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1. Longitudinal metabolite and protein trajectories prior to diabetes mellitus diagnosis in Danish blood donors: a nested case–control study

Author

Lundgaard, Agnete T., Westergaard, David, Röder, Timo, Burgdorf, Kristoffer S., Larsen, Margit H., Schwinn, Michael, Thørner, Lise W., Sørensen, Erik, Nielsen, Kaspar R., Hjalgrim, Henrik, Erikstrup, Christian, Kjerulff, Bertram D., Hindhede, Lotte, Hansen, Thomas F., Nyegaard, Mette, Birney, Ewan, Stefansson, Hreinn, Stefánsson, Kári, Pedersen, Ole B. V., Ostrowski, Sisse R., Rossing, Peter, Ullum, Henrik, Mortensen, Laust H., Vistisen, Dorte, Banasik, Karina, and Brunak, Søren

Published
2024
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2. Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors

Author

Olofsson, Isa Amalie, Kristjansson, Ragnar P., Callesen, Ida, Davidsson, Olafur, Winsvold, Bendik, Hjalgrim, Henrik, Ostrowski, Sisse R., Erikstrup, Christian, Bruun, Mie Topholm, Pedersen, Ole Birger, Burgdorf, Kristoffer S., Banasik, Karina, Sørensen, Erik, Mikkelsen, Christina, Didriksen, Maria, Dinh, Khoa Manh, Mikkelsen, Susan, Brunak, Søren, Ullum, Henrik, Chalmer, Mona Ameri, Olesen, Jes, Kogelman, Lisette J. A., and Hansen, Thomas Folkmann

Published
2024
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3. Lifestyle and demographic associations with 47 inflammatory and vascular stress biomarkers in 9876 blood donors

Author

Kjerulff, Bertram, Dowsett, Joseph, Jacobsen, Rikke Louise, Gladov, Josephine, Larsen, Margit Hørup, Lundgaard, Agnete Troen, Banasik, Karina, Westergaard, David, Mikkelsen, Susan, Dinh, Khoa Manh, Hindhede, Lotte, Kaspersen, Kathrine Agergård, Schwinn, Michael, Juul, Anders, Poulsen, Betina, Lindegaard, Birgitte, Pedersen, Carsten Bøcker, Sabel, Clive Eric, Bundgaard, Henning, Nielsen, Henriette Svarre, Møller, Janne Amstrup, Boldsen, Jens Kjærgaard, Burgdorf, Kristoffer Sølvsten, Kessing, Lars Vedel, Handgaard, Linda Jenny, Thørner, Lise Wegner, Didriksen, Maria, Nyegaard, Mette, Grarup, Niels, Ødum, Niels, Johansson, Pär I., Jennum, Poul, Frikke-Schmidt, Ruth, Berger, Sanne Schou, Brunak, Søren, Jacobsen, Søren, Hansen, Thomas Folkmann, Lundquist, Tine Kirkeskov, Hansen, Torben, Sørensen, Torben Lykke, Sigsgaard, Torben, Nielsen, Kaspar René, Bruun, Mie Topholm, Hjalgrim, Henrik, Ullum, Henrik, Rostgaard, Klaus, Sørensen, Erik, Pedersen, Ole Birger, Ostrowski, Sisse Rye, and Erikstrup, Christian

Published
2024
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4. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Author

Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L, Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H, Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F, Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S, Campbell, Archie, Cheuk, Cecilia SK, Clementi, Caterina, Cook, James, De Vivo, Immaculata, DiVasta, Amy, Dorien, O, Donoghue, Jacqueline F, Edwards, Todd, Fontanillas, Pierre, Fung, Jenny N, Geirsson, Reynir T, Girling, Jane E, Harkki, Paivi, Harris, Holly R, Healey, Martin, Heikinheimo, Oskari, Holdsworth-Carson, Sarah, Hostettler, Isabel C, Houlden, Henry, Houshdaran, Sahar, Irwin, Juan C, Jarvelin, Marjo-Riitta, Kamatani, Yoichiro, Kennedy, Stephen H, Kepka, Ewa, Kettunen, Johannes, Kubo, Michiaki, Kulig, Bartosz, Kurra, Venla, Laivuori, Hannele, Laufer, Marc R, Lindgren, Cecilia M, MacGregor, Stuart, Mangino, Massimo, Martin, Nicholas G, Matalliotaki, Charoula, Matalliotakis, Michail, Murray, Alison D, Ndungu, Anne, Nezhat, Camran, Olsen, Catherine M, Opoku-Anane, Jessica, Padmanabhan, Sandosh, Paranjpe, Manish, Peters, Maire, Polak, Grzegorz, Porteous, David J, Rabban, Joseph, Rexrode, Kathyrn M, Romanowicz, Hanna, Saare, Merli, Saavalainen, Liisu, Schork, Andrew J, Sen, Sushmita, Shafrir, Amy L, Siewierska-Górska, Anna, Słomka, Marcin, Smith, Blair H, Smolarz, Beata, Szaflik, Tomasz, Szyłło, Krzysztof, Takahashi, Atsushi, Terry, Kathryn L, Tomassetti, Carla, Treloar, Susan A, Vanhie, Arne, Vincent, Katy, Vo, Kim C, Werring, David J, Zeggini, Eleftheria, Zervou, Maria I, and Adachi, Sosuke

Subjects
Biological Sciences, Genetics, Contraception/Reproduction, Clinical Research, Endometriosis, Prevention, Pain Research, Chronic Pain, Infertility, 2.1 Biological and endogenous factors, Aetiology, Female, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study, Pain, Comorbidity, DBDS Genomic Consortium, FinnGen Study, FinnGen Endometriosis Taskforce, Celmatix Research Team, 23andMe Research Team, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.

