heard-Costa, Nancy L., Randall, Joshua C., Qi, Lu, Vernon Smith, Albert, Mägi, Reedik, Pastinen, Tomi, Liang, Liming, Heid, Iris M., Luan, Jian’an, Thorleifsson, Gudmar, Winkler, Thomas W., Goddard, Michael E., Sin Lo, Ken, Palmer, Cameron, Workalemahu, Tsegaselassie, Aulchenko, Yurii S., Johansson, Åsa, Carola Zillikens, M., Feitosa, Mary F., Esko, Tõnu, Johnson, Toby, Ketkar, Shamika, Kraft, Peter, Mangino, Massimo, Prokopenko, Inga, Absher, Devin, Albrecht, Eva, Ernst, Florian, Glazer, Nicole L., Hayward, Caroline, Hottenga, Jouke-Jan, Jacobs, Kevin B., Knowles, Joshua W., Kutalik, Zoltán, Monda, Keri L., Polasek, Ozren, Preuss, Michael, Rayner, Nigel W., Robertson, Neil R., Steinthorsdottir, Valgerdur, Tyrer, Jonathan P., Voight, Benjamin F., Wiklund, Fredrik, Xu, Jianfeng, Hua Zhao, Jing, Nyholt, Dale R., Pellikka, Niina, Perola, Markus, Perry, John R. B., Surakka, Ida, Tammesoo, Mari-Liis, Altmaier, Elizabeth L., Amin, Najaf, Aspelund, Thor, Bhangale, Tushar, Boucher, Gabrielle, Chasman, Daniel I., Chen, Constance, Coin, Lachlan, Cooper, Matthew N., Dixon, Anna L., Gibson, Quince, Grundberg, Elin, Hao, Ke, Juhani Junttila, M., Kaplan, Lee M., Kettunen, Johannes, König, Inke R., Kwan, Tony, Lawrence, Robert W., Levinson, Douglas F., Lorentzon, Mattias, McKnight, Barbara, Morris, Andrew P., Müller, Martina, Suh Ngwa, Julius, Purcell, Shaun, Rafelt, Suzanne, Salem, Rany M., Salvi, Erika, Sanna, Serena, Shi, Jianxin, Sovio, Ulla, Thompson, John R., Turchin, Michael C., Vandenput, Liesbeth, Verlaan, Dominique J., Vitart, Veronique, White, Charles C., Ziegler, Andreas, Almgren, Peter, Balmforth, Anthony J., Campbell, Harry, Citterio, Lorena, De Grandi, Alessandro, Dominiczak, Anna, Duan, Jubao, Elliott, Paul, Elosua, Roberto, Eriksson, Johan G., Freimer, Nelson B., Geus, Eco J. C., Glorioso, Nicola, Haiqing, Shen, Hartikainen, Anna-Liisa, Havulinna, Aki S., Hicks, Andrew A., Hui, Jennie, Igl, Wilmar, Illig, Thomas, Jula, Antti, Kajantie, Eero, Kilpeläinen, Tuomas O., Koiranen, Markku, Kolcic, Ivana, Koskinen, Seppo, Kovacs, Peter, Laitinen, Jaana, Liu, Jianjun, Lokki, Marja-Liisa, Marusic, Ana, Maschio, Andrea, Meitinger, Thomas, Mulas, Antonella, Paré, Guillaume, Parker, Alex N., Peden, John F., Petersmann, Astrid, Pichler, Irene, Pietiläinen, Kirsi H., Pouta, Anneli, Ridderstråle, Martin, Rotter, Jerome I., Sambrook, Jennifer G., Sanders, Alan R., Oliver Schmidt, Carsten, Sinisalo, Juha, Smit, Jan H., Stringham, Heather M., Bragi Walters, G., Widen, Elisabeth, Wild, Sarah H., Willemsen, Gonneke, Zagato, Laura, Zgaga, Lina, Zitting, Paavo, Alavere, Helene, Farrall, Martin, McArdle, Wendy L., Nelis, Mari, Peters, Marjolein J., Ripatti, Samuli, van Meurs, Joyce B. J., Aben, Katja K., Ardlie, Kristin G., Beckmann, Jacques S., Beilby, John P., Bergman, Richard N., Bergmann, Sven, Collins, Francis S., Cusi, Daniele, den Heijer, Martin, Eiriksdottir, Gudny, Gejman, Pablo V., Hall, Alistair S., Hamsten, Anders, Huikuri, Heikki V., Iribarren, Carlos, Kähönen, Mika, Kaprio, Jaakko, Kathiresan, Sekar, Kiemeney, Lambertus, Kocher, Thomas, Launer, Lenore J., Lehtimäki, Terho, Melander, Olle, Mosley, Tom H., Jr, Musk, Arthur W., Nieminen, Markku S., O’Donnell, Christopher J., Ohlsson, Claes, Oostra, Ben, Palmer, Lyle J., Raitakari, Olli, Ridker, Paul M., Rioux, John D., Rissanen, Aila, Rivolta, Carlo, Schunkert, Heribert, Shuldiner, Alan R., Siscovick, David S., Stumvoll, Michael, Tönjes, Anke, Tuomilehto, Jaakko, van Ommen, Gert-Jan, Viikari, Jorma, Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Province, Michael A., Kayser, Manfred, Arnold, Alice M., Atwood, Larry D., Boerwinkle, Eric, Chanock, Stephen J., Deloukas, Panos, Gieger, Christian, Grönberg, Henrik, Hall, Per, Hattersley, Andrew T., Hengstenberg, Christian, Hoffman, Wolfgang, Mark Lathrop, G., Salomaa, Veikko, Schreiber, Stefan, Uda, Manuela, Waterworth, Dawn, Wright, Alan F., Assimes, Themistocles L., Barroso, Inês, Hofman, Albert, Mohlke, Karen L., Boomsma, Dorret I., Caulfield, Mark J., Adrienne Cupples, L., Erdmann, Jeanette, Fox, Caroline S., Gudnason, Vilmundur, Gyllensten, Ulf, Harris, Tamara B., Hayes, Richard B., Jarvelin, Marjo-Riitta, Mooser, Vincent, Munroe, Patricia B., Ouwehand, Willem H., Penninx, Brenda W., Pramstaller, Peter P., Quertermous, Thomas, Rudan, Igor, Samani, Nilesh J., Spector, Timothy D., Völzke, Henry, Watkins, Hugh, Wilson, James F., Groop, Leif C., Haritunians, Talin, Hu, Frank B., Kaplan, Robert C., Metspalu, Andres, North, Kari E., Schlessinger, David, Wareham, Nicholas J., Hunter, David J., O’Connell, Jeffrey R., Strachan, David P., Wichmann, H.-Erich, Borecki, Ingrid B., van Duijn, Cornelia M., Schadt, Eric E., Thorsteinsdottir, Unnur, Peltonen, Leena, Uitterlinden, André G., Visscher, Peter M., Chatterjee, Nilanjan, Loos, Ruth J. F., Boehnke, Michael, McCarthy, Mark I., Ingelsson, Erik, Lindgren, Cecilia M., Abecasis, Gonçalo R., Stefansson, Kari, Frayling, Timothy M., and Hirschhorn, Joel N.

