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101. Associations of ABO and Rhesus D Blood Groups with Phenome-Wide Disease Incidence: A 41-year Retrospective Cohort Study of 482,914 Patients

Author: Bruun-Rasmussen, Peter, primary, Dziegiel, Morten Hanefeld, additional, Banasik, Karina, additional, Johansson, Pär Ingemar, additional, and Brunak, Søren, additional
Published: 2022
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102. Classification of Left and Right Coronary Arteries in Coronary Angiographies Using Deep Learning

Author: Eschen, Christian Kim, primary, Banasik, Karina, additional, Christensen, Alex Hørby, additional, Chmura, Piotr Jaroslaw, additional, Pedersen, Frants, additional, Køber, Lars, additional, Engstrøm, Thomas, additional, Dahl, Anders Bjorholm, additional, Brunak, Søren, additional, and Bundgaard, Henning, additional
Published: 2022
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103. Blood parameters in a population of blood donors are not affected by hidradenitis suppurativa

Author: Theut Riis, Peter, Sigsgaard, Viktoria, Pedersen, Ole Birger, Olsen, Jonas, Rigas, Andreas Stribolt, Dinh, Khoa Manh, Brodersen, Thorsten, Ullum, Henrik, Erikstrup, Christian, Paarup, Helene Martina, Nielsen, Kaspar Rene, Petersen, Mikkel Steen, Burgdorf, Kristoffer Sølvsten, Hjalgrim, Henrik, Rostgaard, Klaus, Banasik, Karina, and Jemec, Gregor
Published: 2018
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104. Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles - A Mendelian randomization analysis

Author: Helgadottir, Anna, Thorleifsson, Gudmar, Snaebjarnarson, Audunn, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Björnsson, Eyþór, Steinthorsdottir, Valgerdur, Gretarsdottir, Solveig, Helgason, Hannes, Saemundsdottir, Jona, Olafsson, Isleifur, Thune, Jens Jakob, Axelsson Raja, Anna, Ghouse, Jonas, Olesen, Morten Salling, Christensen, Alex, Jacobsen, Rikke Louise, Dowsett, Joseph, Bruun, Mie Topholm, Nielsen, Kaspar, Knowlton, Kirk, Nadauld, Lincoln, Benediktsson, Rafn, Erikstrup, Christian, Pedersen, Ole B, Banasik, Karina, Brunak, Søren, Bundgaard, Henning, Ostrowski, Sisse R, Sulem, Patrick, Arnar, David O, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Kari, Holm, Hilma, Helgadottir, Anna, Thorleifsson, Gudmar, Snaebjarnarson, Audunn, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Björnsson, Eyþór, Steinthorsdottir, Valgerdur, Gretarsdottir, Solveig, Helgason, Hannes, Saemundsdottir, Jona, Olafsson, Isleifur, Thune, Jens Jakob, Axelsson Raja, Anna, Ghouse, Jonas, Olesen, Morten Salling, Christensen, Alex, Jacobsen, Rikke Louise, Dowsett, Joseph, Bruun, Mie Topholm, Nielsen, Kaspar, Knowlton, Kirk, Nadauld, Lincoln, Benediktsson, Rafn, Erikstrup, Christian, Pedersen, Ole B, Banasik, Karina, Brunak, Søren, Bundgaard, Henning, Ostrowski, Sisse R, Sulem, Patrick, Arnar, David O, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Kari, and Holm, Hilma
Published: 2022

105. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals:An IMI DIRECT study

Author: Wesolowska-Andersen, Agata, Brorsson, Caroline A., Bizzotto, Roberto, Mari, Andrea, Tura, Andrea, Koivula, Robert, Mahajan, Anubha, Vinuela, Ana, Tajes, Juan Fernandez, Sharma, Sapna, Haid, Mark, Prehn, Cornelia, Artati, Anna, Hong, Mun Gwan, Musholt, Petra B., Kurbasic, Azra, Masi, Federico De, Tsirigos, Kostas, Pedersen, Helle Krogh, Gudmundsdottir, Valborg, Thomas, Cecilia Engel, Banasik, Karina, Jennison, Chrisopher, Jones, Angus, Kennedy, Gwen, Bell, Jimmy, Thomas, Louise, Frost, Gary, Thomsen, Henrik, Allin, Kristine, Hansen, Tue Haldor, Vestergaard, Henrik, Hansen, Torben, Rutters, Femke, Elders, Petra, t'Hart, Leen, Bonnefond, Amelie, Canouil, Mickaël, Brage, Soren, Kokkola, Tarja, Heggie, Alison, McEvoy, Donna, Hattersley, Andrew, McDonald, Timothy, Teare, Harriet, Ridderstrale, Martin, Walker, Mark, Forgie, Ian, Pedersen, Oluf, Brunak, Søren, Wesolowska-Andersen, Agata, Brorsson, Caroline A., Bizzotto, Roberto, Mari, Andrea, Tura, Andrea, Koivula, Robert, Mahajan, Anubha, Vinuela, Ana, Tajes, Juan Fernandez, Sharma, Sapna, Haid, Mark, Prehn, Cornelia, Artati, Anna, Hong, Mun Gwan, Musholt, Petra B., Kurbasic, Azra, Masi, Federico De, Tsirigos, Kostas, Pedersen, Helle Krogh, Gudmundsdottir, Valborg, Thomas, Cecilia Engel, Banasik, Karina, Jennison, Chrisopher, Jones, Angus, Kennedy, Gwen, Bell, Jimmy, Thomas, Louise, Frost, Gary, Thomsen, Henrik, Allin, Kristine, Hansen, Tue Haldor, Vestergaard, Henrik, Hansen, Torben, Rutters, Femke, Elders, Petra, t'Hart, Leen, Bonnefond, Amelie, Canouil, Mickaël, Brage, Soren, Kokkola, Tarja, Heggie, Alison, McEvoy, Donna, Hattersley, Andrew, McDonald, Timothy, Teare, Harriet, Ridderstrale, Martin, Walker, Mark, Forgie, Ian, Pedersen, Oluf, and Brunak, Søren
Published: 2022

106. Clinical, genetic, and experimental increase in soluble urokinase plasminogen activator receptor levels promotes atherosclerosis

Author: Hindy, George, Tyrrell, Daniel J, Vasbinder, Alexi, Wei, Changli, Presswalla, Feriel, Wang, Hui, Blakely, Pennelope K, Ozel, Ayse Bilge, Graham, Sarah E, Holton, Grace H, Dowsett, Joseph, Fahed, Akl C, Amadi, Kingsley-Michael, Erne, Grace K, Tekumulla, Annika, Ismail, Anis, Launius, Christopher, Sotoodehnia, Nona, Pankow, James S, Thørner, Lise Wegner, Erikstrup, Christian, Pedersen, Ole Birger, Banasik, Karina, Brunak, Søren, Ullum, Henrik, Eugen-Olsen, Jesper, Ostrowski, Sisse Rye, Haas, Mary E, Nielsen, Jonas B, Lotta, Luca A, Engström, Gunnar, Melander, Olle, Orho-Melander, Marju, Zhao, Lili, Murthy, Venkatesh L, Pinsky, David J, Willer, Cristen J, Heckbert, Susan R, Reiser, Jochen, Goldstein, Daniel R, Desch, Karl C, Hayek, Salim S, Hindy, George, Tyrrell, Daniel J, Vasbinder, Alexi, Wei, Changli, Presswalla, Feriel, Wang, Hui, Blakely, Pennelope K, Ozel, Ayse Bilge, Graham, Sarah E, Holton, Grace H, Dowsett, Joseph, Fahed, Akl C, Amadi, Kingsley-Michael, Erne, Grace K, Tekumulla, Annika, Ismail, Anis, Launius, Christopher, Sotoodehnia, Nona, Pankow, James S, Thørner, Lise Wegner, Erikstrup, Christian, Pedersen, Ole Birger, Banasik, Karina, Brunak, Søren, Ullum, Henrik, Eugen-Olsen, Jesper, Ostrowski, Sisse Rye, Haas, Mary E, Nielsen, Jonas B, Lotta, Luca A, Engström, Gunnar, Melander, Olle, Orho-Melander, Marju, Zhao, Lili, Murthy, Venkatesh L, Pinsky, David J, Willer, Cristen J, Heckbert, Susan R, Reiser, Jochen, Goldstein, Daniel R, Desch, Karl C, and Hayek, Salim S
Abstract: People with kidney disease are disproportionately affected by atherosclerosis for unclear reasons. Soluble urokinase plasminogen activator receptor (suPAR) is an immune-derived mediator of kidney disease, levels of which are strongly associated with cardiovascular outcomes. We assessed suPAR's pathogenic involvement in atherosclerosis using epidemiologic, genetic, and experimental approaches. We found serum suPAR levels to be predictive of coronary artery calcification and cardiovascular events in 5,406 participants without known coronary disease. In a genome-wide association meta-analysis including over 25,000 individuals, we identified a missense variant in the PLAUR gene (rs4760) confirmed experimentally to lead to higher suPAR levels. Mendelian randomization analysis in the UK Biobank using rs4760 indicated a causal association between genetically predicted suPAR levels and atherosclerotic phenotypes. In an experimental model of atherosclerosis, Pcsk9 transfection in mice over-expressing suPAR (suPARTg) led to substantially increased atherosclerotic plaques with necrotic cores and macrophage infiltration compared to wild-type mice, despite similar cholesterol levels. Pre-atherosclerosis, aortas of suPARTg mice excreted higher levels of CCL2 and had higher monocyte counts compared to wild-type aortas. Aortic and circulating suPARTg monocytes exhibited a pro-inflammatory profile and enhanced chemotaxis. These findings characterize suPAR as a pathogenic factor for atherosclerosis acting at least partially through modulation of monocyte function.
Published: 2022

107. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

Author: Wesolowska-Andersen, Agata, Brorsson, Caroline A., Bizzotto, Roberto, Mari, Andrea, Tura, Andrea, Koivula, Robert, Mahajan, Anubha, Vinuela, Ana, Tajes, Juan Fernandez, Sharma, Sapna, Haid, Mark, Prehn, Cornelia, Artati, Anna, Hong, Mun Gwan, Musholt, Petra B., Kurbasic, Azra, De Masi, Federico, Tsirigos, Kostas, Pedersen, Helle Krogh, Gudmundsdottir, Valborg, Thomas, Cecilia Engel, Banasik, Karina, Jennison, Chrisopher, Jones, Angus, Kennedy, Gwen, Bell, Jimmy, Thomas, Louise, Frost, Gary, Thomsen, Henrik, Allin, Kristine, Hansen, Tue Haldor, Vestergaard, Henrik, Hansen, Torben, Rutters, Femke, Elders, Petra, t'Hart, Leen, Bonnefond, Amelie, Canouil, Mickaël, Brage, Soren, Kokkola, Tarja, Heggie, Alison, McEvoy, Donna, Hattersley, Andrew, McDonald, Timothy, Teare, Harriet, Ridderstrale, Martin, Walker, Mark, Forgie, Ian, Giordano, Giuseppe N., Froguel, Philippe, Pavo, Imre, Ruetten, Hartmut, Pedersen, Oluf, Dermitzakis, Emmanouil, Franks, Paul W., Schwenk, Jochen M., Adamski, Jerzy, Pearson, Ewan, McCarthy, Mark I., Brunak, Søren, Wesolowska-Andersen, Agata, Brorsson, Caroline A., Bizzotto, Roberto, Mari, Andrea, Tura, Andrea, Koivula, Robert, Mahajan, Anubha, Vinuela, Ana, Tajes, Juan Fernandez, Sharma, Sapna, Haid, Mark, Prehn, Cornelia, Artati, Anna, Hong, Mun Gwan, Musholt, Petra B., Kurbasic, Azra, De Masi, Federico, Tsirigos, Kostas, Pedersen, Helle Krogh, Gudmundsdottir, Valborg, Thomas, Cecilia Engel, Banasik, Karina, Jennison, Chrisopher, Jones, Angus, Kennedy, Gwen, Bell, Jimmy, Thomas, Louise, Frost, Gary, Thomsen, Henrik, Allin, Kristine, Hansen, Tue Haldor, Vestergaard, Henrik, Hansen, Torben, Rutters, Femke, Elders, Petra, t'Hart, Leen, Bonnefond, Amelie, Canouil, Mickaël, Brage, Soren, Kokkola, Tarja, Heggie, Alison, McEvoy, Donna, Hattersley, Andrew, McDonald, Timothy, Teare, Harriet, Ridderstrale, Martin, Walker, Mark, Forgie, Ian, Giordano, Giuseppe N., Froguel, Philippe, Pavo, Imre, Ruetten, Hartmut, Pedersen, Oluf, Dermitzakis, Emmanouil, Franks, Paul W., Schwenk, Jochen M., Adamski, Jerzy, Pearson, Ewan, McCarthy, Mark I., and Brunak, Søren
Published: 2022

108. Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset

Author: Saevarsdottir, Saedis, Stefansdottir, Lilja, Sulem, Patrick, Thorleifsson, Gudmar, Ferkingstad, Egil, Rutsdottir, Gudrun, Glintborg, Bente, Westerlind, Helga, Grondal, Gerdur, Loft, Isabella C., Sorensen, Signe Bek, Lie, Benedicte A., Brink, Mikael, Arlestig, Lisbeth, Arnthorsson, Asgeir Orn, Baecklund, Eva, Banasik, Karina, Bank, Steffen, Bjorkman, Lena I, Ellingsen, Torkell, Erikstrup, Christian, Frei, Oleksandr, Gjertsson, Inger, Gudbjartsson, Daniel F., Gudjonsson, Sigurjon A., Halldorsson, Gisli H., Hendricks, Oliver, Hillert, Jan, Hogdall, Estrid, Jacobsen, Soren, Jensen, Dorte Vendelbo, Jonsson, Helgi, Kastbom, Alf, Kockum, Ingrid, Kristensen, Salome, Kristjansdottir, Helga, Larsen, Margit H., Linauskas, Asta, Hauge, Ellen-Margrethe, Loft, Anne G., Ludviksson, Bjorn R., Lund, Sigrun H., Markusson, Thorsteinn, Masson, Gisli, Melsted, Pall, Moore, Kristjan H. S., Munk, Heidi, Nielsen, Kaspar R., Norddahl, Gudmundur L., Oddsson, Asmundur, Olafsdottir, Thorunn A., Olason, Pall I, Olsson, Tomas, Ostrowski, Sisse Rye, Horslev-Petersen, Kim, Rognvaldsson, Solvi, Sanner, Helga, Silberberg, Gilad N., Stefansson, Hreinn, Sorensen, Erik, Sorensen, Inge J., Turesson, Carl, Bergman, Thomas, Alfredsson, Lars, Kvien, Tore K., Brunak, Soren, Steinsson, Kristjan, Andersen, Vibeke, Andreassen, Ole A., Rantapaa-Dahlqvist, Solbritt, Hetland, Merete Lund, Klareskog, Lars, Askling, Johan, Padyukov, Leonid, Pedersen, Ole Bv, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari, Saevarsdottir, Saedis, Stefansdottir, Lilja, Sulem, Patrick, Thorleifsson, Gudmar, Ferkingstad, Egil, Rutsdottir, Gudrun, Glintborg, Bente, Westerlind, Helga, Grondal, Gerdur, Loft, Isabella C., Sorensen, Signe Bek, Lie, Benedicte A., Brink, Mikael, Arlestig, Lisbeth, Arnthorsson, Asgeir Orn, Baecklund, Eva, Banasik, Karina, Bank, Steffen, Bjorkman, Lena I, Ellingsen, Torkell, Erikstrup, Christian, Frei, Oleksandr, Gjertsson, Inger, Gudbjartsson, Daniel F., Gudjonsson, Sigurjon A., Halldorsson, Gisli H., Hendricks, Oliver, Hillert, Jan, Hogdall, Estrid, Jacobsen, Soren, Jensen, Dorte Vendelbo, Jonsson, Helgi, Kastbom, Alf, Kockum, Ingrid, Kristensen, Salome, Kristjansdottir, Helga, Larsen, Margit H., Linauskas, Asta, Hauge, Ellen-Margrethe, Loft, Anne G., Ludviksson, Bjorn R., Lund, Sigrun H., Markusson, Thorsteinn, Masson, Gisli, Melsted, Pall, Moore, Kristjan H. S., Munk, Heidi, Nielsen, Kaspar R., Norddahl, Gudmundur L., Oddsson, Asmundur, Olafsdottir, Thorunn A., Olason, Pall I, Olsson, Tomas, Ostrowski, Sisse Rye, Horslev-Petersen, Kim, Rognvaldsson, Solvi, Sanner, Helga, Silberberg, Gilad N., Stefansson, Hreinn, Sorensen, Erik, Sorensen, Inge J., Turesson, Carl, Bergman, Thomas, Alfredsson, Lars, Kvien, Tore K., Brunak, Soren, Steinsson, Kristjan, Andersen, Vibeke, Andreassen, Ole A., Rantapaa-Dahlqvist, Solbritt, Hetland, Merete Lund, Klareskog, Lars, Askling, Johan, Padyukov, Leonid, Pedersen, Ole Bv, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari
Abstract: Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) and seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) and similar to 1 million controls from Northwestern Europe. We searched for causal genes outside the HLA-locus through effect on coding, mRNA expression in several tissues and/or levels of plasma proteins (SomaScan) and did network analysis (Qiagen). Results We found 25 sequence variants for RA overall, 33 for seropositive and 2 for seronegative RA, altogether 37 sequence variants at 34 non-HLA loci, of which 15 are novel. Genomic, transcriptomic and proteomic analysis of these yielded 25 causal genes in seropositive RA and additional two overall. Most encode proteins in the network of interferon-alpha/beta and IL-12/23 that signal through the JAK/STAT-pathway. Highlighting those with largest effect on seropositive RA, a rare missense variant in STAT4 (rs140675301-A) that is independent of reported non-coding STAT4-variants, increases the risk of seropositive RA 2.27-fold (p=2.1x10(-9)), more than the rs2476601-A missense variant in PTPN22 (OR=1.59, p=1.3x10(-160)). STAT4 rs140675301-A replaces hydrophilic glutamic acid with hydrophobic valine (Glu128Val) in a conserved, surface-exposed loop. A stop-mutation (rs76428106-C) in FLT3 increases seropositive RA risk (OR=1.35, p=6.6x10(-11)). Independent missense variants in TYK2 (rs34536443-C, rs12720356-C, rs35018800-A, latter two novel) associate with decreased risk of seropositive RA (ORs=0.63-0.87, p=10(-9)-10(-27)) and decreased plasma levels of interferon-alpha/beta receptor 1 that signals through TYK2/JAK1/STAT4. Conclusion Sequence variants pointing to causal genes in the JAK/STAT pathway have largest effect on seropositive RA, while associations with seronegative RA remain scarce., Funding Agencies|NORDFORSK [90825]; Swedish Research Council [2018-02803]; Swedish innovation Agency (Vinnova); Innovationsfonden; The Research Council of Norway; Region Stockholm-Karolinska Institutet; Region Vasterbotten (ALF); Danish Rheumatism Association [R194-A6956, A1923, A3037, A3570]; Swedish Brain Foundation; Nils and Bibbi Jensens Foundation; Knut and Alice Wallenberg Foundation; Margaretha af Ugglas Foundation; South-Eastern Heath Region of Norway; Health Research Fund of Central Denmark Region; Region of Southern Denmark; A.P. Moller Foundation for the Advancement of Medical Science; Colitis-Crohn Foreningen; Novo Nordisk Foundation [NNF15OC0016932]; Aase og Ejnar Danielsens Fond; Beckett-Fonden; Augustinus Fonden; Knud and Edith Eriksens Mindefond; Laege Sofus Carl Emil Friis and Hustru Olga Doris Friis Legat; Psoriasis Forskningsfonden; University of Aarhus; Region of Southern Denmarks PhD Fund [12/7725]; Department of Rheumatology, Frederiksberg Hospital; Research Council of Norway [229624, 223273]; South East and Western Norway Health Authorities; ERC AdG project SELECTionPREDISPOSED; Stiftelsen Kristian Gerhard Jebsen; Trond Mohn Foundation; Novo Nordisk Foundation; University of Bergen
Published: 2022
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109. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Author: Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C, Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M, Wienbrandt, Lars, Ortiz, Aaron Blandino, Salazar, Adolfo, Chercoles, Adolfo Garrido, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela, Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo, Braun, Alice, Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Hinney, Anke, Jensen, Björn, Banasik, Karina, Castro, Pedro, Brunak, Søren, Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C, Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M, Wienbrandt, Lars, Ortiz, Aaron Blandino, Salazar, Adolfo, Chercoles, Adolfo Garrido, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela, Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo, Braun, Alice, Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Hinney, Anke, Jensen, Björn, Banasik, Karina, Castro, Pedro, and Brunak, Søren
Abstract: Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ~ 0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.
Published: 2022

110. Hyperhidrosis and human leucocyte antigens in the Danish Blood Donor Study

Author: AS Henning, Mattias, Hother, Christoffer E., Banasik, Karina, Ibler, Kristina S., Rye Ostrowski, Sisse, Erikstrup, Christian, Nielsen, Kaspar R., Ullum, Henrik, Hjalgrim, Henrik, Hansen, Thomas F., Kaspersen, Kathrine A., Sørensen, Betina S., Sækmose, Susanne G., Jemec, Gregor B.E., Pedersen, Ole B., AS Henning, Mattias, Hother, Christoffer E., Banasik, Karina, Ibler, Kristina S., Rye Ostrowski, Sisse, Erikstrup, Christian, Nielsen, Kaspar R., Ullum, Henrik, Hjalgrim, Henrik, Hansen, Thomas F., Kaspersen, Kathrine A., Sørensen, Betina S., Sækmose, Susanne G., Jemec, Gregor B.E., and Pedersen, Ole B.
Abstract: Familial clustering of the skin disease primary hyperhidrosis suggests a genetic component to the disease. The human leucocyte antigen (HLA) is implicated in a range of diseases, including many comorbidities to hyperhidrosis. No study has investigated whether the HLA genes are involved in the pathogenesis of hyperhidrosis. We, therefore, compared HLA alleles in individuals with and without hyperhidrosis in this study of 65 000 blood donors. In this retrospective cohort study, we retrieved information on individuals with and without hyperhidrosis using self-reported questionnaires, the Danish National Patient Registry and the Danish National Prescription Registry on participants recruited to the Danish Blood Donor Study between 2010 and 2019. Association tests using logistic regression were conducted for each HLA allele corrected for sex, age, body mass index, smoking and principal components. Overall, 145 of 65 795 (0.2%) participants had hospital diagnosed hyperhidrosis. Similarly, 1379 of 15 530 (8.9%) participants had moderate-severe self-reported hyperhidrosis, of whom 447 (2.9%) had severe self-reported hyperhidrosis. Altogether, 28 participants had both hospital diagnosed and moderate-severe self-reported hyperhidrosis. Severe self-reported hyperhidrosis was associated with HLA-A*80:01 (adjusted odds ratio 26.97; 95% confidence interval 5.32-136.70; n = 7; P <.001). Moderate-severe self-reported hyperhidrosis and hospital diagnosed hyperhidrosis were not associated with any HLA. The association between hyperhidrosis and HLA-A*80:01 was based on a very small number of cases and not replicated in other patient subsets, and therefore likely a chance finding. Thus, this study suggests that genes other than the HLA are involved in the pathogenesis of hyperhidrosis.
Published: 2022

111. Estimating the effect of donor sex on red blood cell transfused patient mortality:A retrospective cohort study using a targeted learning and emulated trials-based approach

Author: Bruun-Rasmussen, Peter, Andersen, Per Kragh, Banasik, Karina, Brunak, Søren, Johansson, Pär Ingemar, Bruun-Rasmussen, Peter, Andersen, Per Kragh, Banasik, Karina, Brunak, Søren, and Johansson, Pär Ingemar
Abstract: Background: Observational studies determining the effect of red blood cell (RBC) donor sex on recipient mortality have been inconsistent. Emulating hypothetical randomized target trials using large real-world data and targeted learning may clarify potential adverse effects. Methods: In this retrospective cohort study, a RBC transfusion database from the Capital Region of Denmark comprising more than 900,000 transfusion events defined the observational data. Eligible patients were minimum 18 years, had received a leukocyte-reduced RBC transfusion, and had no history of RBC transfusions within the past year at baseline. The doubly robust targeted maximum likelihood estimation method coupled with ensembled machine learning was used to emulate sex-stratified target trials determining the comparative effectiveness of exclusively transfusing RBC units from either male or female donors. The outcome was all-cause mortality within 28 days of the baseline-transfusion. Estimates were adjusted for the total number of transfusions received on each day k, hospital of transfusion, calendar period, patient age and sex, ABO/RhD blood group of the patient, Charlson comorbidity score, the total number of transfusions received prior to day k, and the number of RBC units received on each day k from donors younger than 40 years of age. Findings: Among 98,167 adult patients who were transfused between Jan. 1, 2008, and Apr. 10, 2018, a total of 90,917 patients (54.6% female) were eligible. For male patients, the 28-day survival was 2.06 percentage points (pp) (95 % confidence interval [CI]: 1.81-2.32, P<0.0001) higher under treatment with RBC units exclusively from male donors compared with exclusively from female donors. In female patients, exclusively transfusing RBC units from either male or female donors increased the 28-day survival with 0.64pp (0.52-0.76, P<0.0001), and 0.62pp (0.49-0.75, P<0.0001) compared with the current practice, respectively. No evidence of a sex-sp
Published: 2022

112. Classification of Left and Right Coronary Arteries in Coronary Angiographies Using Deep Learning

Author: Eschen, Christian Kim, Banasik, Karina, Christensen, Alex Hørby, Chmura, Piotr Jaroslaw, Pedersen, Frants, Køber, Lars, Engstrøm, Thomas, Dahl, Anders Bjorholm, Brunak, Søren, Bundgaard, Henning, Eschen, Christian Kim, Banasik, Karina, Christensen, Alex Hørby, Chmura, Piotr Jaroslaw, Pedersen, Frants, Køber, Lars, Engstrøm, Thomas, Dahl, Anders Bjorholm, Brunak, Søren, and Bundgaard, Henning
Abstract: Multi-frame X-ray images (videos) of the coronary arteries obtained using coronary angiography (CAG) provide detailed information about the anatomy and blood flow in the coronary arteries and play a pivotal role in diagnosing and treating ischemic heart disease. Deep learning has the potential to quickly and accurately quantify narrowings and blockages of the arteries from CAG videos. A CAG consists of videos acquired separately for the left coronary artery and the right coronary artery (LCA and RCA, respectively). The pathology for LCA and RCA is typically only reported for the entire CAG, and not for the individual videos. However, training of stenosis quantification models is difficult when the RCA and LCA information of the videos are unknown. Here, we present a deep learning-based approach for classifying LCA and RCA in CAG videos. Our approach enables linkage of videos with the reported pathological findings. We manually labeled 3545 and 520 videos (approximately seven videos per CAG) to enable training and testing of the models, respectively. We obtained F1 scores of 0.99 on the test set for LCA and RCA classification LCA and RCA classification on the test set. The classification performance was further investigated with extensive experiments across different model architectures (R(2+1)D, X3D, and MVIT), model input sizes, data augmentations, and the number of videos used for training. Our results showed that CAG videos could be accurately curated using deep learning, which is an essential preprocessing step for a downstream application in diagnostics of coronary artery disease.
Published: 2022

113. The sequences of 150,119 genomes in the UK Biobank

Author: Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H.S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Pedersen, Ole Birger, Brunak, Søren, Ostrowski, Sisse Rye, Banasik, Karina, Burgdorf, Kristoffer, Didriksen, Maria, Hansen, Thomas Folkmann, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Pär Ingemar, Ullum, Henrik, Werge, Thomas, Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H.S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Pedersen, Ole Birger, Brunak, Søren, Ostrowski, Sisse Rye, Banasik, Karina, Burgdorf, Kristoffer, Didriksen, Maria, Hansen, Thomas Folkmann, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Pär Ingemar, Ullum, Henrik, and Werge, Thomas
Abstract: Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large-scale whole-genome sequencing studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on whole-exome sequencing and/or imputation.
Published: 2022

114. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Author: Degenhardt, F, Ellinghaus, D, Juzenas, S, Lerga-Jaso, J, Wendorff, M, Maya-Miles, D, Uellendahl-Werth, F, Elabd, H, Rühlemann, M, Arora, J, Özer, O, Lenning, O, Myhre, R, Vadla, M, Wacker, E, Wienbrandt, L, Ortiz, A, Salazar, A, Chercoles, A, Palom, A, Ruiz, A, Garcia-Fernandez, A, Blanco-Grau, A, Mantovani, A, Zanella, A, Holten, A, Mayer, A, Bandera, A, Cherubini, A, Protti, A, Aghemo, A, Gerussi, A, Ramirez, A, Braun, A, Nebel, A, Barreira, A, Lleo, A, Teles, A, Kildal, A, Biondi, A, Caballero-Garralda, A, Ganna, A, Gori, A, Glück, A, Lind, A, Tanck, A, Hinney, A, Nolla, A, Fracanzani, A, Peschuck, A, Cavallero, A, Dyrhol-Riise, A, Ruello, A, Julià, A, Muscatello, A, Pesenti, A, Voza, A, Rando-Segura, A, Solier, A, Schmidt, A, Cortes, B, Mateos, B, Nafria-Jimenez, B, Schaefer, B, Jensen, B, Bellinghausen, C, Maj, C, Ferrando, C, Horra, C, Quereda, C, Skurk, C, Thibeault, C, Scollo, C, Herr, C, Spinner, C, Gassner, C, Lange, C, Hu, C, Paccapelo, C, Lehmann, C, Angelini, C, Cappadona, C, Azuure, C, Bianco, C, Cea, C, Sancho, C, Hoff, D, Galimberti, D, Prati, D, Haschka, D, Jiménez, D, Pestaña, D, Toapanta, D, Muñiz-Diaz, E, Azzolini, E, Sandoval, E, Binatti, E, Scarpini, E, Helbig, E, Casalone, E, Urrechaga, E, Paraboschi, E, Pontali, E, Reverter, E, Calderón, E, Navas, E, Solligård, E, Contro, E, Arana-Arri, E, Aziz, F, Garcia, F, Sánchez, F, Ceriotti, F, Martinelli-Boneschi, F, Peyvandi, F, Kurth, F, Blasi, F, Malvestiti, F, Medrano, F, Mesonero, F, Rodriguez-Frias, F, Hanses, F, Müller, F, Hemmrich-Stanisak, G, Bellani, G, Grasselli, G, Pezzoli, G, Costantino, G, Albano, G, Cardamone, G, Bellelli, G, Citerio, G, Foti, G, Lamorte, G, Matullo, G, Baselli, G, Kurihara, H, Neb, H, My, I, Kurth, I, Hernández, I, Pink, I, Rojas, I, Galván-Femenia, I, Holter, J, Afset, J, Heyckendorf, J, Kässens, J, Damås, J, Rybniker, J, Altmüller, J, Ampuero, J, Martín, J, Erdmann, J, Banales, J, Badia, J, Dopazo, J, Schneider, J, Bergan, J, Barretina, J, Walter, J, Quero, J, Goikoetxea, J, Delgado, J, Guerrero, J, Fazaal, J, Kraft, J, Schröder, J, Risnes, K, Banasik, K, Müller, K, Gaede, K, Garcia-Etxebarria, K, Tonby, K, Heggelund, L, Izquierdo-Sanchez, L, Bettini, L, Sumoy, L, Sander, L, Lippert, L, Terranova, L, Nkambule, L, Knopp, L, Gustad, L, Garbarino, L, Santoro, L, Téllez, L, Roade, L, Ostadreza, M, Intxausti, M, Kogevinas, M, Riveiro-Barciela, M, Berger, M, Schaefer, M, Niemi, M, Gutiérrez-Stampa, M, Carrabba, M, Figuera Basso, M, Valsecchi, M, Hernandez-Tejero, M, Vehreschild, M, Manunta, M, Acosta-Herrera, M, D'Angiò, M, Baldini, M, Cazzaniga, M, Grimsrud, M, Cornberg, M, Nöthen, M, Marquié, M, Castoldi, M, Cordioli, M, Cecconi, M, D'Amato, M, Augustin, M, Tomasi, M, Boada, M, Dreher, M, Seilmaier, M, Joannidis, M, Wittig, M, Mazzocco, M, Ciccarelli, M, Rodríguez-Gandía, M, Bocciolone, M, Miozzo, M, Ayo, N, Blay, N, Chueca, N, Montano, N, Braun, N, Ludwig, N, Marx, N, Martínez, N, Cornely, O, Witzke, O, Palmieri, O, Faverio, P, Preatoni, P, Bonfanti, P, Omodei, P, Tentorio, P, Castro, P, Rodrigues, P, España, P, Hoffmann, P, Rosenstiel, P, Schommers, P, Suwalski, P, Pablo, R, Ferrer, R, Bals, R, Gualtierotti, R, Gallego-Durán, R, Nieto, R, Carpani, R, Morilla, R, Badalamenti, S, Haider, S, Ciesek, S, May, S, Bombace, S, Marsal, S, Pigazzini, S, Klein, S, Pelusi, S, Wilfling, S, Bosari, S, Volland, S, Brunak, S, Raychaudhuri, S, Schreiber, S, Heilmann-Heimbach, S, Aliberti, S, Ripke, S, Dudman, S, Wesse, T, Zheng, T, Bahmer, T, Eggermann, T, Illig, T, Brenner, T, Pumarola, T, Feldt, T, Folseraas, T, Cejudo, T, Landmesser, U, Protzer, U, Hehr, U, Rimoldi, V, Monzani, V, Skogen, V, Keitel, V, Kopfnagel, V, Friaza, V, Andrade, V, Moreno, V, Albrecht, W, Peter, W, Poller, W, Farre, X, Yi, X, Wang, X, Khodamoradi, Y, Karadeniz, Z, Latiano, A, Goerg, S, Bacher, P, Koehler, P, Tran, F, Zoller, H, Schulte, E, Heidecker, B, Ludwig, K, Fernández, J, Romero-Gómez, M, Albillos, A, Invernizzi, P, Buti, M, Duga, S, Bujanda, L, Hov, J, Lenz, T, Asselta, R, Cid, R, Valenti, L, Karlsen, T, Cáceres, M, Franke, A, Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C, Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M, Wienbrandt, Lars, Ortiz, Aaron Blandino, Salazar, Adolfo, Chercoles, Adolfo Garrido, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela, Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo, Braun, Alice, Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Tanck, Anja, Hinney, Anke, Nolla, Anna Carreras, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Muscatello, Antonio, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Nafria-Jimenez, Beatriz, Schaefer, Benedikt, Jensen, Björn, Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, Horra, Carmen, Quereda, Carmen, Skurk, Carsten, Thibeault, Charlotte, Scollo, Chiara, Herr, Christian, Spinner, Christoph D, Gassner, Christoph, Lange, Christoph, Hu, Cinzia, Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Bianco, Cristiana, Cea, Cristina, Sancho, Cristina, Hoff, Dag Arne Lihaug, Galimberti, Daniela, Prati, Daniele, Haschka, David, Jiménez, David, Pestaña, David, Toapanta, David, Muñiz-Diaz, Eduardo, Azzolini, Elena, Sandoval, Elena, Binatti, Eleonora, Scarpini, Elio, Helbig, Elisa T, Casalone, Elisabetta, Urrechaga, Eloisa, Paraboschi, Elvezia Maria, Pontali, Emanuele, Reverter, Enric, Calderón, Enrique J, Navas, Enrique, Solligård, Erik, Contro, Ernesto, Arana-Arri, Eunate, Aziz, Fátima, Garcia, Federico, Sánchez, Félix García, Ceriotti, Ferruccio, Martinelli-Boneschi, Filippo, Peyvandi, Flora, Kurth, Florian, Blasi, Francesco, Malvestiti, Francesco, Medrano, Francisco J, Mesonero, Francisco, Rodriguez-Frias, Francisco, Hanses, Frank, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Albano, Giovanni, Cardamone, Giulia, Bellelli, Giuseppe, Citerio, Giuseppe, Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido, Kurihara, Hayato, Neb, Holger, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, Rojas, Itziar, Galván-Femenia, Iván, Holter, Jan Cato, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Martín, Javier, Erdmann, Jeanette, Banales, Jesus M, Badia, Joan Ramon, Dopazo, Joaquin, Schneider, Jochen, Bergan, Jonas, Barretina, Jordi, Walter, Jörn, Quero, Jose Hernández, Goikoetxea, Josune, Delgado, Juan, Guerrero, Juan M, Fazaal, Julia, Kraft, Julia, Schröder, Julia, Risnes, Kari, Banasik, Karina, Müller, Karl Erik, Gaede, Karoline I, Garcia-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Izquierdo-Sanchez, Laura, Bettini, Laura Rachele, Sumoy, Lauro, Sander, Leif Erik, Lippert, Lena J, Terranova, Leonardo, Nkambule, Lindokuhle, Knopp, Lisa, Gustad, Lise Tuset, Garbarino, Lucia, Santoro, Luigi, Téllez, Luis, Roade, Luisa, Ostadreza, Mahnoosh, Intxausti, Maider, Kogevinas, Manolis, Riveiro-Barciela, Mar, Berger, Marc M, Schaefer, Marco, Niemi, Mari E K, Gutiérrez-Stampa, María A, Carrabba, Maria, Figuera Basso, Maria E, Valsecchi, Maria Grazia, Hernandez-Tejero, María, Vehreschild, Maria J G T, Manunta, Maria, Acosta-Herrera, Marialbert, D'Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M, Cornberg, Markus, Nöthen, Markus M, Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia, Cecconi, Maurizio, D'Amato, Mauro, Augustin, Max, Tomasi, Melissa, Boada, Mercè, Dreher, Michael, Seilmaier, Michael J, Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Miozzo, Monica, Ayo, Natale Imaz, Blay, Natalia, Chueca, Natalia, Montano, Nicola, Braun, Nicole, Ludwig, Nicole, Marx, Nikolaus, Martínez, Nilda, Cornely, Oliver A, Witzke, Oliver, Palmieri, Orazio, Faverio, Paola, Preatoni, Paoletta, Bonfanti, Paolo, Omodei, Paolo, Tentorio, Paolo, Castro, Pedro, Rodrigues, Pedro M, España, Pedro Pablo, Hoffmann, Per, Rosenstiel, Philip, Schommers, Philipp, Suwalski, Phillip, Pablo, Raúl, Ferrer, Ricard, Bals, Robert, Gualtierotti, Roberta, Gallego-Durán, Rocío, Nieto, Rosa, Carpani, Rossana, Morilla, Rubén, Badalamenti, Salvatore, Haider, Sammra, Ciesek, Sandra, May, Sandra, Bombace, Sara, Marsal, Sara, Pigazzini, Sara, Klein, Sebastian, Pelusi, Serena, Wilfling, Sibylle, Bosari, Silvano, Volland, Sonja, Brunak, Søren, Raychaudhuri, Soumya, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne, Wesse, Tanja, Zheng, Tenghao, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomas, Feldt, Torsten, Folseraas, Trine, Cejudo, Trinidad Gonzalez, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Friaza, Vicente, Andrade, Victor, Moreno, Victor, Albrecht, Wolfgang, Peter, Wolfgang, Poller, Wolfgang, Farre, Xavier, Yi, Xiaoli, Wang, Xiaomin, Khodamoradi, Yascha, Karadeniz, Zehra, Latiano, Anna, Goerg, Siegfried, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Schulte, Eva C, Heidecker, Bettina, Ludwig, Kerstin U, Fernández, Javier, Romero-Gómez, Manuel, Albillos, Agustín, Invernizzi, Pietro, Buti, Maria, Duga, Stefano, Bujanda, Luis, Hov, Johannes R, Lenz, Tobias L, Asselta, Rosanna, Cid, Rafael, Valenti, Luca, Karlsen, Tom H, Cáceres, Mario, Franke, Andre, Degenhardt, F, Ellinghaus, D, Juzenas, S, Lerga-Jaso, J, Wendorff, M, Maya-Miles, D, Uellendahl-Werth, F, Elabd, H, Rühlemann, M, Arora, J, Özer, O, Lenning, O, Myhre, R, Vadla, M, Wacker, E, Wienbrandt, L, Ortiz, A, Salazar, A, Chercoles, A, Palom, A, Ruiz, A, Garcia-Fernandez, A, Blanco-Grau, A, Mantovani, A, Zanella, A, Holten, A, Mayer, A, Bandera, A, Cherubini, A, Protti, A, Aghemo, A, Gerussi, A, Ramirez, A, Braun, A, Nebel, A, Barreira, A, Lleo, A, Teles, A, Kildal, A, Biondi, A, Caballero-Garralda, A, Ganna, A, Gori, A, Glück, A, Lind, A, Tanck, A, Hinney, A, Nolla, A, Fracanzani, A, Peschuck, A, Cavallero, A, Dyrhol-Riise, A, Ruello, A, Julià, A, Muscatello, A, Pesenti, A, Voza, A, Rando-Segura, A, Solier, A, Schmidt, A, Cortes, B, Mateos, B, Nafria-Jimenez, B, Schaefer, B, Jensen, B, Bellinghausen, C, Maj, C, Ferrando, C, Horra, C, Quereda, C, Skurk, C, Thibeault, C, Scollo, C, Herr, C, Spinner, C, Gassner, C, Lange, C, Hu, C, Paccapelo, C, Lehmann, C, Angelini, C, Cappadona, C, Azuure, C, Bianco, C, Cea, C, Sancho, C, Hoff, D, Galimberti, D, Prati, D, Haschka, D, Jiménez, D, Pestaña, D, Toapanta, D, Muñiz-Diaz, E, Azzolini, E, Sandoval, E, Binatti, E, Scarpini, E, Helbig, E, Casalone, E, Urrechaga, E, Paraboschi, E, Pontali, E, Reverter, E, Calderón, E, Navas, E, Solligård, E, Contro, E, Arana-Arri, E, Aziz, F, Garcia, F, Sánchez, F, Ceriotti, F, Martinelli-Boneschi, F, Peyvandi, F, Kurth, F, Blasi, F, Malvestiti, F, Medrano, F, Mesonero, F, Rodriguez-Frias, F, Hanses, F, Müller, F, Hemmrich-Stanisak, G, Bellani, G, Grasselli, G, Pezzoli, G, Costantino, G, Albano, G, Cardamone, G, Bellelli, G, Citerio, G, Foti, G, Lamorte, G, Matullo, G, Baselli, G, Kurihara, H, Neb, H, My, I, Kurth, I, Hernández, I, Pink, I, Rojas, I, Galván-Femenia, I, Holter, J, Afset, J, Heyckendorf, J, Kässens, J, Damås, J, Rybniker, J, Altmüller, J, Ampuero, J, Martín, J, Erdmann, J, Banales, J, Badia, J, Dopazo, J, Schneider, J, Bergan, J, Barretina, J, Walter, J, Quero, J, Goikoetxea, J, Delgado, J, Guerrero, J, Fazaal, J, Kraft, J, Schröder, J, Risnes, K, Banasik, K, Müller, K, Gaede, K, Garcia-Etxebarria, K, Tonby, K, Heggelund, L, Izquierdo-Sanchez, L, Bettini, L, Sumoy, L, Sander, L, Lippert, L, Terranova, L, Nkambule, L, Knopp, L, Gustad, L, Garbarino, L, Santoro, L, Téllez, L, Roade, L, Ostadreza, M, Intxausti, M, Kogevinas, M, Riveiro-Barciela, M, Berger, M, Schaefer, M, Niemi, M, Gutiérrez-Stampa, M, Carrabba, M, Figuera Basso, M, Valsecchi, M, Hernandez-Tejero, M, Vehreschild, M, Manunta, M, Acosta-Herrera, M, D'Angiò, M, Baldini, M, Cazzaniga, M, Grimsrud, M, Cornberg, M, Nöthen, M, Marquié, M, Castoldi, M, Cordioli, M, Cecconi, M, D'Amato, M, Augustin, M, Tomasi, M, Boada, M, Dreher, M, Seilmaier, M, Joannidis, M, Wittig, M, Mazzocco, M, Ciccarelli, M, Rodríguez-Gandía, M, Bocciolone, M, Miozzo, M, Ayo, N, Blay, N, Chueca, N, Montano, N, Braun, N, Ludwig, N, Marx, N, Martínez, N, Cornely, O, Witzke, O, Palmieri, O, Faverio, P, Preatoni, P, Bonfanti, P, Omodei, P, Tentorio, P, Castro, P, Rodrigues, P, España, P, Hoffmann, P, Rosenstiel, P, Schommers, P, Suwalski, P, Pablo, R, Ferrer, R, Bals, R, Gualtierotti, R, Gallego-Durán, R, Nieto, R, Carpani, R, Morilla, R, Badalamenti, S, Haider, S, Ciesek, S, May, S, Bombace, S, Marsal, S, Pigazzini, S, Klein, S, Pelusi, S, Wilfling, S, Bosari, S, Volland, S, Brunak, S, Raychaudhuri, S, Schreiber, S, Heilmann-Heimbach, S, Aliberti, S, Ripke, S, Dudman, S, Wesse, T, Zheng, T, Bahmer, T, Eggermann, T, Illig, T, Brenner, T, Pumarola, T, Feldt, T, Folseraas, T, Cejudo, T, Landmesser, U, Protzer, U, Hehr, U, Rimoldi, V, Monzani, V, Skogen, V, Keitel, V, Kopfnagel, V, Friaza, V, Andrade, V, Moreno, V, Albrecht, W, Peter, W, Poller, W, Farre, X, Yi, X, Wang, X, Khodamoradi, Y, Karadeniz, Z, Latiano, A, Goerg, S, Bacher, P, Koehler, P, Tran, F, Zoller, H, Schulte, E, Heidecker, B, Ludwig, K, Fernández, J, Romero-Gómez, M, Albillos, A, Invernizzi, P, Buti, M, Duga, S, Bujanda, L, Hov, J, Lenz, T, Asselta, R, Cid, R, Valenti, L, Karlsen, T, Cáceres, M, Franke, A, Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C, Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M, Wienbrandt, Lars, Ortiz, Aaron Blandino, Salazar, Adolfo, Chercoles, Adolfo Garrido, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela, Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo, Braun, Alice, Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Tanck, Anja, Hinney, Anke, Nolla, Anna Carreras, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Muscatello, Antonio, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Nafria-Jimenez, Beatriz, Schaefer, Benedikt, Jensen, Björn, Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, Horra, Carmen, Quereda, Carmen, Skurk, Carsten, Thibeault, Charlotte, Scollo, Chiara, Herr, Christian, Spinner, Christoph D, Gassner, Christoph, Lange, Christoph, Hu, Cinzia, Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Bianco, Cristiana, Cea, Cristina, Sancho, Cristina, Hoff, Dag Arne Lihaug, Galimberti, Daniela, Prati, Daniele, Haschka, David, Jiménez, David, Pestaña, David, Toapanta, David, Muñiz-Diaz, Eduardo, Azzolini, Elena, Sandoval, Elena, Binatti, Eleonora, Scarpini, Elio, Helbig, Elisa T, Casalone, Elisabetta, Urrechaga, Eloisa, Paraboschi, Elvezia Maria, Pontali, Emanuele, Reverter, Enric, Calderón, Enrique J, Navas, Enrique, Solligård, Erik, Contro, Ernesto, Arana-Arri, Eunate, Aziz, Fátima, Garcia, Federico, Sánchez, Félix García, Ceriotti, Ferruccio, Martinelli-Boneschi, Filippo, Peyvandi, Flora, Kurth, Florian, Blasi, Francesco, Malvestiti, Francesco, Medrano, Francisco J, Mesonero, Francisco, Rodriguez-Frias, Francisco, Hanses, Frank, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Albano, Giovanni, Cardamone, Giulia, Bellelli, Giuseppe, Citerio, Giuseppe, Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido, Kurihara, Hayato, Neb, Holger, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, Rojas, Itziar, Galván-Femenia, Iván, Holter, Jan Cato, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Martín, Javier, Erdmann, Jeanette, Banales, Jesus M, Badia, Joan Ramon, Dopazo, Joaquin, Schneider, Jochen, Bergan, Jonas, Barretina, Jordi, Walter, Jörn, Quero, Jose Hernández, Goikoetxea, Josune, Delgado, Juan, Guerrero, Juan M, Fazaal, Julia, Kraft, Julia, Schröder, Julia, Risnes, Kari, Banasik, Karina, Müller, Karl Erik, Gaede, Karoline I, Garcia-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Izquierdo-Sanchez, Laura, Bettini, Laura Rachele, Sumoy, Lauro, Sander, Leif Erik, Lippert, Lena J, Terranova, Leonardo, Nkambule, Lindokuhle, Knopp, Lisa, Gustad, Lise Tuset, Garbarino, Lucia, Santoro, Luigi, Téllez, Luis, Roade, Luisa, Ostadreza, Mahnoosh, Intxausti, Maider, Kogevinas, Manolis, Riveiro-Barciela, Mar, Berger, Marc M, Schaefer, Marco, Niemi, Mari E K, Gutiérrez-Stampa, María A, Carrabba, Maria, Figuera Basso, Maria E, Valsecchi, Maria Grazia, Hernandez-Tejero, María, Vehreschild, Maria J G T, Manunta, Maria, Acosta-Herrera, Marialbert, D'Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M, Cornberg, Markus, Nöthen, Markus M, Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia, Cecconi, Maurizio, D'Amato, Mauro, Augustin, Max, Tomasi, Melissa, Boada, Mercè, Dreher, Michael, Seilmaier, Michael J, Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Miozzo, Monica, Ayo, Natale Imaz, Blay, Natalia, Chueca, Natalia, Montano, Nicola, Braun, Nicole, Ludwig, Nicole, Marx, Nikolaus, Martínez, Nilda, Cornely, Oliver A, Witzke, Oliver, Palmieri, Orazio, Faverio, Paola, Preatoni, Paoletta, Bonfanti, Paolo, Omodei, Paolo, Tentorio, Paolo, Castro, Pedro, Rodrigues, Pedro M, España, Pedro Pablo, Hoffmann, Per, Rosenstiel, Philip, Schommers, Philipp, Suwalski, Phillip, Pablo, Raúl, Ferrer, Ricard, Bals, Robert, Gualtierotti, Roberta, Gallego-Durán, Rocío, Nieto, Rosa, Carpani, Rossana, Morilla, Rubén, Badalamenti, Salvatore, Haider, Sammra, Ciesek, Sandra, May, Sandra, Bombace, Sara, Marsal, Sara, Pigazzini, Sara, Klein, Sebastian, Pelusi, Serena, Wilfling, Sibylle, Bosari, Silvano, Volland, Sonja, Brunak, Søren, Raychaudhuri, Soumya, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne, Wesse, Tanja, Zheng, Tenghao, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomas, Feldt, Torsten, Folseraas, Trine, Cejudo, Trinidad Gonzalez, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Friaza, Vicente, Andrade, Victor, Moreno, Victor, Albrecht, Wolfgang, Peter, Wolfgang, Poller, Wolfgang, Farre, Xavier, Yi, Xiaoli, Wang, Xiaomin, Khodamoradi, Yascha, Karadeniz, Zehra, Latiano, Anna, Goerg, Siegfried, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Schulte, Eva C, Heidecker, Bettina, Ludwig, Kerstin U, Fernández, Javier, Romero-Gómez, Manuel, Albillos, Agustín, Invernizzi, Pietro, Buti, Maria, Duga, Stefano, Bujanda, Luis, Hov, Johannes R, Lenz, Tobias L, Asselta, Rosanna, Cid, Rafael, Valenti, Luca, Karlsen, Tom H, Cáceres, Mario, and Franke, Andre
Abstract: Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended genome-wide association meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ∼0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.
Published: 2022

115. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Author: Federal Ministry of Education and Research (Germany), German Research Foundation, Novo Nordisk Foundation, Ministero della Salute, European Commission, Fondazione Cariplo, Ministero dell'Istruzione, dell'Università e della Ricerca, Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Fundación la Caixa, Eusko Jaurlaritza, Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Centro de Investigación Biomédica en Red Epidemiología y Salud Pública (España), Norwegian Research Council, German Center for Lung Research, Airway Research Center North (Germany), Miltenyi Biotec, University of Cologne, Technical University of Munich, Finnish Institute for Molecular Medicine, University of Helsinki, Saarland University, University Hospital Bonn, Bavarian State Ministry of Education, Science and the Arts, Essen University Hospital, Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C., Arora, Jatin, Özer, Onur, Salazar, Adolfo de, Risnes, Kari, Banasik, Karina, Müller, Karl Erik, Gaede, Karoline I., Pigazzini, Sara, García-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Asselta, Rosanna, Sancho, Cristina, Ruiz, Agustín, Izquierdo-Sanchez, Laura, Rachele Bettini, Laura, Sumoy, Lauro, Garrido Chercoles, Adolfo, Sander, Leif Erik, Valsecchi, Maria Grazia, Klein, Sebastian, Hernández-Tejero, María, Vehreschild, Maria J. G. T., Lihaug Hoff, Dag Arne, Roade, Luisa, Manunta, Maria, Acosta-Herrera, Marialbert, D’Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M., Urrechaga, Eloisa, Cornberg, Markus, Pelusi, Serena, Galimberti, Daniela, García-Fernández, Alba-Estela, Bals, Robert, Nöthen, Markus M., Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia, Cecconi, Maurizio, D’Amato, Mauro, Augustin, Max, Tomasi, Melissa, Prati, Daniele, Paraboschi, Elvezia Maria, Bandera, Alessandra, Braun, Alice, Boada, Mercè, Dreher, Michael, Blanco-Grau, Albert, Seilmaier, Michael J., Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Haschka, David, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Cid, Rafael de, Wilfling, Sibylle, Pontali, Emanuele, Miozzo, Monica, Imaz Ayo, Natale, Blay, Natalia, Mantovani, Alberto, Berger, Marc M., Chueca, Natalia, Montano, Nicola, Braun, Nicole, Ludwig, Nicole, Valenti, Luca, Marx, Nikolaus, Bosari, Silvano, Martínez, Nilda, Reverter, Enric, Norwegian SARS-CoV-2 Study group, Jiménez, David, Cornely, Oliver A., Witzke, Oliver, Palmieri, Orazio, Zanella, Alberto, Pa COVID-19 Study Group, Karlsen, Tom H., Faverio, Paola, Preatoni, Paoletta, Terranova, Leonardo, Bonfanti, Paolo, Pestaña, David, Omodei, Paolo, Calderón, Enrique J., Tentorio, Paolo, Castro Blázquez, Pedro, Rodrigues, Pedro M., España, Pedro Pablo, Cáceres, Mario, Hoffmann, Per, Holten, Aleksander Rygh, Rosenstiel, Philip, Toapanta, David, Contro, Ernesto, Schommers, Philipp, Suwalski, Phillip, Pablo, Raúl de, Navas, Enrique, Ferrer, Ricard, Volland, Sonja, Franke, Andre, Brunak, Søren, Raychaudhuri, Soumya, Haider, Sammra, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne, Cherubini, Alessandro, Nkambule, Lindokuhle, Wesse, Tanja, Nebel, Almut, Lenning, Ole Bernt, Albillos, Agustín, Zheng, Tenghao, The Humanitas COVID-19 Task Force, The Humanitas Gavazzeni COVID-19 Task Force, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomàs, Knopp, Lisa, Martinelli-Boneschi, Filippo, Medrano, Francisco Javier, Feldt, Torsten, Protti, Alessandro, Arana-Arri, Eunate, Folseraas, Trine, Gonzalez Cejudo, Trinidad, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Muñiz-Diaz, Eduardo, Barreira, Ana, Gustad, Lise Tuset, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Aziz, Fátima, Aghemo, Alessio, Friaza Patiño, Vicente, Andrade, Victor, Moreno, Victor, Azzolini, Elena, Albrecht, Wolfgang, Lleo, Ana, Peter, Wolfgang, Garbarino, Lucia, Poller, Wolfgang, Farré, Xavier, Yi, Xiaoli, Wang, Xiaomin, García, Federico, Khodamoradi, Yascha, Sandoval, Elena, Gerussi, Alessio, Karadeniz, Zehra, Gualtierotti, Roberta, Latiano, Anna, Goerg, Siegfried, Santoro, Luigi, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Binatti, Eleonora, Schulte, Eva C., García Sánchez, Félix, Heidecker, Bettina, Palom, Adriana, Ludwig, Kerstin U., Ramírez, Alfredo, Fernández, Javier, Téllez, Luis, Romero-Gómez, Manuel, Teles, Ana, Scarpini, Elio, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Peyvandi, Flora, Gallego-Durán, Rocío, Tanck, Anja, Mesonero, Francisco, Helbig, Elisa T., Hinney, Anke, Carreras Nolla, Anna, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Nieto, Rosa, Schaefer, Marco, Muscatello, Antonio, Kurth, Florian, Ostadreza, Mahnoosh, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier-López, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Rodríguez-Frías, Francisco, Carpani, Rossana, Nafría-Jiménez, Beatriz, Schaefer, Benedikt, Jensen, Björn, Intxausti, Maider, Blasi, Francesco, Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, Horra, Carmen de la, Hanses, Frank, Quereda, Carmen, Mayer, Alena, Skurk, Carsten, Thibeault, Charlotte, Scollo, Chiara, Herr, Christian, Kogevinas, Manolis, Spinner, Christoph D., Malvestiti, Francesco, Gassner, Christoph, Invernizzi, Pietro, Lange, Christoph, Hu, Cinzia, Morilla Romero de la Osa, R., Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Riveiro-Barciela, Mar, COVICAT study group, Solligård, Erik, Covid-19 Aachen Study (COVAS), Myhre, Ronny, Bianco, Cristiana, Badalamenti, Salvatore, Cea, Cristina, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Vadla, May Sissel, Albano, Giovanni, Niemi, Mari, Buti, María, Cardamone, Giulia, Lippert, Lena J., Bellelli, Giuseppe, Citerio, Giuseppe, Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido, Kurihara, Hayato, Neb, Holger, Duga, Stefano, Wacker, Eike M., Gutiérrez-Stampa, María A., Ciesek, Sandra, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, Rojas, Itziar de, Galván-Femenia, Iván, Holter, Jan Cato, Bujanda, Luis, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, May, Sandra, Carrabba, Maria, Wienbrandt, Lars, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Ceriotti, Ferruccio, Martín, Javier, Erdmann, Jeanette, Banales, Jesús M., Badia, Joan Ramon, Bombace, Sara, Dopazo, Joaquín, Figuera Basso, Maria E., Schneider, Jochen, Blandino Ortiz, Aaron, Bergan, Jonas, Hov, Johannes R., Barretina, Jordi, Walter, Jörn, Hernández Quero, José, Goikoetxea-Aguirre, Josune, Delgado, Juan, Marsal, Sara, Guerrero, Juan M., Fazaal, Julia, Casalone, Elisabetta, Kraft, Julia, Lenz, Tobias L., Schröder, Julia, Federal Ministry of Education and Research (Germany), German Research Foundation, Novo Nordisk Foundation, Ministero della Salute, European Commission, Fondazione Cariplo, Ministero dell'Istruzione, dell'Università e della Ricerca, Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Fundación la Caixa, Eusko Jaurlaritza, Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Junta de Andalucía, Centro de Investigación Biomédica en Red Epidemiología y Salud Pública (España), Norwegian Research Council, German Center for Lung Research, Airway Research Center North (Germany), Miltenyi Biotec, University of Cologne, Technical University of Munich, Finnish Institute for Molecular Medicine, University of Helsinki, Saarland University, University Hospital Bonn, Bavarian State Ministry of Education, Science and the Arts, Essen University Hospital, Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham, Rühlemann, Malte C., Arora, Jatin, Özer, Onur, Salazar, Adolfo de, Risnes, Kari, Banasik, Karina, Müller, Karl Erik, Gaede, Karoline I., Pigazzini, Sara, García-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Asselta, Rosanna, Sancho, Cristina, Ruiz, Agustín, Izquierdo-Sanchez, Laura, Rachele Bettini, Laura, Sumoy, Lauro, Garrido Chercoles, Adolfo, Sander, Leif Erik, Valsecchi, Maria Grazia, Klein, Sebastian, Hernández-Tejero, María, Vehreschild, Maria J. G. T., Lihaug Hoff, Dag Arne, Roade, Luisa, Manunta, Maria, Acosta-Herrera, Marialbert, D’Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M., Urrechaga, Eloisa, Cornberg, Markus, Pelusi, Serena, Galimberti, Daniela, García-Fernández, Alba-Estela, Bals, Robert, Nöthen, Markus M., Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia, Cecconi, Maurizio, D’Amato, Mauro, Augustin, Max, Tomasi, Melissa, Prati, Daniele, Paraboschi, Elvezia Maria, Bandera, Alessandra, Braun, Alice, Boada, Mercè, Dreher, Michael, Blanco-Grau, Albert, Seilmaier, Michael J., Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Haschka, David, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Cid, Rafael de, Wilfling, Sibylle, Pontali, Emanuele, Miozzo, Monica, Imaz Ayo, Natale, Blay, Natalia, Mantovani, Alberto, Berger, Marc M., Chueca, Natalia, Montano, Nicola, Braun, Nicole, Ludwig, Nicole, Valenti, Luca, Marx, Nikolaus, Bosari, Silvano, Martínez, Nilda, Reverter, Enric, Norwegian SARS-CoV-2 Study group, Jiménez, David, Cornely, Oliver A., Witzke, Oliver, Palmieri, Orazio, Zanella, Alberto, Pa COVID-19 Study Group, Karlsen, Tom H., Faverio, Paola, Preatoni, Paoletta, Terranova, Leonardo, Bonfanti, Paolo, Pestaña, David, Omodei, Paolo, Calderón, Enrique J., Tentorio, Paolo, Castro Blázquez, Pedro, Rodrigues, Pedro M., España, Pedro Pablo, Cáceres, Mario, Hoffmann, Per, Holten, Aleksander Rygh, Rosenstiel, Philip, Toapanta, David, Contro, Ernesto, Schommers, Philipp, Suwalski, Phillip, Pablo, Raúl de, Navas, Enrique, Ferrer, Ricard, Volland, Sonja, Franke, Andre, Brunak, Søren, Raychaudhuri, Soumya, Haider, Sammra, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne, Cherubini, Alessandro, Nkambule, Lindokuhle, Wesse, Tanja, Nebel, Almut, Lenning, Ole Bernt, Albillos, Agustín, Zheng, Tenghao, The Humanitas COVID-19 Task Force, The Humanitas Gavazzeni COVID-19 Task Force, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomàs, Knopp, Lisa, Martinelli-Boneschi, Filippo, Medrano, Francisco Javier, Feldt, Torsten, Protti, Alessandro, Arana-Arri, Eunate, Folseraas, Trine, Gonzalez Cejudo, Trinidad, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Muñiz-Diaz, Eduardo, Barreira, Ana, Gustad, Lise Tuset, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Aziz, Fátima, Aghemo, Alessio, Friaza Patiño, Vicente, Andrade, Victor, Moreno, Victor, Azzolini, Elena, Albrecht, Wolfgang, Lleo, Ana, Peter, Wolfgang, Garbarino, Lucia, Poller, Wolfgang, Farré, Xavier, Yi, Xiaoli, Wang, Xiaomin, García, Federico, Khodamoradi, Yascha, Sandoval, Elena, Gerussi, Alessio, Karadeniz, Zehra, Gualtierotti, Roberta, Latiano, Anna, Goerg, Siegfried, Santoro, Luigi, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Binatti, Eleonora, Schulte, Eva C., García Sánchez, Félix, Heidecker, Bettina, Palom, Adriana, Ludwig, Kerstin U., Ramírez, Alfredo, Fernández, Javier, Téllez, Luis, Romero-Gómez, Manuel, Teles, Ana, Scarpini, Elio, Kildal, Anders Benjamin, Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea, Gori, Andrea, Glück, Andreas, Lind, Andreas, Peyvandi, Flora, Gallego-Durán, Rocío, Tanck, Anja, Mesonero, Francisco, Helbig, Elisa T., Hinney, Anke, Carreras Nolla, Anna, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Nieto, Rosa, Schaefer, Marco, Muscatello, Antonio, Kurth, Florian, Ostadreza, Mahnoosh, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier-López, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Rodríguez-Frías, Francisco, Carpani, Rossana, Nafría-Jiménez, Beatriz, Schaefer, Benedikt, Jensen, Björn, Intxausti, Maider, Blasi, Francesco, Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, Horra, Carmen de la, Hanses, Frank, Quereda, Carmen, Mayer, Alena, Skurk, Carsten, Thibeault, Charlotte, Scollo, Chiara, Herr, Christian, Kogevinas, Manolis, Spinner, Christoph D., Malvestiti, Francesco, Gassner, Christoph, Invernizzi, Pietro, Lange, Christoph, Hu, Cinzia, Morilla Romero de la Osa, R., Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Riveiro-Barciela, Mar, COVICAT study group, Solligård, Erik, Covid-19 Aachen Study (COVAS), Myhre, Ronny, Bianco, Cristiana, Badalamenti, Salvatore, Cea, Cristina, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Vadla, May Sissel, Albano, Giovanni, Niemi, Mari, Buti, María, Cardamone, Giulia, Lippert, Lena J., Bellelli, Giuseppe, Citerio, Giuseppe, Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido, Kurihara, Hayato, Neb, Holger, Duga, Stefano, Wacker, Eike M., Gutiérrez-Stampa, María A., Ciesek, Sandra, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, Rojas, Itziar de, Galván-Femenia, Iván, Holter, Jan Cato, Bujanda, Luis, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, May, Sandra, Carrabba, Maria, Wienbrandt, Lars, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Ceriotti, Ferruccio, Martín, Javier, Erdmann, Jeanette, Banales, Jesús M., Badia, Joan Ramon, Bombace, Sara, Dopazo, Joaquín, Figuera Basso, Maria E., Schneider, Jochen, Blandino Ortiz, Aaron, Bergan, Jonas, Hov, Johannes R., Barretina, Jordi, Walter, Jörn, Hernández Quero, José, Goikoetxea-Aguirre, Josune, Delgado, Juan, Marsal, Sara, Guerrero, Juan M., Fazaal, Julia, Casalone, Elisabetta, Kraft, Julia, Lenz, Tobias L., and Schröder, Julia
Abstract: Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended genome-wide association meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ~0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.
Published: 2022