Published
2023

5. Developmental language disorder – heritability and genetic correlations with other disorders affecting language

Author

Banasik, Karina, Bay, Jakob, Kjærgaard Boldsen, Jens, Brodersen, Thorsten, Brunak, Søren, Demur, Alfonso Buil, Nordahl Christoffersen, Lea Arregui, Didriksen, Maria, Dinh, Khoa Manh, Dowsett, Joseph, Erikstrup, Christian, Feenstra, Bjarke, Geller, Frank, Gudbjartsson, Daniel, Hansen, Thomas Folkmann, Mikkelsen, Dorte Helenius, Hindhede, Lotte, Hjalgrim, Henrik, von Stemann, Jakob Hjorth, Jensen, Bitten Aagaard, Schork, Andrew Joseph, Kaspersen, Kathrine, Kjerulff, Bertram Dalskov, Kongstad, Mette, Mikkelsen, Susan, Mikkelsen, Christina, Nissen, Janna, Nyegaard, Mette, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Elgaard Quinn, Liam James, Rafnar, Þórunn, Rohde, Palle Duun, Rostgaard, Klaus, Schwinn, Michael, Sørensen, Erik, Stefansson, Kari, Stefánsson, Hreinn, Thørner, Lise Wegner, Þorsteinsdóttir, Unnur, Bruun, Mie Topholm, Ullum, Henrik, Werge, Thomas, Westergaard, David, Nudel, Ron, Chrsitensen, Rikke Vang, Kalnak, Nelli, Lundberg, Mischa, Christoffersen, Lea Arregui Nordahl, Burgdorf, Kristoffer Sølvsten, Pedersen, Ole Birger Vesterager, Gísladóttir, Rósa S., and Walters, G. Bragi

Published
2024
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6. A saturated map of common genetic variants associated with human height

Author

Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U, Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D, Graham, Sarah E, Mukamel, Ronen E, Spracklen, Cassandra N, Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H, Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E, Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S, Akiyama, Masato, Allison, Matthew A, Alvarez, Marcus, Andersen, Mette K, Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F, Bollepalli, Sailalitha, Bonnycastle, Lori L, Bork-Jensen, Jette, Bradfield, Jonathan P, Bradford, Yuki, Braund, Peter S, Brody, Jennifer A, Burgdorf, Kristoffer S, Cade, Brian E, Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E Warwick, Degenhard, Frauke, Delgado, Graciela E, Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B, Engmann, Jorgen E, Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D, Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E, Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P, Goel, Anuj, Gordon, Scott D, Gorski, Mathias, Grove, Jakob, and Guo, Xiuqing

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Humans, Body Height, Gene Frequency, Genome, Human, Genome-Wide Association Study, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Europe, Sample Size, Phenotype, Chromosome Mapping, 23andMe Research Team, VA Million Veteran Program, DiscovEHR, eMERGE, Lifelines Cohort Study, PRACTICAL Consortium, Understanding Society Scientific Group, General Science & Technology
Abstract

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel2) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.

Published
2022

7. Impact of CCR5Δ32 on the risk of infection, Staphylococcus aureus carriage, and plasma concentrations of chemokines in Danish blood donors

Author

Dinh, Khoa Manh, Kaspersen, Kathrine Agergård, Mikkelsen, Susan, Kjerulff, Bertram Dalskov, Boldsen, Jens Kjærgaard, Petersen, Mikkel Steen, Burgdorf, Kristoffer Sølvsten, Sørensen, Erik, Aagaard, Bitten, Forman-Ankjær, Barbara, Bruun, Mie Topholm, Banasik, Karina, Hansen, Thomas Folkmann, Nyegaard, Mette, Rohde, Palle Duun, Brunak, Søren, Hjalgrim, Henrik, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Ullum, Henrik, Erikstrup, Lise Tornvig, and Erikstrup, Christian

Published
2024
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8. Symptoms of attention deficit hyperactivity disorder are associated with Hidradenitis suppurativa in Danish blood donors

Author

Lindsø Andersen, Pernille, Villumsen, Bente, Saunte, Ditte Marie Lindhardt, Burgdorf, Kristoffer Sølvsten, Didriksen, Maria, Ostrowski, Sisse Rye, Thørner, Lise Wegner, Erikstrup, Christian, Dinh, Khoa Manh, Nielsen, Kaspar René, Brodersen, Thorsten, Bruun, Mie Topholm, Banasik, Karina, Hansen, Thomas Folkmann, Pedersen, Ole Birger, and Jemec, Gregor Borut

Published
2023
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10. Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

Author

Hautakangas, Heidi, Winsvold, Bendik S., Ruotsalainen, Sanni E., Bjornsdottir, Gyda, Harder, Aster V. E., Kogelman, Lisette J. A., Thomas, Laurent F., Noordam, Raymond, Benner, Christian, Gormley, Padhraig, Artto, Ville, Banasik, Karina, Bjornsdottir, Anna, Boomsma, Dorret I., Brumpton, Ben M., Burgdorf, Kristoffer Sølvsten, Buring, Julie E., Chalmer, Mona Ameri, de Boer, Irene, Dichgans, Martin, Erikstrup, Christian, Färkkilä, Markus, Garbrielsen, Maiken Elvestad, Ghanbari, Mohsen, Hagen, Knut, Häppölä, Paavo, Hottenga, Jouke-Jan, Hrafnsdottir, Maria G., Hveem, Kristian, Johnsen, Marianne Bakke, Kähönen, Mika, Kristoffersen, Espen S., Kurth, Tobias, Lehtimäki, Terho, Lighart, Lannie, Magnusson, Sigurdur H., Malik, Rainer, Pedersen, Ole Birger, Pelzer, Nadine, Penninx, Brenda W. J. H., Ran, Caroline, Ridker, Paul M., Rosendaal, Frits R., Sigurdardottir, Gudrun R., Skogholt, Anne Heidi, Sveinsson, Olafur A., Thorgeirsson, Thorgeir E., Ullum, Henrik, Vijfhuizen, Lisanne S., Widén, Elisabeth, van Dijk, Ko Willems, Aromaa, Arpo, Belin, Andrea Carmine, Freilinger, Tobias, Ikram, M. Arfan, Järvelin, Marjo-Riitta, Raitakari, Olli T., Terwindt, Gisela M., Kallela, Mikko, Wessman, Maija, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Stefánsson, Hreinn, Stefansson, Kari, van den Maagdenberg, Arn M. J. M., Hansen, Thomas Folkmann, Ripatti, Samuli, Zwart, John-Anker, Palotie, Aarno, and Pirinen, Matti