Published
2010
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14. Biological, clinical and population relevance of 95 loci for blood lipids

Author

Teslovich, Tanya M., Musunuru, Kiran, Smith, Albert V., Edmondson, Andrew C., Stylianou, Ioannis M., Koseki, Masahiro, Pirruccello, James P., Ripatti, Samuli, Chasman, Daniel I., Willer, Cristen J., Johansen, Christopher T., Fouchier, Sigrid W., Isaacs, Aaron, Peloso, Gina M., Barbalic, Maja, Ricketts, Sally L., Bis, Joshua C., Aulchenko, Yurii S., Thorleifsson, Gudmar, Feitosa, Mary F., Chambers, John, Orho-Melander, Marju, Melander, Olle, Johnson, Toby, Li, Xiaohui, Guo, Xiuqing, Li, Mingyao, Cho, Yoon Shin, Go, Min Jin, Kim, Young Jin, Lee, Jong-Young, Park, Taesung, Kim, Kyunga, Sim, Xueling, Ong, Rick Twee-Hee, Croteau-Chonka, Damien C., Lange, Leslie A., Smith, Joshua D., Song, Kijoung, Zhao, Jing Hua, Yuan, Xin, Luan, Jian’an, Lamina, Claudia, Ziegler, Andreas, Zhang, Weihua, Zee, Robert Y. L., Wright, Alan F., Witteman, Jacqueline C. M., Wilson, James F., Willemsen, Gonneke, Wichmann, H.-Erich, Whitfield, John B., Waterworth, Dawn M., Wareham, Nicholas J., Waeber, Gérard, Vollenweider, Peter, Voight, Benjamin F., Vitart, Veronique, Uitterlinden, Andre G., Uda, Manuela, Tuomilehto, Jaakko, Thompson, John R., Tanaka, Toshiko, Surakka, Ida, Stringham, Heather M., Spector, Tim D., Soranzo, Nicole, Smit, Johannes H., Sinisalo, Juha, Silander, Kaisa, Sijbrands, Eric J. G., Scuteri, Angelo, Scott, James, Schlessinger, David, Sanna, Serena, Salomaa, Veikko, Saharinen, Juha, Sabatti, Chiara, Ruokonen, Aimo, Rudan, Igor, Rose, Lynda M., Roberts, Robert, Rieder, Mark, Psaty, Bruce M., Pramstaller, Peter P., Pichler, Irene, Perola, Markus, Penninx, Brenda W. J. H., Pedersen, Nancy L., Pattaro, Cristian, Parker, Alex N., Pare, Guillaume, Oostra, Ben A., O’Donnell, Christopher J., Nieminen, Markku S., Nickerson, Deborah A., Montgomery, Grant W., Meitinger, Thomas, McPherson, Ruth, McCarthy, Mark I., McArdle, Wendy, Masson, David, Martin, Nicholas G., Marroni, Fabio, Mangino, Massimo, Magnusson, Patrik K. E., Lucas, Gavin, Luben, Robert, Loos, Ruth J. F., Lokki, Marja-Liisa, Lettre, Guillaume, Langenberg, Claudia, Launer, Lenore J., Lakatta, Edward G., Laaksonen, Reijo, Kyvik, Kirsten O., Kronenberg, Florian, König, Inke R., Khaw, Kay-Tee, Kaprio, Jaakko, Kaplan, Lee M., Johansson, Åsa, Jarvelin, Marjo-Riitta, Janssens, Cecile A. J. W., Ingelsson, Erik, Igl, Wilmar, Hovingh, G. Kees, Hottenga, Jouke-Jan, Hofman, Albert, Hicks, Andrew A., Hengstenberg, Christian, Heid, Iris M., Hayward, Caroline, Havulinna, Aki S., Hastie, Nicholas D., Harris, Tamara B., Haritunians, Talin, Hall, Alistair S., Gyllensten, Ulf, Guiducci, Candace, Groop, Leif C., Gonzalez, Elena, Gieger, Christian, Freimer, Nelson B., Ferrucci, Luigi, Erdmann, Jeanette, Elliott, Paul, Ejebe, Kenechi G., Döring, Angela, Dominiczak, Anna F., Demissie, Serkalem, Deloukas, Panagiotis, de Geus, Eco J. C., de Faire, Ulf, Crawford, Gabriel, Collins, Francis S., Chen, Yii-der I., Caulfield, Mark J., Campbell, Harry, Burtt, Noel P., Bonnycastle, Lori L., Boomsma, Dorret I., Boekholdt, Matthijs S., Bergman, Richard N., Barroso, Inês, Bandinelli, Stefania, Ballantyne, Christie M., Assimes, Themistocles L., Quertermous, Thomas, Altshuler, David, Seielstad, Mark, Wong, Tien Y., Tai, E-Shyong, Feranil, Alan B., Kuzawa, Christopher W., Adair, Linda S., Taylor, Herman A., Jr, Borecki, Ingrid B., Gabriel, Stacey B., Wilson, James G., Holm, Hilma, Thorsteinsdottir, Unnur, Gudnason, Vilmundur, Krauss, Ronald M., Mohlke, Karen L., Ordovas, Jose M., Munroe, Patricia B., Kooner, Jaspal S., Tall, Alan R., Hegele, Robert A., Kastelein, John J.P., Schadt, Eric E., Rotter, Jerome I., Boerwinkle, Eric, Strachan, David P., Mooser, Vincent, Stefansson, Kari, Reilly, Muredach P., Samani, Nilesh J, Schunkert, Heribert, Cupples, Adrienne L., Sandhu, Manjinder S., Ridker, Paul M, Rader, Daniel J., van Duijn, Cornelia M., Peltonen, Leena, Abecasis, Gonçalo R., Boehnke, Michael, and Kathiresan, Sekar

Published
2010
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16. A first update on mapping the human genetic architecture of COVID-19

Author