116. A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

Author: Skuladottir, Astros Th, Bjornsdottir, Gyda, Ferkingstad, Egil, Einarsson, Gudmundur, Stefansdottir, Lilja, Nawaz, Muhammad Sulaman, Oddsson, Asmundur, Olafsdottir, Thorunn A., Saevarsdottir, Saedis, Walters, G. Bragi, Magnusson, Sigurdur H., Bjornsdottir, Anna, Sveinsson, Olafur A., Vikingsson, Arnor, Hansen, Thomas Folkmann, Jacobsen, Rikke Louise, Erikstrup, Christian, Schwinn, Michael, Brunak, Søren, Banasik, Karina, Ostrowski, Sisse Rye, Troelsen, Anders, Henkel, Cecilie, Pedersen, Ole Birger, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Stefansson, Kari, Skuladottir, Astros Th, Bjornsdottir, Gyda, Ferkingstad, Egil, Einarsson, Gudmundur, Stefansdottir, Lilja, Nawaz, Muhammad Sulaman, Oddsson, Asmundur, Olafsdottir, Thorunn A., Saevarsdottir, Saedis, Walters, G. Bragi, Magnusson, Sigurdur H., Bjornsdottir, Anna, Sveinsson, Olafur A., Vikingsson, Arnor, Hansen, Thomas Folkmann, Jacobsen, Rikke Louise, Erikstrup, Christian, Schwinn, Michael, Brunak, Søren, Banasik, Karina, Ostrowski, Sisse Rye, Troelsen, Anders, Henkel, Cecilie, Pedersen, Ole Birger, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, and Stefansson, Kari
Abstract: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10-24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.
Published: 2022

117. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Author: Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, Feenstra, Bjarke, Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, and Feenstra, Bjarke
Abstract: Febrile seizures represent the most common type of pathological brain activity in young children and are influenced by genetic, environmental and developmental factors. In a minority of cases, febrile seizures precede later development of epilepsy. We conducted a genome-wide association study of febrile seizures in 7635 cases and 83 966 controls identifying and replicating seven new loci, all with P < 5 × 10-10. Variants at two loci were functionally related to altered expression of the fever response genes PTGER3 and IL10, and four other loci harboured genes (BSN, ERC2, GABRG2, HERC1) influencing neuronal excitability by regulating neurotransmitter release and binding, vesicular transport or membrane trafficking at the synapse. Four previously reported loci (SCN1A, SCN2A, ANO3 and 12q21.33) were all confirmed. Collectively, the seven novel and four previously reported loci explained 2.8% of the variance in liability to febrile seizures, and the single nucleotide polymorphism heritability based on all common autosomal single nucleotide polymorphisms was 10.8%. GABRG2, SCN1A and SCN2A are well-established epilepsy genes and, overall, we found positive genetic correlations with epilepsies (rg = 0.39, P = 1.68 × 10-4). Further, we found that higher polygenic risk scores for febrile seizures were associated with epilepsy and with history of hospital admission for febrile seizures. Finally, we found that polygenic risk of febrile seizures was lower in febrile seizure patients with neuropsychiatric disease compared to febrile seizure patients in a general population sample. In conclusion, this largest genetic investigation of febrile seizures to date implicates central fever response genes as well as genes affecting neuronal excitability, including several known epilepsy genes. Further functional and genetic studies based on these findings will provide important insights into the complex pathophysiological processes of seizures with and without fever.
Published: 2022

118. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

Author: Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F., Banasik, Karina, Grove, Jakob, Climent, Clara A, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, and Feenstra, Bjarke
Published: 2022
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119. Sex differences in clinical characteristics of migraine and its burden: a population‐based study.

Author: Chalmer, Mona Ameri, Kogelman, Lisette J. A., Callesen, Ida, Christensen, Charlotte Grønvold, Techlo, Tanya Ramdal, Møller, Peter L., Davidsson, Olafur B., Olofsson, Isa A., Schwinn, Michael, Mikkelsen, Susan, Dinh, Khoa Manh, Nielsen, Kaspar, Topholm, Mie, Erikstrup, Christian, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Hjalgrim, Henrik, Banasik, Karina, Burgdorf, Kristoffer S., and Nyegaard, Mette
Subjects: SEX factors in disease, MIGRAINE aura, MIGRAINE, CHILDBEARING age, PHYSICAL activity
Abstract: Background and purpose: Understanding migraine in a sex‐specific manner is crucial for improving clinical care, diagnosis and therapy for both females and males. Here, data on sex differences are provided in the presentation of migraine in a large European‐based population cohort, which is representative of the general population. Methods: A population‐based study of 62,672 Danish blood donors (both present and previous donors), of whom 12,658 had migraine, was performed. All participants completed a 105‐item diagnostic migraine questionnaire sent via an electronic mailing system (e‐Boks) between May 2020 and August 2020. The questionnaire allowed for correct diagnosis of migraine according to the International Classification of Headache Disorders, third edition. Results: The migraine questionnaire was in‐cohort validated and had a positive predictive value of 97% for any migraine, a specificity of 93% and a sensitivity of 93%. There were 9184 females (mean age 45.1 years) and 3434 males (mean age 48.0 years). The 3‐month prevalence of migraine without aura was 11% in females and 3.59% in males. The 3‐month prevalence of migraine with aura was 1.72% in females and 1.58% in males. In females, the age‐related 3‐month prevalence of migraine without aura increased markedly during childbearing age. In males, migraine both with and without aura showed less age variation. Females had a higher frequency of migraine attacks (odds ratio [OR] 1.22) but a lower frequency of non‐migraine headaches (OR = 0.35). Females also had a greater intensity of pain, more unilateral and pulsatile pain, and exacerbation by physical activity (OR = 1.40–1.49) as well as more associated symptoms (OR = 1.26–1.98). Females carried 79% of the total migraine disease burden, which was almost exclusively driven by migraine without aura (77%), whilst there was no sex difference in the disease burden of migraine with aura. Conclusion: Females have more severe disease, resulting in a much higher migraine disease burden than indicated by prevalence alone. [ABSTRACT FROM AUTHOR]
Published: 2023
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120. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

Author: Bell, Steven, Rigas, Andreas S., Magnusson, Magnus K., Ferkingstad, Egil, Allara, Elias, Bjornsdottir, Gyda, Ramond, Anna, Sørensen, Erik, Halldorsson, Gisli H., Paul, Dirk S., Burgdorf, Kristoffer S., Eggertsson, Hannes P., Howson, Joanna M. M., Thørner, Lise W., Kristmundsdottir, Snaedis, Astle, William J., Erikstrup, Christian, Sigurdsson, Jon K., Vuckovic, Dragana, Dinh, Khoa M., Tragante, Vinicius, Surendran, Praveen, Pedersen, Ole B., Vidarsson, Brynjar, Jiang, Tao, Paarup, Helene M., Onundarson, Pall T., Akbari, Parsa, Nielsen, Kaspar R., Lund, Sigrun H., Juliusson, Kristinn, Magnusson, Magnus I., Frigge, Michael L., Oddsson, Asmundur, Olafsson, Isleifur, Kaptoge, Stephen, Hjalgrim, Henrik, Runarsson, Gudmundur, Wood, Angela M., Jonsdottir, Ingileif, Hansen, Thomas F., Sigurdardottir, Olof, Stefansson, Hreinn, Rye, David, Peters, James E., Westergaard, David, Holm, Hilma, Soranzo, Nicole, Banasik, Karina, Thorleifsson, Gudmar, Ouwehand, Willem H., Thorsteinsdottir, Unnur, Roberts, David J., Sulem, Patrick, Butterworth, Adam S., Gudbjartsson, Daniel F., Danesh, John, Brunak, Søren, Di Angelantonio, Emanuele, Ullum, Henrik, Stefansson, Kari, Andersen, Steffen, Burgdorf, Kristoffer, Jemec, Gregor, Jennum, Poul, Johansson, Pär, Nielsen, Kasper R., Nyegaard, Mette, Petersen, Mikkel, Werge, Thomas, Stefánsson, Hreinn, Thorsteinsdóttir, Unnur, Bell, Steven [0000-0001-6774-3149], Magnusson, Magnus K. [0000-0001-8593-4934], Ferkingstad, Egil [0000-0001-8090-7988], Allara, Elias [0000-0002-1634-8330], Halldorsson, Gisli H. [0000-0001-7067-9862], Paul, Dirk S. [0000-0002-8230-0116], Eggertsson, Hannes P. [0000-0002-1674-9978], Howson, Joanna M. M. [0000-0001-7618-0050], Erikstrup, Christian [0000-0001-6551-6647], Tragante, Vinicius [0000-0002-8223-8957], Pedersen, Ole B. [0000-0003-2312-5976], Paarup, Helene M. [0000-0003-1281-1567], Akbari, Parsa [0000-0001-9210-4760], Lund, Sigrun H. [0000-0002-3806-2296], Frigge, Michael L. [0000-0003-2984-535X], Oddsson, Asmundur [0000-0002-4606-5163], Jonsdottir, Ingileif [0000-0001-8339-150X], Hansen, Thomas F. [0000-0001-6703-7762], Stefansson, Hreinn [0000-0002-9331-6666], Westergaard, David [0000-0003-0128-8432], Holm, Hilma [0000-0002-9517-6636], Soranzo, Nicole [0000-0003-1095-3852], Banasik, Karina [0000-0003-2489-2499], Ouwehand, Willem H. [0000-0002-7744-1790], Sulem, Patrick [0000-0001-7123-6123], Butterworth, Adam S. [0000-0002-6915-9015], Gudbjartsson, Daniel F. [0000-0002-5222-9857], Brunak, Søren [0000-0003-0316-5866], Stefansson, Kari [0000-0003-1676-864X], and Apollo - University of Cambridge Repository
Subjects: 45, 631/208/457/649, 692/308/2056, 45/43, article
Abstract: Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = 246,139), total iron binding capacity (N = 135,430), iron (N = 163,511) and transferrin saturation (N = 131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation.
Published: 2021
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121. Hyperhidrosis and human leucocyte antigens in the Danish Blood Donor Study