Published
2022
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12. A genome-wide association study of social trust in 33,882 Danish blood donors

Author

Sequeros, Celia Burgos, Hansen, Thomas Folkmann, Westergaard, David, Louloudis, Ioannis, Kalamajski, Sebastian, Röder, Timo, Rohde, Palle Duun, Schwinn, Michael, Clemmensen, Line Harder, Didriksen, Maria, Nyegaard, Mette, Hjalgrim, Henrik, Nielsen, Kaspar René, Bruun, Mie Topholm, Ostrowski, Sisse Rye, Erikstrup, Christian, Mikkelsen, Susan, Sørensen, Erik, Banasik, Karina, Bay, Jakob, Boldsen, Jens Kjærgaard, Brodersen, Thorsten, Brunak, Søren, Burgdorf, Kristoffer, Chalmer, Mona Ameri, Dinh, Khoa Manh, Dowsett, Joseph, Feenstra, Bjarke, Geller, Frank, Gudbjartsson, Daniel, Hindhede, Lotte, Jacobsen, Rikke Louise, Jemec, Gregor, Jensen, Bitten Aagaard, Kaspersen, Katrine, Kjerulff, Bertram Dalskov, Kogelman, Lisette, Larsen, Margit Anita Hørup, Lundgaard, Agnete, Mikkelsen, Christina, Nissen, Ioanna, Pedersen, Ole Birger Vestager, Pil Henriksen, Alexander, Rostgaard, Klaus, Stefansson, Kari, Stefánsson, Hreinn, Thorsteinsdóttir, Unnur, Thørner, Lise Wegner, Topholm Bruun, Mie, Ullum, Henrik, Werge, Thomas, Giordano, Giuseppe Nicola, Sequeros, Celia Burgos, Hansen, Thomas Folkmann, Westergaard, David, Louloudis, Ioannis, Kalamajski, Sebastian, Röder, Timo, Rohde, Palle Duun, Schwinn, Michael, Clemmensen, Line Harder, Didriksen, Maria, Nyegaard, Mette, Hjalgrim, Henrik, Nielsen, Kaspar René, Bruun, Mie Topholm, Ostrowski, Sisse Rye, Erikstrup, Christian, Mikkelsen, Susan, Sørensen, Erik, Banasik, Karina, Bay, Jakob, Boldsen, Jens Kjærgaard, Brodersen, Thorsten, Brunak, Søren, Burgdorf, Kristoffer, Chalmer, Mona Ameri, Dinh, Khoa Manh, Dowsett, Joseph, Feenstra, Bjarke, Geller, Frank, Gudbjartsson, Daniel, Hindhede, Lotte, Jacobsen, Rikke Louise, Jemec, Gregor, Jensen, Bitten Aagaard, Kaspersen, Katrine, Kjerulff, Bertram Dalskov, Kogelman, Lisette, Larsen, Margit Anita Hørup, Lundgaard, Agnete, Mikkelsen, Christina, Nissen, Ioanna, Pedersen, Ole Birger Vestager, Pil Henriksen, Alexander, Rostgaard, Klaus, Stefansson, Kari, Stefánsson, Hreinn, Thorsteinsdóttir, Unnur, Thørner, Lise Wegner, Topholm Bruun, Mie, Ullum, Henrik, Werge, Thomas, and Giordano, Giuseppe Nicola

Abstract

Social trust is a heritable trait that has been linked with physical health and longevity. In this study, we performed genome-wide association studies of self-reported social trust in n = 33,882 Danish blood donors. We observed genome-wide and local evidence of genetic similarity with other brain-related phenotypes and estimated the single nucleotide polymorphism-based heritability of trust to be 6% (95% confidence interval = (2.1, 9.9)). In our discovery cohort (n = 25,819), we identified one significantly associated locus (lead variant: rs12776883) in an intronic enhancer region of PLPP4, a gene highly expressed in brain, kidneys, and testes. However, we could not replicate the signal in an independent set of donors who were phenotyped a year later (n = 8063). In the subsequent meta-analysis, we found a second significantly associated variant (rs71543507) in an intergenic enhancer region. Overall, our work confirms that social trust is heritable, and provides an initial look into the genetic factors that influence it.