COVID-19 Host Genetics Initiative, Pathak, GA, Karjalainen, J, Stevens, C, Neale, BM, Daly, M, Ganna, A, Andrews, SJ, Kanai, M, Cordioli, M, Polimanti, R, Harerimana, N, Pirinen, M, Liao, RG, Chwialkowska, K, Trankiem, A, Balaconis, MK, Nguyen, H, Solomonson, M, Veerapen, K, Wolford, B, Roberts, G, Park, D, Ball, CA, Coignet, M, McCurdy, S, Knight, S, Partha, R, Rhead, B, Zhang, M, Berkowitz, N, Gaddis, M, Noto, K, Ruiz, L, Pavlovic, M, Hong, EL, Rand, K, Girshick, A, Guturu, H, Baltzell, AH, Niemi, MEK, Rahmouni, S, Guntz, J, Beguin, Y, Pigazzini, S, Nkambule, L, Georges, M, Moutschen, M, Misset, B, Darcis, G, Guiot, J, Azarzar, S, Gofflot, S, Claassen, S, Malaise, O, Huynen, P, Meuris, C, Thys, M, Jacques, J, Leonard, P, Frippiat, F, Giot, J-B, Sauvage, A-S, Frenckell, CV, Belhaj, Y, Lambermont, B, Nakanishi, T, Morrison, DR, Mooser, V, Richards, JB, Butler-Laporte, G, Forgetta, V, Li, R, Ghosh, B, Laurent, L, Belisle, A, Henry, D, Abdullah, T, Adeleye, O, Mamlouk, N, Kimchi, N, Afrasiabi, Z, Rezk, N, Vulesevic, B, Bouab, M, Guzman, C, Petitjean, L, Tselios, C, Xue, X, Afilalo, J, Afilalo, M, Oliveira, M, Brenner, B, Brassard, N, Durand, M, Schurr, E, Lepage, P, Ragoussis, J, Auld, D, Chassé, M, Kaufmann, DE, Lathrop, GM, Adra, D, Hayward, C, Glessner, JT, Shaw, DM, Campbell, A, Morris, M, Hakonarson, H, Porteous, DJ, Below, J, Richmond, A, Chang, X, Polikowski, H, Lauren, PE, Chen, H-H, Wanying, Z, Fawns-Ritchie, C, North, K, McCormick, JB, Glessner, JR, Gignoux, CR, Wicks, SJ, Crooks, K, Barnes, KC, Daya, M, Shortt, J, Rafaels, N, Chavan, S, Timmers, PRHJ, Wilson, JF, Tenesa, A, Kerr, SM, D’Mellow, K, Shahin, D, El-Sherbiny, YM, von Hohenstaufen, KA, Sobh, A, Eltoukhy, MM, Nkambul, L, Elhadidy, TA, Abd Elghafar, MS, El-Jawhari, JJ, Mohamed, AAS, Elnagdy, MH, Samir, A, Abdel-Aziz, M, Khafaga, WT, El-Lawaty, WM, Torky, MS, El-shanshory, MR, Yassen, AM, Hegazy, MAF, Okasha, K, Eid, MA, Moahmed, HS, Medina-Gomez, C, Ikram, MA, Uitterlinden, AG, Mägi, R, Milani, L, Metspalu, A, Laisk, T, Läll, K, Lepamets, M, Esko, T, Reimann, E, Naaber, P, Laane, E, Pesukova, J, Peterson, P, Kisand, K, Tabri, J, Allos, R, Hensen, K, Starkopf, J, Ringmets, I, Tamm, A, Kallaste, A, Alavere, H, Metsalu, K, Puusepp, M, Batini, C, Tobin, MD, Venn, LD, Lee, PH, Shrine, N, Williams, AT, Guyatt, AL, John, C, Packer, RJ, Ali, A, Free, RC, Wang, X, Wain, LV, Hollox, EJ, Bee, CE, Adams, EL, Palotie, A, Ripatti, S, Ruotsalainen, S, Kristiansson, K, Koskelainen, S, Perola, M, Donner, K, Kivinen, K, Kaunisto, M, Rivolta, C, Bochud, P-Y, Bibert, S, Boillat, N, Nussle, SG, Albrich, W, Quinodoz, M, Kamdar, D, Suh, N, Neofytos, D, Erard, V, Voide, C, Friolet, R, Vollenweider, P, Pagani, JL, Oddo, M, zu Bentrup, FM, Conen, A, Clerc, O, Marchetti, O, Guillet, A, Guyat-Jacques, C, Foucras, S, Rime, M, Chassot, J, Jaquet, M, Viollet, RM, Lannepoudenx, Y, Portopena, L, Bochud, PY, Desgranges, F, Filippidis, P, Guéry, B, Haefliger, D, Kampouri, EE, Manuel, O, Munting, A, Papadimitriou-Olivgeris, M, Regina, J, Rochat-Stettler, L, Suttels, V, Tadini, E, Tschopp, J, Van Singer, M, Viala, B, Boillat-Blanco, N, Brahier, T, Hügli, O, Meuwly, JY, Pantet, O, Gonseth Nussle, S, Bochud, M, D’Acremont, V, Estoppey Younes, S, Albrich, WC, Cerny, A, O’Mahony, L, von Mering, C, Frischknecht, M, Kleger, G-R., Filipovic, M, Kahlert, CR, Wozniak, H, Negro, TR, Pugin, J, Bouras, K, Knapp, C, Egger, T, Perret, A, Montillier, P, di Bartolomeo, C, Barda, B, de Cid, R, Carreras, A, Moreno, V, Kogevinas, M, Galván-Femenía, I, Blay, N, Farré, X, Sumoy, L, Cortés, B, Mercader, JM, Guindo-Martinez, M, Torrents, D, Garcia-Aymerich, J, Castaño-Vinyals, G, Dobaño, C, Gori, M, Renieri, A, Mari, F, Mondelli, MU, Castelli, F, Vaghi, M, Rusconi, S, Montagnani, F, Bargagli, E, Franchi, F, Mazzei, MA, Cantarini, L, Tacconi, D, Feri, M, Scala, R, Spargi, G, Nencioni, C, Bandini, M, Caldarelli, GP, Canaccini, A, Ognibene, A, D’Arminio