Author: AS Henning, Mattias, primary, Hother, Christoffer E., additional, Banasik, Karina, additional, Ibler, Kristina S., additional, Rye Ostrowski, Sisse, additional, Erikstrup, Christian, additional, Nielsen, Kaspar R., additional, Ullum, Henrik, additional, Hjalgrim, Henrik, additional, Hansen, Thomas F., additional, Kaspersen, Kathrine A., additional, Sørensen, Betina S., additional, Sækmose, Susanne G., additional, Jemec, Gregor B. E., additional, and Pedersen, Ole B., additional
Published: 2022
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122. A genome-wide meta-analysis identifies 53 sequence variants associating with carpal tunnel syndrome

Author: Skuladottir, Astros, primary, Bjornsdottir, Gyda, additional, Ferkingstad, Egil, additional, Einarsson, Gudmundur, additional, Stefansdottir, Lilja, additional, Nawaz, Muhammad Sulaman, additional, Olafsdottir, Thorunn, additional, Saevarsdottir, Saedis, additional, Walters, G., additional, Magnusson, Sigurdur, additional, Oddson, Asmundur, additional, Bjornsdottir, Anna, additional, Sveinsson, Olafur, additional, Vikingsson, Arnor, additional, Hansen, Thomas, additional, Jacobsen, Rikke, additional, Erikstrup, Christian, additional, Schwinn, Michael, additional, Brunak, Søren, additional, Banasik, Karina, additional, Ostrowski, Sisse, additional, Troelsen, Anders, additional, Henkel, Cecilie, additional, Pedersen, Ole, additional, Jonsdottir, Ingileif, additional, Gudbjartsson, Daniel, additional, Sulem, Patrick, additional, Thorgeirsson, Thorgeir, additional, Stefansson, Hreinn, additional, and Stefansson, Kari, additional
Published: 2022
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123. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Author: Skotte, Line, primary, Fadista, João, additional, Bybjerg-Grauholm, Jonas, additional, Appadurai, Vivek, additional, Hildebrand, Michael S, additional, Hansen, Thomas F, additional, Banasik, Karina, additional, Grove, Jakob, additional, Albiñana, Clara, additional, Geller, Frank, additional, Bjurström, Carmen F, additional, Vilhjálmsson, Bjarni J, additional, Coleman, Matthew, additional, Damiano, John A, additional, Burgess, Rosemary, additional, Scheffer, Ingrid E, additional, Pedersen, Ole Birger Vesterager, additional, Erikstrup, Christian, additional, Westergaard, David, additional, Nielsen, Kaspar René, additional, Sørensen, Erik, additional, Bruun, Mie Topholm, additional, Liu, Xueping, additional, Hjalgrim, Henrik, additional, Pers, Tune H, additional, Mortensen, Preben Bo, additional, Mors, Ole, additional, Nordentoft, Merete, additional, Dreier, Julie W, additional, Børglum, Anders D, additional, Christensen, Jakob, additional, Hougaard, David M, additional, Buil, Alfonso, additional, Hviid, Anders, additional, Melbye, Mads, additional, Ullum, Henrik, additional, Berkovic, Samuel F, additional, Werge, Thomas, additional, and Feenstra, Bjarke, additional
Published: 2022
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124. Reappraisal of Sex Differences in Migraine

Author: Chalmer, Mona Ameri, primary, Callesen, Ida, additional, Kogelman, Lisette J.A., additional, Christensen, Charlotte Grønvold, additional, Techlo, Tanya Ramdal, additional, Møller, Peter L., additional, Davidsson, Olafur B., additional, Olofsson, Isa A., additional, Schwinn, Michael, additional, Mikkelsen, Susan, additional, Dinh, Khoa Manh, additional, Nielsen, Kaspar, additional, Topholm, Mie, additional, Erikstrup, Christian, additional, Ostrowski, Sisse Rye, additional, Pedersen, Ole Birger, additional, Hjalgrim, Henrik, additional, Banasik, Karina, additional, Burgdorf, Kristoffer S., additional, Nyegaard, Mette, additional, Olesen, Jes, additional, and Hansen, Thomas Folkmann, additional
Published: 2022
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125. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

Author: Wesolowska-Andersen, Agata, primary, Brorsson, Caroline A., additional, Bizzotto, Roberto, additional, Mari, Andrea, additional, Tura, Andrea, additional, Koivula, Robert, additional, Mahajan, Anubha, additional, Vinuela, Ana, additional, Tajes, Juan Fernandez, additional, Sharma, Sapna, additional, Haid, Mark, additional, Prehn, Cornelia, additional, Artati, Anna, additional, Hong, Mun-Gwan, additional, Musholt, Petra B., additional, Kurbasic, Azra, additional, De Masi, Federico, additional, Tsirigos, Kostas, additional, Pedersen, Helle Krogh, additional, Gudmundsdottir, Valborg, additional, Thomas, Cecilia Engel, additional, Banasik, Karina, additional, Jennison, Chrisopher, additional, Jones, Angus, additional, Kennedy, Gwen, additional, Bell, Jimmy, additional, Thomas, Louise, additional, Frost, Gary, additional, Thomsen, Henrik, additional, Allin, Kristine, additional, Hansen, Tue Haldor, additional, Vestergaard, Henrik, additional, Hansen, Torben, additional, Rutters, Femke, additional, Elders, Petra, additional, t’Hart, Leen, additional, Bonnefond, Amelie, additional, Canouil, Mickaël, additional, Brage, Soren, additional, Kokkola, Tarja, additional, Heggie, Alison, additional, McEvoy, Donna, additional, Hattersley, Andrew, additional, McDonald, Timothy, additional, Teare, Harriet, additional, Ridderstrale, Martin, additional, Walker, Mark, additional, Forgie, Ian, additional, Giordano, Giuseppe N., additional, Froguel, Philippe, additional, Pavo, Imre, additional, Ruetten, Hartmut, additional, Pedersen, Oluf, additional, Dermitzakis, Emmanouil, additional, Franks, Paul W., additional, Schwenk, Jochen M., additional, Adamski, Jerzy, additional, Pearson, Ewan, additional, McCarthy, Mark I., additional, and Brunak, Søren, additional
Published: 2022
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126. Rare risk variants associate with epigenetic dysregulation in migraine

Author: Techlo, Tanya Ramdal, Chalmer, Mona Ameri, Møller, Peter L., Kogelman, Lisette J. A., Olofsson, Isa A., Banasik, Karina, Nyegaard, Mette, Olesen, Jes, and Hansen, Thomas Folkmann
Abstract: Migraine has a heritability of up to 65%. Genome-wide association studies (GWAS) on migraine have identified 123 risk loci, explaining only 10.6% of migraine heritability. Thus, there is a considerable genetic component not identified with GWAS. Further, the causality of the identified risk loci remains inconclusive. Rare variants contribute to the risk of migraine but GWAS are often underpowered to detect these. Whole genome sequencing is reliable for analyzing rare variants but is not frequently used in large-scale. We assessed if rare variants in the migraine risk loci associated with migraine. We used a large cohort of whole genome sequenced migraine patients (1,040 individuals from 155 families). The findings were replicated in an independent case-control cohort (2,027 migraine patients, 1,650 controls). We found rare variants (minor allele frequency
Published: 2021
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127. Genetic variants associated with syncope implicate neural and autonomic processes.

Author: Aegisdottir, Hildur M, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Stefansson, Olafur A, Gunnarsson, Bjarni, Tragante, Vinicius, Thorleifsson, Gudmar, Stefansdottir, Lilja, Thorgeirsson, Thorgeir E, Ferkingstad, Egil, Sulem, Patrick, Norddahl, Gudmundur, Rutsdottir, Gudrun, Banasik, Karina, Christensen, Alex Hoerby, Mikkelsen, Christina, Pedersen, Ole Birger, Brunak, Søren, Bruun, Mie Topholm, and Erikstrup, Christian
Subjects: SYNCOPE, GENETIC variation, REGULATION of blood pressure, CORONARY artery disease, CARDIOVASCULAR diseases, CIS-regulatory elements (Genetics)
Abstract: Aims Syncope is a common and clinically challenging condition. In this study, the genetics of syncope were investigated to seek knowledge about its pathophysiology and prognostic implications. Methods and results This genome-wide association meta-analysis included 56 071 syncope cases and 890 790 controls from deCODE genetics (Iceland), UK Biobank (United Kingdom), and Copenhagen Hospital Biobank Cardiovascular Study/Danish Blood Donor Study (Denmark), with a follow-up assessment of variants in 22 412 cases and 286 003 controls from Intermountain (Utah, USA) and FinnGen (Finland). The study yielded 18 independent syncope variants, 17 of which were novel. One of the variants, p.Ser140Thr in PTPRN2 , affected syncope only when maternally inherited. Another variant associated with a vasovagal reaction during blood donation and five others with heart rate and/or blood pressure regulation, with variable directions of effects. None of the 18 associations could be attributed to cardiovascular or other disorders. Annotation with regard to regulatory elements indicated that the syncope variants were preferentially located in neural-specific regulatory regions. Mendelian randomization analysis supported a causal effect of coronary artery disease on syncope. A polygenic score (PGS) for syncope captured genetic correlation with cardiovascular disorders, diabetes, depression, and shortened lifespan. However, a score based solely on the 18 syncope variants performed similarly to the PGS in detecting syncope risk but did not associate with other disorders. Conclusion The results demonstrate that syncope has a distinct genetic architecture that implicates neural regulatory processes and a complex relationship with heart rate and blood pressure regulation. A shared genetic background with poor cardiovascular health was observed, supporting the importance of a thorough assessment of individuals presenting with syncope. [ABSTRACT FROM AUTHOR]
Published: 2023
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128. Acute COVID-19 severity and 16-month mental morbidity trajectories in patient populations of six nations

Author: Magnúsdóttir, Ingibjörg, primary, Lovik, Anikó, additional, Unnarsdóttir, Anna Bára, additional, McCartney, Daniel, additional, Ask, Helga, additional, Kõiv, Kadri, additional, Nordahl Christoffersen, Lea Arregui, additional, Johnson, Sverre Urnes, additional, McIntosh, Andrew, additional, Kähler, Anna K., additional, Campbell, Archie, additional, Hauksdóttir, Arna, additional, Fawns-Ritchie, Chloe, additional, Erikstrup, Christian, additional, Helenius, Dorte, additional, Altschul, Drew, additional, Thordardottir, Edda Bjork, additional, Eyþórsson, Elías, additional, Frans, Emma M., additional, Tómasson, Gunnar, additional, Jónsdóttir, Harpa Lind, additional, Rúnarsdóttir, Harpa, additional, Hjalgrim, Henrik, additional, Harðardóttir, Hrönn, additional, González-Hijón, Juan, additional, Banasik, Karina, additional, Dinh, Khoa Manh, additional, Lu, Li, additional, Milani, Lili, additional, Trogstad, Lill, additional, Didriksen, Maria, additional, Ebrahimi, Omid V., additional, Sullivan, Patrick F., additional, Magnus, Per Minor, additional, Shen, Qing, additional, Nesvåg, Ragnar, additional, Mägi, Reedik, additional, Pálsson, Runólfur, additional, Ostrowski, Sisse Rye, additional, Werge, Thomas, additional, Hoffart, Asle, additional, Porteous, David J, additional, Fang, Fang, additional, Jakobsdóttir, Jóhanna, additional, Lehto, Kelli, additional, Andreassen, Ole A, additional, Pedersen, Ole B. V., additional, Aspelund, Thor, additional, and Valdimarsdóttir, Unnur Anna, additional
Published: 2021
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129. Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases

Author: Laursen, Ina H, primary, Banasik, Karina, additional, Haue, Amalie D, additional, Petersen, Oscar, additional, Holm, Peter C, additional, Westergaard, David, additional, Bundgaard, Henning, additional, Brunak, Søren, additional, Frikke-Schmidt, Ruth, additional, Holm, Hilma, additional, Sørensen, Erik, additional, Thørner, Lise W, additional, Larsen, Margit A H, additional, Schwinn, Michael, additional, Køber, Lars, additional, Torp-Pedersen, Christian, additional, Ostrowski, Sisse R, additional, Erikstrup, Christian, additional, Nyegaard, Mette, additional, Stefánsson, Hreinn, additional, Gylfason, Arnaldur, additional, Zink, Florian, additional, Walters, G Bragi, additional, Oddsson, Asmundur, additional, Þorleifsson, Guðmar, additional, Másson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel, additional, Pedersen, Ole B, additional, Stefánsson, Kári, additional, and Ullum, Henrik, additional
Published: 2021
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130. Investigating the inflammation marker neutrophil-to-lymphocyte ratio in Danish blood donors with restless legs syndrome

Author: Dowsett, Joseph, primary, Didriksen, Maria, additional, Larsen, Margit Hørup, additional, Dinh, Khoa Manh, additional, Kaspersen, Kathrine Agergård, additional, Mikkelsen, Susan, additional, Thørner, Lise Wegner, additional, Sørensen, Erik, additional, Erikstrup, Christian, additional, Pedersen, Ole Birger, additional, Eugen-Olsen, Jesper, additional, Banasik, Karina, additional, and Ostrowski, Sisse Rye, additional
Published: 2021
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131. Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease

Author: Zheng, Tenghao Ellinghaus, David Juzenas, Simonas Cossais, Francois Burmeister, Greta Mayr, Gabriele Jorgensen, Isabella Friis Teder-Laving, Maris Skogholt, Anne Heidi and Chen, Sisi Strege, Peter R. Ito, Go Banasik, Karina and Becker, Thomas Bokelmann, Frank Brunak, Soren Buch, Stephan and Clausnitzer, Hartmut Datz, Christian Degenhardt, Frauke and Doniec, Marek Erikstrup, Christian Esko, Tonu Forster, Michael Frey, Norbert Fritsche, Lars G. Gabrielsen, Maiken Elvestad Grassle, Tobias Gsur, Andrea Gross, Justus and Hampe, Jochen Hendricks, Alexander Hinz, Sebastian Hveem, Kristian Jongen, Johannes Junker, Ralf Karlsen, Tom Hemming and Hemmrich-Stanisak, Georg Kruis, Wolfgang Kupcinskas, Juozas and Laubert, Tilman Rosenstiel, Philip C. Roecken, Christoph and Laudes, Matthias Leendertz, Fabian H. Lieb, Wolfgang and Limperger, Verena Margetis, Nikolaos Matz-Rensing, Kerstin and Nemeth, Christopher Georg Ness-Jensen, Eivind Nowak-Gottl, Ulrike Pandit, Anita Pedersen, Ole Birger Peleikis, Hans Gunter Peuker, Kenneth Rodriguez, Cristina Leal Ruehlemann, Malte Christoph Schniewind, Bodo Schulzky, Martin and Skieceviciene, Jurgita Tepel, Jurgen Thomas, Laurent and Uellendahl-Werth, Florian Ullum, Henrik Vogel, Ilka Volzke, Henry von Fersen, Lorenzo von Schonfels, Witigo Vanderwerff, Brett Wilking, Julia Wittig, Michael Zeissig, Sebastian and Zobel, Myrko Zawistowski, Matthew Vacic, Vladimir Sazonova, Olga Noblin, Elizabeth S. Farrugia, Gianrico Beyder, Arthur and Wedel, Thilo Kahlke, Volker Schafmayer, Clemens D'Amato, Mauro Franke, Andre DBDS Consortium The 23andMe Res Team
Subjects: inorganic chemicals, integumentary system, polycyclic compounds, heterocyclic compounds
Abstract: Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. Design We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. Results We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. Conclusion HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.
Published: 2021

132. Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors

Author: Ghouse, Jonas, primary, Ahlberg, Gustav, additional, Andreasen, Laura, additional, Banasik, Karina, additional, Brunak, Søren, additional, Schwinn, Michael, additional, Larsen, Ina Holst, additional, Petersen, Oscar, additional, Sørensen, Erik, additional, Ullum, Henrik, additional, Rasmussen, Eva Rye, additional, Eriksson, Niclas, additional, Hallberg, Pär, additional, Wadelius, Mia, additional, Bundgaard, Henning, additional, and Olesen, Morten S., additional
Published: 2021
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133. Impact of COVID-19 Pandemic on Sleep Quality, Stress Level and Health-Related Quality of Life—A Large Prospective Cohort Study on Adult Danes

Author: Didriksen, Maria, primary, Werge, Thomas, additional, Nissen, Janna, additional, Schwinn, Michael, additional, Sørensen, Erik, additional, Nielsen, Kaspar R., additional, Bruun, Mie T., additional, Banasik, Karina, additional, Hansen, Thomas F., additional, Erikstrup, Christian, additional, Ostrowski, Sisse R., additional, Jennum, Poul J., additional, Hjalgrim, Henrik, additional, Ullum, Henrik, additional, and Pedersen, Ole B., additional
Published: 2021
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134. Cross-tissue transcriptome-wide association studies of 885,176 individuals and seven diseases of the gut-brain axis identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

Author: Ellinghaus, David, primary, Uellendahl-Werth, Florian, additional, Maj, Carlo, additional, Borisov, Oleg, additional, Juzenas, Simonas, additional, Wacker, Eike, additional, Jørgensen, Isabella, additional, Steiert, Tim, additional, Bej, Saptarshi, additional, Consortium, The IBD Genetics, additional, Group, International PSC Study, additional, Krawitz, Peter, additional, Hoffmann, Per, additional, Schramm, Christoph, additional, Wolkenhauer, Olaf, additional, Banasik, Karina, additional, Brunak, Søren, additional, Schreiber, Stefan, additional, Karlsen, Tom, additional, Degenhardt, Franziska, additional, Nöthen, Markus, additional, Franke, Andre, additional, and Folseraas, Trine, additional
Published: 2021
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135. The impact of health-related quality of life and depressive symptoms on blood donor career - Results from the Danish blood donor study

Author: Didriksen, Maria, Thørner, Lise W., Larsen, Margit A.H., Sørensen, Erik, Burgdorf, Kristoffer, Mikkelsen, Susan, Rostgaard, Klaus, Banasik, Karina, Pedersen, Ole B., Erikstrup, Christian, Nielsen, Kaspar R., Bruun, Mie T., Hjalgrim, Henrik, Ullum, Henrik, Didriksen, Maria, Thørner, Lise W., Larsen, Margit A.H., Sørensen, Erik, Burgdorf, Kristoffer, Mikkelsen, Susan, Rostgaard, Klaus, Banasik, Karina, Pedersen, Ole B., Erikstrup, Christian, Nielsen, Kaspar R., Bruun, Mie T., Hjalgrim, Henrik, and Ullum, Henrik
Abstract: Background: Blood donors report better health-related quality of life (HRQL) than non-donors. Likewise, donors reporting good health are less likely to stop donating and have a higher donation frequency. This is evidence of the healthy donor effect (HDE). This study is the first to investigate the impact of HRQL and depressive symptoms on subsequent donor career. Study Design and Methods: Prospective cohort study includes 102,065 participants from the Danish Blood Donor Study applying the 12-item short-form health survey (SF-12) measuring a mental (MCS) and a physical component score (PCS) and the Major Depression Inventory (MDI). Poisson and Cox regression models were used to assess the effect of SF-12 and MDI scores on donation frequency and donor cessation. Higher MCS/PCS scores indicate good HRQL, while higher MDI score indicates higher experience of depressive symptoms. Results: For both sexes, MCS was positively correlated with donation frequency for up to 5 years, and similarly for PCS among women. A negative correlation between MDI score and donation frequency in the year following assessment was observed only among men. No correlation was observed among women. An increase in both MCS and PCS was associated with a lower risk of donation cessation in both sexes, while an increase in MDI score was only associated with an increased risk of donation cessation in men. Conclusion: MCS, PCS, and MDI score affect donor career. Thus, adjusting for donation frequency may reduce HDE-bias in donor health research. However, because of the small effect sizes, other ways of quantifying HDE may be beneficial.
Published: 2021

136. Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease

Author: Zheng, Tenghao, Ellinghaus, David, Juzenas, Simonas, Cossais, Francois, Burmeister, Greta, Mayr, Gabriele, Jorgensen, Isabella Friis, Teder-Laving, Maris, Skogholt, Anne Heidi, Chen, Sisi, Strege, Peter R., Ito, Go, Banasik, Karina, Becker, Thomas, Bokelmann, Frank, Brunak, Soren, Buch, Stephan, Clausnitzer, Hartmut, Datz, Christian, Degenhardt, Frauke, Doniec, Marek, Erikstrup, Christian, Esko, Tonu, Forster, Michael, Frey, Norbert, Fritsche, Lars G., Gabrielsen, Maiken Elvestad, Grassle, Tobias, Gsur, Andrea, Gross, Justus, Hampe, Jochen, Hendricks, Alexander, Hinz, Sebastian, Hveem, Kristian, Jongen, Johannes, Junker, Ralf, Karlsen, Tom Hemming, Hemmrich-Stanisak, Georg, Kruis, Wolfgang, Kupcinskas, Juozas, Laubert, Tilman, Rosenstiel, Philip C., Roecken, Christoph, Laudes, Matthias, Leendertz, Fabian H., Lieb, Wolfgang, Limperger, Verena, Margetis, Nikolaos, Matz-Rensing, Kerstin, Nemeth, Christopher Georg, Ness-Jensen, Eivind, Nowak-Gottl, Ulrike, Pandit, Anita, Pedersen, Ole Birger, Peleikis, Hans Gunter, Peuker, Kenneth, Rodriguez, Cristina Leal, Ruehlemann, Malte Christoph, Schniewind, Bodo, Schulzky, Martin, Skieceviciene, Jurgita, Tepel, Jurgen, Thomas, Laurent, Uellendahl-Werth, Florian, Ullum, Henrik, Vogel, Ilka, Volzke, Henry, von Fersen, Lorenzo, von Schonfels, Witigo, Vanderwerff, Brett, Wilking, Julia, Wittig, Michael, Zeissig, Sebastian, Zobel, Myrko, Zawistowski, Matthew, Vacic, Vladimir, Sazonova, Olga, Noblin, Elizabeth S., Farrugia, Gianrico, Beyder, Arthur, Wedel, Thilo, Kahlke, Volker, Schafmayer, Clemens, D'Amato, Mauro, Franke, Andre, Zheng, Tenghao, Ellinghaus, David, Juzenas, Simonas, Cossais, Francois, Burmeister, Greta, Mayr, Gabriele, Jorgensen, Isabella Friis, Teder-Laving, Maris, Skogholt, Anne Heidi, Chen, Sisi, Strege, Peter R., Ito, Go, Banasik, Karina, Becker, Thomas, Bokelmann, Frank, Brunak, Soren, Buch, Stephan, Clausnitzer, Hartmut, Datz, Christian, Degenhardt, Frauke, Doniec, Marek, Erikstrup, Christian, Esko, Tonu, Forster, Michael, Frey, Norbert, Fritsche, Lars G., Gabrielsen, Maiken Elvestad, Grassle, Tobias, Gsur, Andrea, Gross, Justus, Hampe, Jochen, Hendricks, Alexander, Hinz, Sebastian, Hveem, Kristian, Jongen, Johannes, Junker, Ralf, Karlsen, Tom Hemming, Hemmrich-Stanisak, Georg, Kruis, Wolfgang, Kupcinskas, Juozas, Laubert, Tilman, Rosenstiel, Philip C., Roecken, Christoph, Laudes, Matthias, Leendertz, Fabian H., Lieb, Wolfgang, Limperger, Verena, Margetis, Nikolaos, Matz-Rensing, Kerstin, Nemeth, Christopher Georg, Ness-Jensen, Eivind, Nowak-Gottl, Ulrike, Pandit, Anita, Pedersen, Ole Birger, Peleikis, Hans Gunter, Peuker, Kenneth, Rodriguez, Cristina Leal, Ruehlemann, Malte Christoph, Schniewind, Bodo, Schulzky, Martin, Skieceviciene, Jurgita, Tepel, Jurgen, Thomas, Laurent, Uellendahl-Werth, Florian, Ullum, Henrik, Vogel, Ilka, Volzke, Henry, von Fersen, Lorenzo, von Schonfels, Witigo, Vanderwerff, Brett, Wilking, Julia, Wittig, Michael, Zeissig, Sebastian, Zobel, Myrko, Zawistowski, Matthew, Vacic, Vladimir, Sazonova, Olga, Noblin, Elizabeth S., Farrugia, Gianrico, Beyder, Arthur, Wedel, Thilo, Kahlke, Volker, Schafmayer, Clemens, D'Amato, Mauro, and Franke, Andre
Abstract: Objective Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. Design We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. Results We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. Conclusion HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.
Published: 2021

137. Cohort profile:Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases

Author: Laursen, Ina H., Banasik, Karina, Haue, Amalie D., Petersen, Oscar, Holm, Peter C., Westergaard, David, Bundgaard, Henning, Brunak, Søren, Frikke-Schmidt, Ruth, Holm, Hilma, Sørensen, Erik, Thorner, Lise W., Larsen, Margit A. H., Schwinn, Michael, Køber, Lars, Torp-Pedersen, Christian, Ostrowski, Sisse R., Erikstrup, Christian, Nyegaard, Mette, Stefansson, Hreinn, Gylfason, Arnaldur, Zink, Florian, Walters, G. Bragi, Oddsson, Asmundur, Thorleifsson, Guomar, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, Pedersen, Ole B., Stefansson, Kari, Ullum, Henrik, Laursen, Ina H., Banasik, Karina, Haue, Amalie D., Petersen, Oscar, Holm, Peter C., Westergaard, David, Bundgaard, Henning, Brunak, Søren, Frikke-Schmidt, Ruth, Holm, Hilma, Sørensen, Erik, Thorner, Lise W., Larsen, Margit A. H., Schwinn, Michael, Køber, Lars, Torp-Pedersen, Christian, Ostrowski, Sisse R., Erikstrup, Christian, Nyegaard, Mette, Stefansson, Hreinn, Gylfason, Arnaldur, Zink, Florian, Walters, G. Bragi, Oddsson, Asmundur, Thorleifsson, Guomar, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, Pedersen, Ole B., Stefansson, Kari, and Ullum, Henrik
Published: 2021

138. Investigating the inflammation marker neutrophil-to-lymphocyte ratio in Danish blood donors with restless legs syndrome

Author: Dowsett, Joseph, Didriksen, Maria, Larsen, Margit Hørup, Dinh, Khoa Manh, Kaspersen, Kathrine Agergård, Mikkelsen, Susan, Thørner, Lise Wegner, Sørensen, Erik, Erikstrup, Christian, Pedersen, Ole Birger, Eugen-Olsen, Jesper, Banasik, Karina, Ostrowski, Sisse Rye, Dowsett, Joseph, Didriksen, Maria, Larsen, Margit Hørup, Dinh, Khoa Manh, Kaspersen, Kathrine Agergård, Mikkelsen, Susan, Thørner, Lise Wegner, Sørensen, Erik, Erikstrup, Christian, Pedersen, Ole Birger, Eugen-Olsen, Jesper, Banasik, Karina, and Ostrowski, Sisse Rye
Abstract: Background Restless Legs Syndrome (RLS) is a neurological sensorimotor disorder that occurs in the evening and night, thereby impacting quality of sleep in sufferers. The pathophysiology of RLS is poorly understood but inflammation has been proposed as possibly being involved. The neutrophil-to-lymphocyte ratio (NLR) can be used as an inflammation marker but results from small studies have been inconclusive in determining whether NLR is associated with RLS. We aimed to assess whether an association between NLR and RLS exists in a large cohort of healthy individuals. Methods Neutrophils and lymphocytes were measured in blood samples of 13,055 individuals from the Danish Blood Donor Study, all of whom completed the validated Cambridge-Hopkins RLS-questionnaire for RLS assessment. Results In the sample, 661 individuals were determined as current RLS cases (5.1%). A higher proportion of individuals with RLS were females (62.5% vs 47.5%; P<0.001) and RLS cases were older than controls (P<0.001), but no differences in body mass index (BMI), smoking or alcohol consumption were found between the two groups. An increased NLR was observed in RLS cases compared to controls (median NLR: 1.80 vs 1.72; P = 0.033). In an unadjusted logistic regression model, increased NLR was associated with RLS (OR = 1.10 per NLR unit increase [95%CI:1.01–1.20]; P = 0.032); however, the association was not significant in multivariate models adjusting for sex and age (P = 0.094) or sex, age, alcohol consumption, smoking status and BMI (P = 0.107). Conclusion We found no association between RLS and NLR among Danish blood donors after adjusting for sex, age, alcohol consumption, smoking status and BMI. Further studies are needed to determine whether inflammation is a risk factor for RLS.
Published: 2021