Published
2024

13. Finding Ophthalmic Risk and Evaluating the Value of Eye exams and their predictive Reliability (FOREVER)—A cohort study in a Danish high street optician setting:Design and methodology

Author

Freiberg, Josefine, Rovelt, Jens, Gazzard, Gus, Cour, Morten la, Kolko, Miriam, Torp‐Pedersen, Christian, Benn, Marianne, Brunak, Søren, Tolstrup, Janne, Toft‐Petersen, Anne Pernille, Burgdorf, Kristoffer Sølvsten, Banasik, Karina, Chmura, Piotr Jaroslaw, Thornit, Dorte Nellemann, Foster, Paul, Crabb, David P., Viswanathan, Ananth, Barman, Sarah, Owen, Christopher G., Rudnicka, Alicja R., Freiberg, Josefine, Rovelt, Jens, Gazzard, Gus, Cour, Morten la, Kolko, Miriam, Torp‐Pedersen, Christian, Benn, Marianne, Brunak, Søren, Tolstrup, Janne, Toft‐Petersen, Anne Pernille, Burgdorf, Kristoffer Sølvsten, Banasik, Karina, Chmura, Piotr Jaroslaw, Thornit, Dorte Nellemann, Foster, Paul, Crabb, David P., Viswanathan, Ananth, Barman, Sarah, Owen, Christopher G., and Rudnicka, Alicja R.

Abstract

Purpose The purpose of the study was to describe the rationale and design of Project FOREVER (Finding Ophthalmic Risk and Evaluating the Value of Eye exams and their predictive Reliability). Design Project FOREVER will build a comprehensive database of clinical eye and vision data collected from ~280 000 adults at 100 optician stores across Denmark. The FOREVER database (FOREVERdb) includes detailed data from refraction, visual acuity, intraocular pressure, corneal thickness, visual field assessments and retinal fundus images. Linkage to the comprehensive Danish national registries with, that is diagnostic and prescribing data permits investigation of rare associations and risk factors. 30 000 individuals over 50 also provide a saliva sample for later genetic studies and blood pressure measurements. Of these 30 000, 10 000 will also get optical coherence tomography (OCT) nerve and retinal scans. This subpopulation data is reviewed by ophthalmologists for disease detection. All participants will be asked to complete a questionnaire assessing lifestyle, self-perceived eye health and general health. Enrolment of participants began in April 2022. Perspective The FOREVERdb is a powerful tool to answer a wide range of research questions that can pave the way for better eye health. This database will provide valuable insights for future studies investigating the correlations between eye and general health in a Danish population cohort, enabling research to identify potential risk factors for a range of diseases.

Published
2024

15. 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, Sorensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, and Stefansson, Kari

Published
2021
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16. Large-scale study of Toxoplasma and Cytomegalovirus shows an association between infection and serious psychiatric disorders

Author

Burgdorf, Kristoffer Sølvsten, Trabjerg, Betina B., Pedersen, Marianne Giørtz, Nissen, Janna, Banasik, Karina, Pedersen, Ole Birger, Sørensen, Erik, Nielsen, Kaspar René, Larsen, Margit Hørup, Erikstrup, Christian, Bruun-Rasmussen, Peter, Westergaard, David, Thørner, Lise Wegner, Hjalgrim, Henrik, Paarup, Helene Martina, Brunak, Søren, Pedersen, Carsten B., Torrey, E. Fuller, Werge, Thomas, Mortensen, Preben Bo, Yolken, Robert H., and Ullum, Henrik

Published
2019
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17. SMIM1 absence is associated with reduced energy expenditure and excess weight