Monforte, A, Girardis, M, Antinori, A, Francisci, D, Schiaroli, E, Scotton, PG, Panese, S, Scaggiante, R, Monica, MD, Capasso, M, Fiorentino, G, Castori, M, Aucella, F, Biagio, AD, Masucci, L, Valente, S, Mandalà, M, Zucchi, P, Giannattasio, F, Coviello, DA, Mussini, C, Tavecchia, L, Crotti, L, Rizzi, M, Rovere, MTL, Sarzi-Braga, S, Bussotti, M, Ravaglia, S, Artuso, R, Perrella, A, Romani, D, Bergomi, P, Catena, E, Vincenti, A, Ferri, C, Grassi, D, Pessina, G, Tumbarello, M, Pietro, MD, Sabrina, R, Luchi, S, Furini, S, Dei, S, Benetti, E, Picchiotti, N, Sanarico, M, Ceri, S, Pinoli, P, Raimondi, F, Biscarini, F, Stella, A, Zguro, K, Capitani, K, Tanfoni, M, Fallerini, C, Daga, S, Baldassarri, M, Fava, F, Frullanti, E, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Mencarelli, MA, Rizzo, CL, Pinto, AM, Beligni, G, Tommasi, A, Sarno, LD, Palmieri, M, Carriero, ML, Alaverdian, D, Busani, S, Bruno, R, Vecchia, M, Belli, MA, Mantovani, S, Ludovisi, S, Quiros-Roldan, E, Antoni, MD, Zanella, I, Siano, M, Emiliozzi, A, Fabbiani, M, Rossetti, B, Bergantini, L, D’Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Guerrini, S, Conticini, E, Frediani, B, Spertilli, C, Donati, A, Guidelli, L, Corridi, M, Croci, L, Piacentini, P, Desanctis, E, Cappelli, S, Verzuri, A, Anemoli, V, Pancrazzi, A, Lorubbio, M, Miraglia, FG, Venturelli, S, Cossarizza, A, Vergori, A, Gabrieli, A, Riva, A, Paciosi, F, Andretta, F, Gatti, F, Parisi, SG, Baratti, S, Piscopo, C, Russo, R, Andolfo, I, Iolascon, A, Carella, M, Merla, G, Squeo, GM, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Sanguinetti, M, Giorli, A, Salerni, L, Parravicini, P, Menatti, E, Trotta, T, Coiro, G, Lena, F, Martinelli, E, Mancarella, S, Gabbi, C, Maggiolo, F, Ripamonti, D, Bachetti, T, Suardi, C, Parati, G, Bottà, G, Domenico, PD, Rancan, I, Bianchi, F, Colombo, R, Barbieri, C, Acquilini, D, Andreucci, E, Segala, FV, Tiseo, G, Falcone, M, Lista, M, Poscente, M, Vivo, OD, Petrocelli, P, Guarnaccia, A, Baroni, S, van Heel, DA, Hunt, KA, Trembath, RC, Huang, QQ, Martin, HC, Mason, D, Trivedi, B, Wright, J, Finer, S, Akhtar, S, Anwar, M, Arciero, E, Ashraf, S, Breen, G, Chung, R, Curtis, CJ, Chowdhury, M, Colligan, G, Deloukas, P, Durham, C, Griffiths, C, Hurles, M, Hussain, S, Islam, K, Khan, A, Lavery, C, Lee, SH, Lerner, R, MacArthur, D, MacLaughlin, B, Martin, H, Miah, S, Newman, B, Safa, N, Tahmasebi, F, Griffiths, CJ, Smith, AV, Boughton, AP, Li, KW, LeFaive, J, Annis, A, Niavarani, A, Aliannejad, R, Sharififard, B, Amirsavadkouhi, A, Naderpour, Z, Tadi, HA, Aleagha, AE, Ahmadi, S, Moghaddam, SBM, Adamsara, A, Saeedi, M, Abdollahi, H, Hosseini, A, Chariyavilaskul, P, Jantarabenjakul, W, Hirankarn, N, Chamnanphon, M, Suttichet, TB, Shotelersuk, V, Pongpanich, M, Phokaew, C, Chetruengchai, W, Putchareon, O, Torvorapanit, P, Puthanakit, T, Suchartlikitwong, P, Nilaratanakul, V, Sodsai, P, Brumpton, BM, Hveem, K, Willer, C, Zhou, W, Rogne, T, Solligard, E, Åsvold, BO, Franke, L, Boezen, M, Deelen, P, Claringbould, A, Lopera, E, Warmerdam, R, Vonk, JM, van Blokland, I, Lanting, P, Ori, APS, Feng, Y-CA, Mercader, J, Weiss, ST, Karlson, EW, Smoller, JW, Murphy, SN, Meigs, JB, Woolley, AE, Green, RC, Perez, EF, Zöllner, S, Wang, J, Beck, A, Sloofman, LG, Ascolillo, S, Sebra, RP, Collins, BL, Levy, T, Buxbaum, JD, Sealfon, SC, Jordan, DM, Thompson, RC, Gettler, K, Chaudhary, K, Belbin, GM, Preuss, M, Hoggart, C, Choi, S, Underwood, SJ, Salib, I, Britvan, B, Keller, K, Tang, L, Peruggia, M, Hiester, LL, Niblo, K, Aksentijevich, A, Labkowsky, A, Karp, A, Zlatopolsky, M, Zyndorf, M, Charney, AW, Beckmann, ND, Schadt, EE, Abul-Husn, NS, Cho, JH, Itan, Y, Kenny, EE, Loos, RJF, Nadkarni, GN, Do, R, O’Reilly, P, Huckins, LM, Ferreira, MAR, Abecasis, GR, Leader, JB, Cantor, MN, Justice, AE, Carey, DJ, Chittoor, G, Josyula, NS, Kosmicki, JA, Horowitz, JE, Baras, A, Gass, MC, Yadav, A, Mirshahi, T, Hottenga, JJ, Bartels, M, de geus, EEJC, Nivard, MMG, Verma, A, Ritchie, MD, Rader, D, Li, B, Verma, SS, Lucas, A, Bradford, Y, Abedalthagafi, M, Alaamery, M, Alshareef, A, Sawaji, M, Massadeh, S, AlMalik, A, Alqahtani, S, Baraka, D, Harthi, FA, Alsolm, E, Safieh, LA, Alowayn, AM, Alqubaishi, F, Mutairi, AA, Mangul, S, Almutairi, M, Aljawini, N, Albesher, N, Arabi, YM, Mahmoud, ES, Khattab, AK, Halawani, RT, Alahmadey, ZZ, Albakri, JK, Felemban, WA, Suliman, BA, Hasanato, R, Al-Awdah, L, Alghamdi, J, AlZahrani, D, AlJohani, S, Al-Afghani, H, AlDhawi, N, AlBardis, H, Alkwai, S, Alswailm, M, Almalki, F, Albeladi, M, Almohammed, I, Barhoush, E, Albader, A, Alotaibi, S, Alghamdi, B, Jung, J, fawzy, MS, Alrashed, M, Zeberg, H, Frithiof, R, Hultström, M, Lipcsey, M, Tardif, N, Rooyackers, O, Grip, J, Maricic, T, Helgeland, Ø, Magnus, P, Trogstad, L-IS, Lee, Y, Harris, JR, Mangino, M, Spector, TD, Emma, D, Moutsianas, L, Caulfield, MJ, Scott, RH, Kousathanas, A, Pasko, D, Walker, S, Stuckey, A, Odhams, CA, Rhodes, D, Fowler, T, Rendon, A, Chan, G, Arumugam, P, Karczewski, KJ, Martin, AR, Wilson, DJ, Spencer, CCA, Crook, DW, Wyllie, DH, O’Connell, AM, Atkinson, EG, Tsuo, K, Baya, N, Turley, P, Gupta, R, Walters, RK, Palmer, DS, Sarma, G, Cheng, N, Lu, W, Churchhouse, C, Goldstein, JI, King, D, Seed, C, Daly, MJ, Finucane, H, Bryant, S, Satterstrom, FK, Band, G, Earle, SG, Lin, S-K, Arning, N, Koelling, N, Armstrong, J, Rudkin, JK, Callier, S, Cusick, C, Soranzo, N, Zhao, JH, Danesh, J, Angelantonio, ED, Butterworth, AS, Sun, YV, Huffman, JE, Cho, K, O’Donnell, CJ, Tsao, P, Gaziano, JM, Peloso, G, Ho, Y-L, Smieszek, SP, Polymeropoulos, C, Polymeropoulos, V, Polymeropoulos, MH, Przychodzen, BP, Fernandez-Cadenas, I, Planas, AM, Perez-Tur, J, Llucià-Carol, L, Cullell, N, Muiño, E, Cárcel-Márquez, J, DeDiego, ML, Iglesias, LL, Soriano, A, Rico, V, Agüero, D, Bedini, JL, Lozano, F, Domingo, C, Robles, V, Ruiz-Jaén, F, Márquez, L, Gomez, J, Coto, E, Albaiceta, GM, García-Clemente, M, Dalmau, D, Arranz, MJ, Dietl, B, Serra-Llovich, A, Soler, P, Colobrán, R, Martín-Nalda, A, Martínez, AP, Bernardo, D, Rojo, S, Fiz-López, A, Arribas, E, de la Cal-Sabater, P, Segura, T, González-Villa, E, Serrano-Heras, G, Martí-Fàbregas, J, Jiménez-Xarrié, E, de Felipe Mimbrera, A, Masjuan, J, García-Madrona, S, Domínguez-Mayoral, A, Villalonga, JM, Menéndez-Valladares, P, Chasman, DI, Sesso, HD, Manson, JE, Buring, JE, Ridker, PM, Franco, G, Davis, L, Lee, S, Priest, J, Sankaran, VG, van Heel, D, Biesecker, L, Kerchberger, VE, Baillie, JK, Pathak, Gita A., Karjalainen, Juha, Stevens, Christine, Neale, Benjamin M., Daly, Mark, Ganna, Andrea, Andrews, Shea J., Kanai, Masahiro, Cordioli, Mattia, Polimanti, Renato, Harerimana, Nadia, Pirinen, Matti, Liao, Rachel G., Chwialkowska, Karolina, Trankiem, Amy, Balaconis, Mary K., Nguyen, Huy, Solomonson, Matthew, Veerapen, Kumar, Wolford, Brooke, Roberts, Genevieve, Park, Danny, Ball, Catherine A., Coignet, Marie, McCurdy, Shannon, Knight, Spencer, Partha, Raghavendran, Rhead, Brooke, Zhang, Miao, Berkowitz, Nathan, Gaddis, Michael, Noto, Keith, Ruiz, Luong, Pavlovic, Milo, Hong, Eurie L., Rand, Kristin, Girshick, Ahna, Guturu, Harendra, Baltzell, Asher Haug, Niemi, Mari E. K., Rahmouni, Souad, Guntz, Julien, Beguin, Yve, Pigazzini, Sara, Nkambule, Lindokuhle, Georges, Michel, Moutschen, Michel, Misset, Benoit, Darcis, Gille, Guiot, Julien, Azarzar, Samira, Gofflot, Stéphanie, Claassen, Sabine, Malaise, Olivier, Huynen, Pascale, Meuris, Christelle, Thys, Marie, Jacques, Jessica, Léonard, Philippe, Frippiat, Frederic, Giot, Jean-Baptiste, Sauvage, Anne-Sophie, Frenckell, Christian Von, Belhaj, Yasmine, Lambermont, Bernard, Nakanishi, Tomoko, Morrison, David R., Mooser, Vincent, Richards, J. Brent, Butler-Laporte, Guillaume, Forgetta, Vincenzo, Li, Rui, Ghosh, Biswarup, Laurent, Laetitia, Belisle, Alexandre, Henry, Danielle, Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Vulesevic, Branka, Bouab, Meriem, Guzman, Charlotte, Petitjean, Loui, Tselios, Chri, Xue, Xiaoqing, Afilalo, Jonathan, Afilalo, Marc, Oliveira, Maureen, Brenner, Bluma, Brassard, Nathalie, Durand, Madeleine, Schurr, Erwin, Lepage, Pierre, Ragoussis, Jianni, Auld, Daniel, Chassé, Michaël, Kaufmann, Daniel E., Lathrop, G. Mark, Adra, Darin, Hayward, Caroline, Glessner, Joseph T., Shaw, Douglas M., Campbell, Archie, Morris, Marcela, Hakonarson, Hakon, Porteous, David J., Below, Jennifer, Richmond, Anne, Chang, Xiao, Polikowski, Hannah, Lauren, Petty E., Chen, Hung-Hsin, Wanying, Zhu, Fawns-Ritchie, Chloe, North, Kari, McCormick, Joseph B., Glessner, Joseph R., Gignoux, Christopher R., Wicks, Stephen J., Crooks, Kristy, Barnes, Kathleen C., Daya, Michelle, Shortt, Jonathan, Rafaels, Nichola, Chavan, Sameer, Timmers, Paul R. H. J., Wilson, James F., Tenesa, Albert, Kerr, Shona M., D’Mellow, Kenton, Shahin, Doaa, El-Sherbiny, Yasser M., von Hohenstaufen, Kathrin Aprile, Sobh, Ali, Eltoukhy, Madonna M., Nkambul, Lindokuhle, Elhadidy, Tamer A., Abd Elghafar, Mohamed S., El-Jawhari, Jehan J., Mohamed, Attia A. S., Elnagdy, Marwa H., Samir, Amr, Abdel-Aziz, Mahmoud, Khafaga, Walid T., El-Lawaty, Walaa M., Torky, Mohamed