139. Association of Variants Near the Bradykinin Receptor B2 Gene With Angioedema in Patients Taking ACE Inhibitors

Author: Ghouse, Jonas, Ahlberg, Gustav, Andreasen, Laura, Banasik, Karina, Brunak, Søren, Schwinn, Michael, Larsen, Ina Holst, Petersen, Oscar, Sørensen, Erik, Ullum, Henrik, Rasmussen, Eva Rye, Eriksson, Niclas, Hallberg, Pär, Wadelius, Mia, Bundgaard, Henning, Olesen, Morten S., Ghouse, Jonas, Ahlberg, Gustav, Andreasen, Laura, Banasik, Karina, Brunak, Søren, Schwinn, Michael, Larsen, Ina Holst, Petersen, Oscar, Sørensen, Erik, Ullum, Henrik, Rasmussen, Eva Rye, Eriksson, Niclas, Hallberg, Pär, Wadelius, Mia, Bundgaard, Henning, and Olesen, Morten S.
Abstract: Background: Angioedema is a rare but potentially life-threatening adverse reaction associated with angiotensin-converting enzyme (ACE) inhibitors. Identification of potential genetic factors related to this adverse event may help identify at-risk patients. Objectives: The aim of this study was to identify genetic factors associated with ACE inhibitor–associated angioedema. Methods: A genomewide association study involving patients of European descent, all taking ACE inhibitors, was conducted in a discovery cohort (Copenhagen Hospital Biobank), and associations were confirmed in a replication cohort (Swedegene). Cases were defined as subjects with angioedema events and filled prescriptions for ACE inhibitors ≤180 days before the events. Control subjects were defined as those with continuous treatment with ACE inhibitors without any history of angioedema. Odds ratios (ORs) and 95% confidence intervals (CIs) were computed for angioedema risk using logistic mixed model regression analysis. Summary statistics from the discovery and replication cohorts were analyzed using a fixed-effects meta-analysis model. Results: The discovery cohort consisted of 462 cases and 53,391 ACE inhibitor–treated control subjects. The replication cohort consisted of 142 cases and 1,345 ACE inhibitor–treated control subjects. In the discovery cohort, 1 locus, residing at chromosome 14q32.2, was identified that associated with angioedema at the genomewide significance level of P <5 × 10–8. The lead variant at this locus, rs34485356, is an intergenic variant located 60 kb upstream of BDKRB2 (OR: 1.62; 95% CI: 1.38 to 1.90; P = 4.3 × 10−9). This variant was validated in our replication cohort with a similar direction and effect size (OR: 1.60; 95% CI: 1.13 to 2.25; P = 7.2 × 10−3). We found that carriers of the risk allele had significantly lower systolic (−0.46 mm Hg per T allele; 95% CI: −0.83 to −0.10; P = 0.013) and diastolic (−0.26 mm Hg per T allele; 9
Published: 2021

140. Impact of COVID-19 Pandemic on Sleep Quality, Stress Level and Health-Related Quality of Life - A Large Prospective Cohort Study on Adult Danes

Author: Didriksen, Maria, Werge, Thomas, Nissen, Janna, Schwinn, Michael, Sørensen, Erik, Nielsen, Kaspar R., Bruun, Mie T., Banasik, Karina, Hansen, Thomas F., Erikstrup, Christian, Ostrowski, Sisse R., Jennum, Poul J., Hjalgrim, Henrik, Ullum, Henrik, Pedersen, Ole B., Didriksen, Maria, Werge, Thomas, Nissen, Janna, Schwinn, Michael, Sørensen, Erik, Nielsen, Kaspar R., Bruun, Mie T., Banasik, Karina, Hansen, Thomas F., Erikstrup, Christian, Ostrowski, Sisse R., Jennum, Poul J., Hjalgrim, Henrik, Ullum, Henrik, and Pedersen, Ole B.
Abstract: The everyday lives of Danish inhabitants have been affected by the COVID-19 pandemic, e.g., by social distancing, which was employed by the government in March 2020 to prevent the spread of SARS-CoV-2. Moreover, the pandemic has entailed economic consequences for many people. This study aims to assess changes in physical and mental health-related quality of life (MCS, PCS), in stress levels, and quality of sleep during the COVID-19 pandemic and to identify factors that impact such changes, using a prospective national cohort study including 26,453 participants from the Danish Blood Donor Study who answered a health questionnaire before the pandemic and during the pandemic. Descriptive statistics, multivariable linear and multinomial logistic regression analyses were applied. A worsening of MCS and quality of sleep was found, and an overall decrease in stress levels was observed. PCS was decreased in men and slightly increased in women. The extent of health changes was mainly affected by changes in job situation, type of job, previous use of anti-depressive medication and the participants' level of personal stamina. Thus, living under the unusual circumstances that persisted during the COVID-19 pandemic has had a negative impact on the health of the general population. This may, in time, constitute a public health problem.
Published: 2021

141. Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor

Author: Dowsett, Joseph, Ferkingstad, Egil, Rasmussen, Line Jee Hartmann, Thørner, Lise Wegner, Magnússon, Magnús K, Sugden, Karen, Thorleifsson, Gudmar, Frigge, Mike, Burgdorf, Kristoffer Sølvsten, Ostrowski, Sisse Rye, Sørensen, Erik, Erikstrup, Christian, Pedersen, Ole Birger, Hansen, Thomas Folkmann, Banasik, Karina, Brunak, Søren, Tragante, Vinicius, Lund, Sigrun Helga, Stefansdottir, Lilja, Gunnarson, Bjarni, Poulton, Richie, Arseneault, Louise, Caspi, Avshalom, Moffitt, Terrie E, Gudbjartsson, Daníel, Eugen-Olsen, Jesper, Stefánsson, Hreinn, Stefánsson, Kári, Ullum, Henrik, Dowsett, Joseph, Ferkingstad, Egil, Rasmussen, Line Jee Hartmann, Thørner, Lise Wegner, Magnússon, Magnús K, Sugden, Karen, Thorleifsson, Gudmar, Frigge, Mike, Burgdorf, Kristoffer Sølvsten, Ostrowski, Sisse Rye, Sørensen, Erik, Erikstrup, Christian, Pedersen, Ole Birger, Hansen, Thomas Folkmann, Banasik, Karina, Brunak, Søren, Tragante, Vinicius, Lund, Sigrun Helga, Stefansdottir, Lilja, Gunnarson, Bjarni, Poulton, Richie, Arseneault, Louise, Caspi, Avshalom, Moffitt, Terrie E, Gudbjartsson, Daníel, Eugen-Olsen, Jesper, Stefánsson, Hreinn, Stefánsson, Kári, and Ullum, Henrik
Abstract: Soluble urokinase-type plasminogen activator receptor (suPAR) is a chronic inflammation marker associated with the development of a range of diseases, including cancer and cardiovascular disease. The genetics of suPAR remain unexplored but may shed light on the biology of the marker and its connection to outcomes. We report a heritability estimate of 60% for the variation in suPAR and performed a genome-wide association meta-analysis on suPAR levels measured in Iceland (N = 35,559) and in Denmark (N = 12,177). We identified 13 independently genome-wide significant sequence variants associated with suPAR across 11 distinct loci. Associated variants were found in and around genes encoding uPAR (PLAUR), its ligand uPA (PLAU), the kidney-disease-associated gene PLA2R1 as well as genes with relations to glycosylation, glycoprotein biosynthesis, and the immune response. These findings provide new insight into the causes of variation in suPAR plasma levels, which may clarify suPAR's potential role in associated diseases, as well as the underlying mechanisms that give suPAR its prognostic value as a unique marker of chronic inflammation.
Published: 2021

142. Combinations of self-reported rhinitis, conjunctivitis, and asthma predicts IgE sensitization in more than 25,000 Danes

Author: Mikkelsen, Susan, Dinh, Khoa Manh, Boldsen, Jens Kjærgaard, Pedersen, Ole Birger, Holst, Gitte Juel, Petersen, Mikkel Steen, Kaspersen, Kathrine Agergård, Møller, Bjarne Kuno, Nielsen, Kaspar Rene, Paarup, Helene Martina, Rostgaard, Klaus, Hjalgrim, Henrik, Sørensen, Erik, Handgaard, Linda Jenny, Hansen, Thomas Folkmann, Banasik, Karina, Burgdorf, Kristoffer Sølvsten, Ullum, Henrik, Sigsgaard, Torben, Erikstrup, Christian, Mikkelsen, Susan, Dinh, Khoa Manh, Boldsen, Jens Kjærgaard, Pedersen, Ole Birger, Holst, Gitte Juel, Petersen, Mikkel Steen, Kaspersen, Kathrine Agergård, Møller, Bjarne Kuno, Nielsen, Kaspar Rene, Paarup, Helene Martina, Rostgaard, Klaus, Hjalgrim, Henrik, Sørensen, Erik, Handgaard, Linda Jenny, Hansen, Thomas Folkmann, Banasik, Karina, Burgdorf, Kristoffer Sølvsten, Ullum, Henrik, Sigsgaard, Torben, and Erikstrup, Christian
Abstract: Background: Allergic rhinitis (AR), allergic conjunctivitis (AC), and asthma composing multiple phenotypes and improved understanding of these phenotypes and their respective risk factors are needed. Objectives: The objective of this study was to define the prevalence of AR, AC, and asthma and their association with allergen-specific immunoglobulin E (sIgE) sensitization in a large cohort of blood donors and identify risk factors. Methods: From the nationwide population-based Danish Blood Donor Study, 52,976 participants completed an electronic questionnaire including AR, AC, asthma, allergic predisposition, and childhood residence. Of these, 25,257 were additionally tested for sIgE to inhalation allergens (Phadiatop). Results: The prevalence of sIgE sensitization, AR, AC, and asthma was 30%, 19%, 15%, and 9%, respectively. The youngest birth cohorts had the highest prevalence of sIgE sensitization and symptoms of asthma, AR, and AC, and for asthma, they apparently experienced symptoms at an earlier age. The sIgE sensitization was positively associated with male sex. The sIgE seroprevalence was higher in participants with both AR and AC (ARC) than in participants with either AR or AC. Allergic predisposition and sIgE sensitization increased the risk of the diseases, while farm upbringing was associated with reduced prevalence of ARC, however, only in sIgE sensitized participants. Conclusion: Birth year, childhood residence, sIgE sensitization, and allergic predisposition were associated with asthma, AR, and AC prevalence. Individuals with self-reported ARC represent a primarily sIgE-positive phenotype, while those with either AR or AC represent more diverse phenotypes.
Published: 2021

143. Data Resource Profile:The Copenhagen Hospital Biobank (CHB)

Author: Sørensen, Erik, Christiansen, Lene, Wilkowski, Bartlomiej, Larsen, Margit H, Burgdorf, Kristoffer S., Thørner, Lise W, Nissen, Janna, Pedersen, Ole B, Banasik, Karina, Brunak, Søren, Bundgaard, Henning, Stefánsson, Hreinn, Stefánsson, Kari, Melbye, Mads, Ullum, Henrik, Sørensen, Erik, Christiansen, Lene, Wilkowski, Bartlomiej, Larsen, Margit H, Burgdorf, Kristoffer S., Thørner, Lise W, Nissen, Janna, Pedersen, Ole B, Banasik, Karina, Brunak, Søren, Bundgaard, Henning, Stefánsson, Hreinn, Stefánsson, Kari, Melbye, Mads, and Ullum, Henrik
Published: 2021

144. Genetic insight into sick sinus syndrome

Author: Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, and Stefansson, Kari
Abstract: AIMS: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development.METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05).CONCLUSION: We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS.
Published: 2021

145. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

Author: Skuladottir, Astros Th, Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sørensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, Stefansson, Kari, Skuladottir, Astros Th, Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sørensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, and Stefansson, Kari
Abstract: Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4–14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell’s palsy (rs9357446-A; P = 6.79 × 10−23, OR = 1.23; Ncases = 4714, Ncontrols = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10−11, OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy.
Published: 2021

146. Solute Carrier Family 2 Member 1 Is Involved in the Development of Nonalcoholic Fatty Liver Disease

Author: Vazquez-Chantada, Mercedes, Gonzalez-Lahera, Aintzane, Martinez-Arranz, Ibon, Garcia-Monzon, Carmelo, Regueiro, Manuela M., Garcia-Rodriguez, Juan L., Schlangen, Karin A., Mendibil, Iñaki, Rodriguez-Ezpeleta, Naiara, Lozano, Juan J., Banasik, Karina, Justesen, Johanne M., Joergensen, Torben, Witte, Daniel R., Lauritzen, Torsten, Hansen, Torben, Pedersen, Oluf, Veyrie, Nicolas, Clement, Karine, Tordjman, Joan, Tran, Albert, Le Marchand-Brustel, Yannik, Buque, Xabier, Aspichueta, Patricia, Echevarria-Uraga, Jose J., Martin-Duce, Antonio, Caballeria, Joan, Gual, Philippe, Castro, Azucena, Mato, Jose M., Martinez-Chantar, Maria L., and Aransay, Ana M.
Published: 2013
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147. The impact of health‐related quality of life and depressive symptoms on blood donor career—Results from the Danish blood donor study

Author: Didriksen, Maria, primary, Thørner, Lise W., additional, Larsen, Margit A. H., additional, Sørensen, Erik, additional, Burgdorf, Kristoffer, additional, Mikkelsen, Susan, additional, Rostgaard, Klaus, additional, Banasik, Karina, additional, Pedersen, Ole B., additional, Erikstrup, Christian, additional, Nielsen, Kaspar R., additional, Bruun, Mie T., additional, Hjalgrim, Henrik, additional, and Ullum, Henrik, additional
Published: 2021
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148. Combinations of self‐reported rhinitis, conjunctivitis, and asthma predicts IgE sensitization in more than 25,000 Danes

Author: Mikkelsen, Susan, primary, Dinh, Khoa Manh, additional, Boldsen, Jens Kjærgaard, additional, Pedersen, Ole Birger, additional, Holst, Gitte Juel, additional, Petersen, Mikkel Steen, additional, Kaspersen, Kathrine Agergård, additional, Møller, Bjarne Kuno, additional, Nielsen, Kaspar Rene, additional, Paarup, Helene Martina, additional, Rostgaard, Klaus, additional, Hjalgrim, Henrik, additional, Sørensen, Erik, additional, Handgaard, Linda Jenny, additional, Hansen, Thomas Folkmann, additional, Banasik, Karina, additional, Burgdorf, Kristoffer Sølvsten, additional, Ullum, Henrik, additional, Sigsgaard, Torben, additional, and Erikstrup, Christian, additional
Published: 2021
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149. The FOXO3A rs2802292 G-Allele Associates with Improved Peripheral and Hepatic Insulin Sensitivity and Increased Skeletal Muscle-FOXO3A mRNA Expression in Twins

Author: Banasik, Karina, Ribel-Madsen, Rasmus, Gjesing, Anette P., Wegner, Lise, Andersson, Åsa, Poulsen, Pernille, Borglykke, Anders, Witte, Daniel R., Pedersen, Oluf, Hansen, Torben, and Vaag, Allan
Published: 2011

150. Common variants near the bradykinin receptor B2 gene are associated with angioedema induced by angiotensin-converting-enzyme inhibitor treatment - a genome wide association study

Author: Ghouse, Jonas, primary, Ahlberg, Gustav, additional, Andreasen, Laura, additional, Banasik, Karina, additional, Brunak, Søren, additional, Schwinn, Michael, additional, Larsen, Ina Holst, additional, Petersen, Oscar, additional, Sørensen, Erik, additional, Ullum, Henrik, additional, Rasmussen, Eva Rye, additional, Eriksson, Niclas, additional, Hallberg, Pär, additional, Wadelius, Mia, additional, Bundgaard, Henning, additional, and Olesen, Morten S., additional
Published: 2020
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