Author

Banasik, Karina, Bay, Jakob, Boldsen, Jens Kjærgaard, Brodersen, Thorsten, Brunak, Søren, Burgdorf, Kristoffer, Chalmer, Mona Ameri, Didriksen, Maria, Dinh, Khoa Manh, Dowsett, Joseph, Erikstrup, Christian, Feenstra, Bjarke, Geller, Frank, Gudbjartsson, Daniel, Hansen, Thomas Folkmann, Hindhede, Lotte, Hjalgrim, Henrik, Jacobsen, Rikke Louise, Jemec, Gregor, Jensen, Bitten Aagaard, Kaspersen, Katrine, Kjerulff, Bertram Dalskov, Kogelman, Lisette, Hørup Larsen, Margit Anita, Louloudis, Ioannis, Lundgaard, Agnete, Susan, Mikkelsen, Christina, Nissen, Ioanna, Nyegaard, Mette, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Henriksen, Alexander Pil, Rohde, Palle Duun, Rostgaard, Klaus, Schwinn, Michael, Stefansson, Kari, Stefánsson, Hreinn, Sørensen, Erik, þorsteinsdóttir, Unnur, Thørner, Lise Wegner, Bruun, Mie Topholm, Ullum, Henrik, Werge, Thomas, Westergaard, David, Chen, Ji, Spracklen, Cassandra N., Marenne, Gaëlle, Varshney, Arushi, Corbin, Laura J., Luan, Jian’an, Willems, Sara M., Wu, Ying, Zhang, Xiaoshuai, Horikoshi, Momoko, Boutin, Thibaud S., Mägi, Reedik, Waage, Johannes, Li-Gao, Ruifang, Katie Chan, Kei Hang, Yao, Jie, Anasanti, Mila D., Chu, Audrey Y., Claringbould, Annique, Heikkinen, Jani, Hong, Jaeyoung, Hottenga, Jouke-Jan, Huo, Shaofeng, Kaakinen, Marika A., Louie, Tin, März, Winfried, Moreno-Macias, Hortensia, Ndungu, Anne, Nelson, Sarah C., Nolte, Ilja M., North, Kari E., Raulerson, Chelsea K., Ray, Debashree, Rohde, Rebecca, Rybin, Denis, Schurmann, Claudia, Sim, Xueling, Southam, Loz, Stewart, Isobel D., Wang, Carol A., Wang, Yujie, Wu, Peitao, Zhang, Weihua, Ahluwalia, Tarunveer S., Appel, Emil V.R., Bielak, Lawrence F., Brody, Jennifer A., Burtt, Noël P., Cabrera, Claudia P., Cade, Brian E., Chai, Jin Fang, Chai, Xiaoran, Chang, Li-Ching, Chen, Chien-Hsiun, Chen, Brian H., Chitrala, Kumaraswamy Naidu, Chiu, Yen-Feng, de Haan, Hugoline G., Delgado, Graciela E., Demirkan, Ayse, Duan, Qing, Engmann, Jorgen, Fatumo, Segun A., Gayán, Javier, Giulianini, Franco, Gong, Jung Ho, Gustafsson, Stefan, Hai, Yang, Hartwig, Fernando P., He, Jing, Heianza, Yoriko, Huang, Tao, Huerta-Chagoya, Alicia, Hwang, Mi Yeong, Jensen, Richard A., Kawaguchi, Takahisa, Kentistou, Katherine A., Kim, Young Jin, Kleber, Marcus E., Kooner, Ishminder K., Lai, Shuiqing, Lange, Leslie A., Langefeld, Carl D., Lauzon, Marie, Li, Man, Ligthart, Symen, Liu, Jun, Loh, Marie, Long, Jirong, Lyssenko, Valeriya, Mangino, Massimo, Marzi, Carola, Montasser, May E., Nag, Abhishek, Nakatochi, Masahiro, Noce, Damia, Noordam, Raymond, Pistis, Giorgio, Preuss, Michael, Raffield, Laura, Rasmussen-Torvik, Laura J., Rich, Stephen S., Robertson, Neil R., Rueedi, Rico, Ryan, Kathleen, Sanna, Serena, Saxena, Richa, Schraut, Katharina E., Sennblad, Bengt, Setoh, Kazuya, Smith, Albert V., Southam, Lorraine, Sparsø, Thomas, Strawbridge, Rona J., Takeuchi, Fumihiko, Tan, Jingyi, Trompet, Stella, van den Akker, Erik, van der Most, Peter J., Verweij, Niek, Vogel, Mandy, Wang, Heming, Wang, Chaolong, Wang, Nan, Warren, Helen R., Wen, Wanqing, Wilsgaard, Tom, Wong, Andrew, Wood, Andrew R., Xie, Tian, Zafarmand, Mohammad Hadi, Zhao, Jing-Hua, Zhao, Wei, Amin, Najaf, Arzumanyan, Zorayr, Astrup, Arne, Bakker, Stephan J.L., Baldassarre, Damiano, Beekman, Marian, Bergman, Richard N., Bertoni, Alain, Blüher, Matthias, Bonnycastle, Lori L., Bornstein, Stefan R., Bowden, Donald W., Cai, Qiuyin, Campbell, Archie, Campbell, Harry, Chang, Yi Cheng, de Geus, Eco J.C., Dehghan, Abbas, Du, Shufa, Eiriksdottir, Gudny, Farmaki, Aliki Eleni, Frånberg, Mattias, Fuchsberger, Christian, Gao, Yutang, Gjesing, Anette P., Goel, Anuj, Han, Sohee, Hartman, Catharina A., Herder, Christian, Hicks, Andrew A., Hsieh, Chang-Hsun, Hsueh, Willa A., Ichihara, Sahoko, Igase, Michiya, Ikram, M. Arfan, Johnson, W. Craig, Jørgensen, Marit E., Joshi, Peter K., Kalyani, Rita R., Kandeel, Fouad R., Katsuya, Tomohiro, Khor, Chiea Chuen, Kiess, Wieland, Kolcic, Ivana, Kuulasmaa, Teemu, Kuusisto, Johanna, Läll, Kristi, Lam, Kelvin, Lawlor, Deborah A., Lee, Nanette R., Lemaitre, Rozenn N., Li, Honglan, Lin, Shih-Yi, Lindström, Jaana, Linneberg, Allan, Liu, Jianjun, Lorenzo, Carlos, Matsubara, Tatsuaki, Matsuda, Fumihiko, Mingrone, Geltrude, Mooijaart, Simon, Moon, Sanghoon, Nabika, Toru, Nadkarni, Girish N., Nadler, Jerry L., Nelis, Mari, Neville, Matt J., Norris, Jill M., Ohyagi, Yasumasa, Peters, Annette, Peyser, Patricia