S., El-shanshory, Mohamed R., Yassen, Amr M., Hegazy, Mohamed A. F., Okasha, Kamal, Eid, Mohammed A., Moahmed, Hanteera S., Medina-Gomez, Carolina, Ikram, M. Arfan, Uitterlinden, Andre G., Mägi, Reedik, Milani, Lili, Metspalu, Andre, Laisk, Triin, Läll, Kristi, Lepamets, Maarja, Esko, Tõnu, Reimann, Ene, Naaber, Paul, Laane, Edward, Pesukova, Jaana, Peterson, Pärt, Kisand, Kai, Tabri, Jekaterina, Allos, Raili, Hensen, Kati, Starkopf, Joel, Ringmets, Inge, Tamm, Anu, Kallaste, Anne, Alavere, Helene, Metsalu, Kristjan, Puusepp, Mairo, Batini, Chiara, Tobin, Martin D., Venn, Laura D., Lee, Paul H., Shrine, Nick, Williams, Alexander T., Guyatt, Anna L., John, Catherine, Packer, Richard J., Ali, Altaf, Free, Robert C., Wang, Xueyang, Wain, Louise V., Hollox, Edward J., Bee, Catherine E., Adams, Emma L., Palotie, Aarno, Ripatti, Samuli, Ruotsalainen, Sanni, Kristiansson, Kati, Koskelainen, Sami, Perola, Marku, Donner, Kati, Kivinen, Katja, Kaunisto, Mari, Rivolta, Carlo, Bochud, Pierre-Yve, Bibert, Stéphanie, Boillat, Noémie, Nussle, Semira Gonseth, Albrich, Werner, Quinodoz, Mathieu, Kamdar, Dhryata, Suh, Noémie, Neofytos, Dionysio, Erard, Véronique, Voide, Cathy, Friolet, R., Vollenweider, P., Pagani, J. L., Oddo, M., zu Bentrup, F. Meyer, Conen, A., Clerc, O., Marchetti, O., Guillet, A., Guyat-Jacques, C., Foucras, S., Rime, M., Chassot, J., Jaquet, M., Viollet, R. Merlet, Lannepoudenx, Y., Portopena, L., Bochud, P. Y., Desgranges, F., Filippidis, P., Guéry, B., Haefliger, D., Kampouri, E. E., Manuel, O., Munting, A., Papadimitriou-Olivgeris, M., Regina, J., Rochat-Stettler, L., Suttels, V., Tadini, E., Tschopp, J., Van Singer, M., Viala, B., Boillat-Blanco, N., Brahier, T., Hügli, O., Meuwly, J. Y., Pantet, O., Gonseth Nussle, S., Bochud, M., D’Acremont, V., Estoppey Younes, S., Albrich, W. C., Suh, N., Cerny, A., O’Mahony, L., von Mering, C., Frischknecht, M., Kleger, G-R., Filipovic, M., Kahlert, C. R., Wozniak, H., Negro, T. Rochat, Pugin, J., Bouras, K., Knapp, C., Egger, T., Perret, A., Montillier, P., di Bartolomeo, C., Barda, B., de Cid, Rafael, Carreras, Anna, Moreno, Victor, Kogevinas, Manoli, Galván-Femenía, Iván, Blay, Natalia, Farré, Xavier, Sumoy, Lauro, Cortés, Beatriz, Mercader, Josep Maria, Guindo-Martinez, Marta, Torrents, David, Garcia-Aymerich, Judith, Castaño-Vinyals, Gemma, Dobaño, Carlota, Gori, Marco, Renieri, Alessandra, Mari, Francesca, Mondelli, Mario Umberto, Castelli, Francesco, Vaghi, Massimo, Rusconi, Stefano, Montagnani, Francesca, Bargagli, Elena, Franchi, Federico, Mazzei, Maria Antonietta, Cantarini, Luca, Tacconi, Danilo, Feri, Marco, Scala, Raffaele, Spargi, Genni, Nencioni, Cesira, Bandini, Maria, Caldarelli, Gian Piero, Canaccini, Anna, Ognibene, Agostino, D’Arminio Monforte, Antonella, Girardis, Massimo, Antinori, Andrea, Francisci, Daniela, Schiaroli, Elisabetta, Scotton, Pier Giorgio, Panese, Sandro, Scaggiante, Renzo, Monica, Matteo Della, Capasso, Mario, Fiorentino, 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Andretta, Francesca, Gatti, Francesca, Parisi, Saverio Giuseppe, Baratti, Stefano, Piscopo, Carmelo, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Carella, Massimo, Merla, Giuseppe, Squeo, Gabriella Maria, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Sanguinetti, Maurizio, Giorli, Alessia, Salerni, Lorenzo, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Coiro, Gabriella, Lena, Fabio, Martinelli, Enrico, Mancarella, Sandro, Gabbi, Chiara, Maggiolo, Franco, Ripamonti, Diego, Bachetti, Tiziana, Suardi, Claudia, Parati, Gianfranco, Bottà, Giordano, Domenico, Paolo Di, Rancan, Ilaria, Bianchi, Francesco, Colombo, Riccardo, Barbieri, Chiara, Acquilini, Donatella, Andreucci, Elena, Segala, Francesco Vladimiro, Tiseo, Giusy, Falcone, Marco, Lista, Mirjam, Poscente, Monica, Vivo, Oreste De, Petrocelli, Paola, Guarnaccia, Alessandra, Baroni, Silvia, van Heel, David A., Hunt, Karen A., Trembath, Richard C., Huang, Qin Qin, Martin, Hilary C., Mason, Dan, Trivedi, Bhavi, Wright, John, Finer, Sarah, Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Ashraf, Samina, Breen, Gerome, Chung, Raymond, Curtis, Charles J., Chowdhury, Maharun, Colligan, Grainne, Deloukas, Pano, Durham, Ceri, Griffiths, Chri, Hurles, Matt, Hussain, Shapna, Islam, Kamrul, Khan, Ahsan, Khan, Amara, Lavery, Cath, Lee, Sang