A., Polasek, Ozren, Qi, Qibin, Raven, Dennis, Reilly, Dermot F., Reiner, Alex, Rivideneira, Fernando, Roll, Kathryn, Rudan, Igor, Sabanayagam, Charumathi, Sandow, Kevin, Sattar, Naveed, Schürmann, Annette, Shi, Jinxiu, Stringham, Heather M., Taylor, Kent D., Teslovich, Tanya M., Thuesen, Betina, Timmers, Paul R.H.J., Tremoli, Elena, Tsai, Michael Y., Uitterlinden, Andre, van Dam, Rob M., van Heemst, Diana, van Hylckama Vlieg, Astrid, Van Vliet-Ostaptchouk, Jana V., Vangipurapu, Jagadish, Vestergaard, Henrik, Wang, Tao, Willems van Dijk, Ko, Zemunik, Tatijana, Abecasis, Goncalo R., Adair, Linda S., Aguilar-Salinas, Carlos Alberto, Alarcón-Riquelme, Marta E., An, Ping, Aviles-Santa, Larissa, Becker, Diane M., Beilin, Lawrence J., Bergmann, Sven, Bisgaard, Hans, Black, Corri, Boehnke, Michael, Boerwinkle, Eric, Böhm, Bernhard O., Bønnelykke, Klaus, Boomsma, D.I., Bottinger, Erwin P., Buchanan, Thomas A., Canouil, Mickaël, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Ida Chen, Yii-Der, Cheng, Ching-Yu, Collins, Francis S., Correa, Adolfo, Cucca, Francesco, Janaka de Silva, H., Dedoussis, George, Elmståhl, Sölve, Evans, Michele K., Ferrannini, Ele, Ferrucci, Luigi, Florez, Jose C., Franks, Paul W., Frayling, Timothy M., Froguel, Philippe, Gigante, Bruna, Goodarzi, Mark O., Gordon-Larsen, Penny, Grallert, Harald, Grarup, Niels, Grimsgaard, Sameline, Groop, Leif, Gudnason, Vilmundur, Guo, Xiuqing, Hamsten, Anders, Hansen, Torben, Hayward, Caroline, Heckbert, Susan R., Horta, Bernardo L., Huang, Wei, Ingelsson, Erik, James, Pankow S., Jarvelin, Marjo-Ritta, Jonas, Jost B., Jukema, J. Wouter, Kaleebu, Pontiano, Kaplan, Robert, Kardia, Sharon L.R., Kato, Norihiro, Keinanen-Kiukaanniemi, Sirkka M., Kim, Bong-Jo, Kivimaki, Mika, Koistinen, Heikki A., Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Kuh, Diana, Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lakka, Timo A., Launer, Lenore J., Leander, Karin, Li, Huaixing, Lin, Xu, Lind, Lars, Lindgren, Cecilia, Liu, Simin, Loos, Ruth J.F., Magnusson, Patrik K.E., Mahajan, Anubha, Metspalu, Andres, Mook-Kanamori, Dennis O., Mori, Trevor A., Munroe, Patricia B., Njølstad, Inger, O'Connell, Jeffrey R., Oldehinkel, Albertine J., Ong, Ken K., Padmanabhan, Sandosh, Palmer, Colin N.A., Palmer, Nicholette D., Pedersen, Oluf, Pennell, Craig E., Porteous, David J., Pramstaller, Peter P., Province, Michael A., Psaty, Bruce M., Qi, Lu, Raffel, Leslie J., Rauramaa, Rainer, Redline, Susan, Ridker, Paul M., Rosendaal, Frits R., Saaristo, Timo E., Sandhu, Manjinder, Saramies, Jouko, Schneiderman, Neil, Schwarz, Peter, Scott, Laura J., Selvin, Elizabeth, Sever, Peter, Shu, Xiao-Ou, Slagboom, P. Eline, Small, Kerrin S., Smith, Blair H., Snieder, Harold, Sofer, Tamar, Sørensen, Thorkild I.A., Spector, Tim D., Stanton, Alice, Steves, Claire J., Stumvoll, Michael, Sun, Liang, Tabara, Yasuharu, Tai, E. Shyong, Timpson, Nicholas J., Tönjes, Anke, Tuomilehto, Jaakko, Tusie, Teresa, Uusitupa, Matti, van der Harst, Pim, van Duijn, Cornelia, Vitart, Veronique, Vollenweider, Peter, Vrijkotte, Tanja G.M., Wagenknecht, Lynne E., Walker, Mark, Wang, Ya X., Wareham, Nick J., Watanabe, Richard M., Watkins, Hugh, Wei, Wen B., Wickremasinghe, Ananda R., Willemsen, Gonneke, Wilson, James F., Wong, Tien-Yin, Wu, Jer-Yuarn, Xiang, Anny H., Yanek, Lisa R., Yengo, Loïc, Yokota, Mitsuhiro, Zeggini, Eleftheria, Zheng, Wei, Zonderman, Alan B., Rotter, Jerome I., Gloyn, Anna L., McCarthy, Mark I., Dupuis, Josée, Meigs, James B., Scott, Robert A., Prokopenko, Inga, Leong, Aaron, Liu, Ching-Ti, Parker, Stephen C.J., Mohlke, Karen L., Langenberg, Claudia, Wheeler, Eleanor, Morris, Andrew P., Barroso, Inês, Stefanucci, Luca, Moslemi, Camous, Tomé, Ana R., Virtue, Samuel, Bidault, Guillaume, Gleadall, Nicholas S., Watson, Laura P.E., Kwa, Jing E., Burden, Frances, Farrow, Samantha, Võsa, Urmo, Burling, Keith, Walker, Lindsay, Ord, John, Barker, Peter, Warner, James, Frary, Amy, Renhstrom, Karola, Ashford, Sofie E., Piper, Jo, Biggs, Gail, Erber, Wendy N., Hoffman, Gary J., Schoenmakers, Nadia, Rieneck, Klaus, Dziegiel, Morten H., Azzu, Vian, Vacca, Michele, Aparicio, Hugo Javier, Hui, Qin, Cho, Kelly, Sun, Yan V., Wilson, Peter W., Bayraktar, Omer A., Vidal-Puig, Antonio, Ostrowski, Sisse R., Astle, William J., Olsson, Martin L., Storry, Jill R., Pedersen, Ole B., Ouwehand, Willem H., Chatterjee, Krishna, Vuckovic, Dragana, and Frontini, Mattia