Hyuck, Lerner, Robin, MacArthur, Daniel, MacLaughlin, Bev, Martin, Hilary, Miah, Shefa, Newman, Bill, Safa, Nishat, Tahmasebi, Farah, Griffiths, Christopher J., Smith, Albert V., Boughton, Andrew P., Li, Kevin W., LeFaive, Jonathon, Annis, Aubrey, Niavarani, Ahmadreza, Aliannejad, Rasoul, Sharififard, Bahareh, Amirsavadkouhi, Ali, Naderpour, Zeinab, Tadi, Hengameh Ansari, Aleagha, Afshar Etemadi, Ahmadi, Saeideh, Moghaddam, Seyed Behrooz Mohseni, Adamsara, Alireza, Saeedi, Morteza, Abdollahi, Hamed, Hosseini, Abdolmajid, Chariyavilaskul, Pajaree, Jantarabenjakul, Watsamon, Hirankarn, Nattiya, Chamnanphon, Monpat, Suttichet, Thitima B., Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Putchareon, Opa, Torvorapanit, Pattama, Puthanakit, Thanyawee, Suchartlikitwong, Pintip, Nilaratanakul, Voraphoj, Sodsai, Pimpayao, Brumpton, Ben M., Hveem, Kristian, Willer, Cristen, Zhou, Wei, Rogne, Tormod, Solligard, Erik, Åsvold, Bjørn Olav, Franke, Lude, Boezen, Marike, Deelen, Patrick, Claringbould, Annique, Lopera, Esteban, Warmerdam, Robert, Vonk, Judith. M., van Blokland, Irene, Lanting, Pauline, Ori, Anil P. S., Feng, Yen-Chen Anne, Mercader, Josep, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Murphy, Shawn N., Meigs, James B., Woolley, Ann E., Green, Robert C., Perez, Emma F., Zöllner, Sebastian, Wang, Jiongming, Beck, Andrew, Sloofman, Laura G., Ascolillo, Steven, Sebra, Robert P., Collins, Brett L., Levy, Te, Buxbaum, Joseph D., Sealfon, Stuart C., Jordan, Daniel M., Thompson, Ryan C., Gettler, Kyle, Chaudhary, Kumardeep, Belbin, Gillian M., Preuss, Michael, Hoggart, Clive, Choi, Sam, Underwood, Slayton J., Salib, Irene, Britvan, Bari, Keller, Katherine, Tang, Lara, Peruggia, Michael, Hiester, Liam L., Niblo, Kristi, Aksentijevich, Alexandra, Labkowsky, Alexander, Karp, Avromie, Zlatopolsky, Menachem, Zyndorf, Marissa, Charney, Alexander W., Beckmann, Noam D., Schadt, Eric E., Abul-Husn, Noura S., Cho, Judy H., Itan, Yuval, Kenny, Eimear E., Loos, Ruth J. F., Nadkarni, Girish N., Do, Ron, O’Reilly, Paul, Huckins, Laura M., Ferreira, Manuel A. R., Abecasis, Goncalo R., Leader, Joseph B., Cantor, Michael N., Justice, Anne E., Carey, Dave J., Chittoor, Geetha, Josyula, Navya Shilpa, Kosmicki, Jack A., Horowitz, Julie E., Baras, Ari, Gass, Matthew C., Yadav, Ashish, Mirshahi, Tooraj, Hottenga, Jouke Jan, Bartels, Meike, de geus, Eco E. J. C., Nivard, Michel M. G., Verma, Anurag, Ritchie, Marylyn D., Rader, Daniel, Li, Binglan, Verma, Shefali S., Lucas, Anastasia, Bradford, Yuki, Abedalthagafi, Malak, Alaamery, Manal, Alshareef, Abdulraheem, Sawaji, Mona, Massadeh, Salam, AlMalik, Abdulaziz, Alqahtani, Saleh, Baraka, Dona, Harthi, Fawz Al, Alsolm, Ebtehal, Safieh, Leen Abu, Alowayn, Albandary M., Alqubaishi, Fatimah, Mutairi, Amal Al, Mangul, Serghei, Almutairi, Mansour, Aljawini, Nora, Albesher, Nour, Arabi, Yaseen M., Mahmoud, Ebrahim S., Khattab, Amin K., Halawani, Roaa T., Alahmadey, Ziab Z., Albakri, Jehad K., Felemban, Walaa A., Suliman, Bandar A., Hasanato, Rana, Al-Awdah, Laila, Alghamdi, Jahad, AlZahrani, Deema, AlJohani, Sameera, Al-Afghani, Hani, AlDhawi, Nouf, AlBardis, Hadeel, Alkwai, Sarah, Alswailm, Moneera, Almalki, Faisal, Albeladi, Maha, Almohammed, Iman, Barhoush, Eman, Albader, Anoud, Alotaibi, Sara, Alghamdi, Bader, Jung, Junghyun, fawzy, Mohammad S., Alrashed, May, Zeberg, Hugo, Nkambul, Lindo, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklo, Tardif, Nicola, Rooyackers, Olav, Grip, Jonathan, Maricic, Tomislav, Helgeland, Øyvind, Magnus, Per, Trogstad, Lill-Iren S., Lee, Yunsung, Harris, Jennifer R., Mangino, Massimo, Spector, Tim D., Emma, Duncan, Moutsianas, Louka, Caulfield, Mark J., Scott, Richard H., Kousathanas, Athanasio, Pasko, Dorota, Walker, Susan, Stuckey, Alex, Odhams, Christopher A., Rhodes, Daniel, Fowler, Tom, Rendon, Augusto, Chan, Georgia, Arumugam, Prabhu, Karczewski, Konrad J., Martin, Alicia R., Wilson, Daniel J., Spencer, Chris C. A., Crook, Derrick W., Wyllie, David H., O’Connell, Anne Marie, Atkinson, Elizabeth G., Tsuo, Kristin, Baya, Nikola, Turley, Patrick, Gupta, Rahul, Walters, Raymond K., Palmer, Duncan S., Sarma, Gopal, Cheng, Nathan, Lu, Wenhan, Churchhouse, Claire, Goldstein, Jacqueline I., King, Daniel, Seed, Cotton, Daly, Mark