Published
2024
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18. Genetic Determinants of Weight Loss After Bariatric Surgery

Author

Aasbrenn, Martin, Schnurr, Theresia Maria, Have, Christian Theil, Svendstrup, Mathilde, Hansen, Dorte Lindqvist, Worm, Dorte, Balslev-Harder, Marie, Hollensted, Mette, Grarup, Niels, Burgdorf, Kristoffer Sølvsten, Vestergaard, Henrik, Pedersen, Oluf, Sørensen, Thorkild I. A., Fenger, Mogens, Madsbad, Sten, and Hansen, Torben

Published
2019
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21. Large genome-wide association study identifies three novel risk variants for restless legs syndrome

Author

Didriksen, Maria, Nawaz, Muhammad Sulaman, Dowsett, Joseph, Bell, Steven, Erikstrup, Christian, Pedersen, Ole B., Sørensen, Erik, Jennum, Poul J., Burgdorf, Kristoffer S., Burchell, Brendan, Butterworth, Adam S., Soranzo, Nicole, Rye, David B., Trotti, Lynn Marie, Saini, Prabhjyot, Stefansdottir, Lilja, Magnusson, Sigurdur H., Thorleifsson, Gudmar, Sigmundsson, Thordur, Sigurdsson, Albert P., Van Den Hurk, Katja, Quee, Franke, Tanck, Michael W. T., Ouwehand, Willem H., Roberts, David J., Earley, Eric J., Busch, Michael P., Mast, Alan E., Page, Grier P., Danesh, John, Di Angelantonio, Emanuele, Stefansson, Hreinn, Ullum, Henrik, and Stefansson, Kari

Published
2020
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22. Finding Ophthalmic Risk and Evaluating the Value of Eye exams and their predictive Reliability (FOREVER)—A cohort study in a Danish high street optician setting: Design and methodology.

Author

Freiberg, Josefine, Rovelt, Jens, Gazzard, Gus, la Cour, Morten, Kolko, Miriam, Torp‐Pedersen, Christian, Benn, Marianne, Brunak, Søren, Tolstrup, Janne, Toft‐Petersen, Anne Pernille, Burgdorf, Kristoffer Sølvsten, Banasik, Karina, Chmura, Piotr Jaroslaw, Thornit, Dorte Nellemann, Foster, Paul, Crabb, David P., Viswanathan, Ananth, Barman, Sarah, Owen, Christopher G., and Rudnicka, Alicja R.

Subjects
EYE examination, OPTICIANS, OPTICAL coherence tomography, DISEASE risk factors, VISUAL fields, DIABETIC retinopathy
Abstract

Purpose: The purpose of the study was to describe the rationale and design of Project FOREVER (Finding Ophthalmic Risk and Evaluating the Value of Eye exams and their predictive Reliability). Design: Project FOREVER will build a comprehensive database of clinical eye and vision data collected from ~280 000 adults at 100 optician stores across Denmark. The FOREVER database (FOREVERdb) includes detailed data from refraction, visual acuity, intraocular pressure, corneal thickness, visual field assessments and retinal fundus images. Linkage to the comprehensive Danish national registries with, that is diagnostic and prescribing data permits investigation of rare associations and risk factors. 30 000 individuals over 50 also provide a saliva sample for later genetic studies and blood pressure measurements. Of these 30 000, 10 000 will also get optical coherence tomography (OCT) nerve and retinal scans. This subpopulation data is reviewed by ophthalmologists for disease detection. All participants will be asked to complete a questionnaire assessing lifestyle, self‐perceived eye health and general health. Enrolment of participants began in April 2022. Perspective: The FOREVERdb is a powerful tool to answer a wide range of research questions that can pave the way for better eye health. This database will provide valuable insights for future studies investigating the correlations between eye and general health in a Danish population cohort, enabling research to identify potential risk factors for a range of diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Author

Bjornsdottir, Gyda, Chalmer, Mona A., Stefansdottir, Lilja, Skuladottir, Astros Th, Einarsson, Gudmundur, Andresdottir, Margret, Beyter, Doruk, Ferkingstad, Egil, Gretarsdottir, Solveig, Halldorsson, Bjarni V., Halldorsson, Gisli H., Helgadottir, Anna, Helgason, Hannes, Hjorleifsson Eldjarn, Grimur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Knowlton, Kirk U., Nadauld, Lincoln D., Lund, Sigrun H., Magnusson, Olafur Th, Melsted, Pall, Moore, Kristjan H.S., Oddsson, Asmundur, Olason, Pall I., Sigurdsson, Asgeir, Banasik, Karina, Brunak, Søren, Didriksen, Maria, Kogelman, Lisette J.A., Nielsen, Kaspar R., Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Bay, Jakob, Burgdorf, Kristoffer, Dowsett, Joseph, Hjalgrim, Henrik, Jacobsen, Rikke L., Louloudis, Ioannis, Lundgaard, Agnete, Mikkelsen, Christina, Nyegaard, Mette, Henriksen, Alexander P., Werge, Thomas, Westergaard, David, Olesen, Jes, Ostrowski, Sisse R., Hansen, Thomas F., Bjornsdottir, Gyda, Chalmer, Mona A., Stefansdottir, Lilja, Skuladottir, Astros Th, Einarsson, Gudmundur, Andresdottir, Margret, Beyter, Doruk, Ferkingstad, Egil, Gretarsdottir, Solveig, Halldorsson, Bjarni V., Halldorsson, Gisli H., Helgadottir, Anna, Helgason, Hannes, Hjorleifsson Eldjarn, Grimur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Knowlton, Kirk U., Nadauld, Lincoln D., Lund, Sigrun H., Magnusson, Olafur Th, Melsted, Pall, Moore, Kristjan H.S., Oddsson, Asmundur, Olason, Pall I., Sigurdsson, Asgeir, Banasik, Karina, Brunak, Søren, Didriksen, Maria, Kogelman, Lisette J.A., Nielsen, Kaspar R., Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Bay, Jakob, Burgdorf, Kristoffer, Dowsett, Joseph, Hjalgrim, Henrik, Jacobsen, Rikke L., Louloudis, Ioannis, Lundgaard, Agnete, Mikkelsen, Christina, Nyegaard, Mette, Henriksen, Alexander P., Werge, Thomas, Westergaard, David, Olesen, Jes, Ostrowski, Sisse R., and Hansen, Thomas F.