J., Finucane, Hilary, Bryant, Sam, Satterstrom, F. Kyle, Band, Gavin, Earle, Sarah G., Lin, Shang-Kuan, Arning, Nicola, Koelling, Nil, Armstrong, Jacob, Rudkin, Justine K., Callier, Shawneequa, Cusick, Caroline, Soranzo, Nicole, Zhao, Jing Hua, Danesh, John, Angelantonio, Emanuele Di, Butterworth, Adam S., Sun, Yan V., Huffman, Jennifer E., Cho, Kelly, O’Donnell, Christopher J., Tsao, Phil, Gaziano, J. Michael, Peloso, Gina, Ho, Yuk-Lam, Smieszek, Sandra P., Polymeropoulos, Christo, Polymeropoulos, Vasilio, Polymeropoulos, Mihael H., Przychodzen, Bartlomiej P., Fernandez-Cadenas, Israel, Planas, Anna M., Perez-Tur, Jordi, Llucià-Carol, Laia, Cullell, Natalia, Muiño, Elena, Cárcel-Márquez, Jara, DeDiego, Marta L., Iglesias, Lara Lloret, Soriano, Alex, Rico, Veronica, Agüero, Daiana, Bedini, Josep L., Lozano, Francisco, Domingo, Carlo, Robles, Veronica, Ruiz-Jaén, Francisca, Márquez, Leonardo, Gomez, Juan, Coto, Eliecer, Albaiceta, Guillermo M., García-Clemente, Marta, Dalmau, David, Arranz, Maria J., Dietl, Beatriz, Serra-Llovich, Alex, Soler, Pere, Colobrán, Roger, Martín-Nalda, Andrea, Martínez, Alba Parra, Bernardo, David, Rojo, Silvia, Fiz-López, Aida, Arribas, Elisa, de la Cal-Sabater, Paloma, Segura, Tomá, González-Villa, Esther, Serrano-Heras, Gemma, Martí-Fàbregas, Joan, Jiménez-Xarrié, Elena, de Felipe Mimbrera, Alicia, Masjuan, Jaime, García-Madrona, Sebastian, Domínguez-Mayoral, Anna, Villalonga, Joan Montaner, Menéndez-Valladares, Paloma, Chasman, Daniel I., Sesso, Howard D., Manson, JoAnn E., Buring, Julie E., Ridker, Paul M., Franco, Giulianini, Davis, Lea, Lee, Sulggi, Priest, Jame, Sankaran, Vijay G., van Heel, David, Biesecker, Le, Kerchberger, V. Eric, Baillie, J. Kenneth, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Biological Psychology, APH - Mental Health, AMS - Sports, AMS - Ageing & Vitality, APH - Methodology, Mccurdy, Shannon, Mccormick, Joseph B., Macarthur, Daniel, Maclaughlin, Bev, Lefaive, Jonathon, Almalik, Abdulaziz, Alzahrani, Deema, Aljohani, Sameera, Aldhawi, Nouf, Albardis, Hadeel, Fawzy, Mohammad S., Dediego, Marta L., Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Groningen Research Institute for Asthma and COPD (GRIAC), University of Zurich, COVID-19 Host Genetics Initiative, Barcelona Supercomputing Center, COVID-19 Genetics Initiative, including authors, Institute for Molecular Medicine Finland, and Data Science Genetic Epidemiology Lab

Subjects
Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Quantitative Trait Loci, MUC5B PROMOTER POLYMORPHISM, Genome-wide association studies, COVID-19 (Malaltia), UFSP13-7 Evolution in Action: From Genomes to Ecosystems, COVID-19 (Disease), Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, SDG 3 - Good Health and Well-being, Humans, genetics, Genetic variation, Genomes, Medicinsk genetik, 1000 Multidisciplinary, Multidisciplinary, Chromosome Mapping, COVID-19, Human Genetics, 10124 Institute of Molecular Life Sciences, covid-19, 3121 General medicine, internal medicine and other clinical medicine, 570 Life sciences, biology, Medical Genetics
Abstract

Matters arising from: Mapping the human genetic architecture of COVID-19 Original Article published on 08 July 2021 https://www.nature.com/articles/s41586-021-03767-x The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity. Here we present meta-analyses bringing together 60 studies from 25 countries (Fig. 1 and Supplementary Table 1) for three COVID-19-related phenotypes: (1) individuals critically ill with COVID-19 on the basis of requiring respiratory support in hospital or who died as a consequence of the disease (9,376 cases, of which 3,197 are new in this data release, and 1,776,645 control individuals); (2) individuals with moderate or severe COVID-19 defined as those hospitalized due to symptoms associated with the infection (25,027 cases, 11,386 new and 2,836,272 control individuals); and (3) all cases with reported SARS-CoV-2 infection regardless of symptoms (125,584 cases, 76,022 new and 2,575,347 control individuals). Most studies have reported results before the roll out of the COVID-19 vaccination campaign. An overview of the study design is provided in Supplementary Fig. 1. We found a total of 23 genome-wide significant loci (P

Published
2022
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