Abstract

Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.

Published
2023

24. 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., Nyegaard, Mette, Olesen, Jes, Hansen, Thomas Folkmann, 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., Nyegaard, Mette, Olesen, Jes, and Hansen, Thomas Folkmann

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 migr

Published
2023

25. Selvrapporterede ADHD symptomer hos ubehandlede, danske bloddonorer: Et spørgeskema- og registerbaseret tværsnitsstudie om indvirkningen af ADHD på socioøkonomiske faktorer, helbredsrelateret livskvalitet og forekomst af depression

Author

Ostrowski, Sisse Rye, Burgdorf, Kristoffer Sølvsten, Pedersen, Ole Birger Vesterager, Hald, Annemette, Ostrowski, Sisse Rye, Burgdorf, Kristoffer Sølvsten, Pedersen, Ole Birger Vesterager, and Hald, Annemette

Abstract

Introduktion ADHD blev tidligere betragtet som en lidelse primært forekommende hos børn, men har vist sig at vedvare livslangt; startende i barndommen og fortsættende op igennem voksenlivet indtil alderdommen. Imidlertid er ADHD dog underdiagnosticeret og -behandlet. Diagnosen kræver, at en person har væsentlige kernesymptomer relateret til uopmærksomhed, hyperaktivitet og/eller impulsivitet. ADHD er associeret med en række negative udfald inden for bl.a. socioøkonomiske områder (eks. civilstand, uddannelse, beskæftigelse og personlig indkomst) samt i relation til mentalt og fysisk helbred. Tidligere studier har vist, at personer med udiagnosticeret ADHD, påvirkes af lidelsen tilsvarende personer, der er klinisk diagnosticeret med ADHD. Masterprojektets formål er at karakterisere danske bloddonorer med selvrapporterede ADHDsymptomer, som ikke er i medicinsk behandling for ADHD – svarende til udiagnosticeret ADHD – i forhold til en række udfald såsom sociodemografiske og socioøkonomiske karakteristika (alder, køn, uddannelsesniveau, beskæftigelsesstatus, indkomst, antal børn) og sundhedstilstand/livsstilsadfærd (BMI, ryge- og alkoholvaner) samt afklare den potentielle indvirkning af udiagnosticeret ADHD på selvopfattet, helbredsrelateret livskvalitet og forekomst af depressive symptomer. Materiale og metode Det Danske Bloddonor Studie (DBDS) er en landsdækkende undersøgelse af donorsundhed og generiske sundhedsrelaterede forskningsspørgsmål, som danske bloddonorer inviteres til at deltage i. Masterprojektet baseres på allerede indsamlet data fra DBDS med et tværsnitsdesign. Data blev indsamlet fra maj 2015 til maj 2018 som en del af et elektronisk forskningsspørgeskema (DBDS2), der indbefattede validerede skalaer til selvrapporteret helbred: Adult ADHD Self-Report Scale (ASRS), 12-Item Short Form Health Survey (SF-12) og Major Depression Inventory Scale (MDI). Spørgeskemaoplysningerne blev koblet med sociodemografiske og socioøkonomiske oplysninge, Introduction Attention Deficit/Hyperactivity Disorder (ADHD) was historically thought of as a childhood disorder but today it is viewed as a disorder with a lifespan perspective: starting in childhood and persisting in adulthood until old age. However, ADHD is still currently widely underdiagnosed and undertreated. The diagnosis requires that an individual meets distinct deficits in core symptoms of inattention, hyperactivity, and impulsivity. Although all symptoms of ADHD can persist, they may change with age. Furthermore, many severe adverse outcomes have been associated with ADHD leading to impairment in areas within socio-economic perspectives (i.e. marital status, education, employment status, and personal income), and mental and physical health domains. Importantly, studies have shown individuals with undiagnosed ADHD suffer from the disorder in ways consistent with the current understanding of the burden of ADHD among clinically diagnosed. The objective of this master’s thesis is to characterize Danish ADHD treatment-naïve blood donors presenting self-reported ADHD symptoms (equivalent to undiagnosed ADHD) in terms of socio-demographic and socio-economic characteristics (age, sex, educational level, job status, income, number of children), and health/lifestyle behavior (BMI, smoking and alcohol habits). Further, to clarify and reveal the potential impact of undiagnosed ADHD on the selfperceived health-related quality of life and experience of depressive symptoms (present and past). Material and methods In Denmark, blood donors are invited to participate in the Danish Blood Donor Study (DBDS), a nationwide study of donor health and generic health-related research questions. This master’s thesis was based on data previously collected in DBDS. Here, a cross-sectional design was applied by using self-reported data collected from May 2015 to May 2018 as part of the second tablet-based health-related research questionnaire (DBDS2). The questionnaire

Published
2023

27. Obesity and Risk of Infection : Results from the Danish Blood Donor Study

Author

Kaspersen, Kathrine Agergård, Pedersen, Ole Birger, Petersen, Mikkel Steen, Hjalgrim, Henrik, Rostgaard, Klaus, Møller, Bjarne Kuno, Juul-Sørensen, Cecilie, Kotzé, Sebastian, Dinh, Khoa Manh, Erikstrup, Lise Tornvig, Sørensen, Erik, Thørner, Lise Wegner, Burgdorf, Kristoffer Sølvsten, Ullum, Henrik, and Erikstrup, Christian

Published
2015

28. Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Author

Bjornsdottir, Gyda, Stefánsdóttir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkársdóttir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Andersen, Steffen, Brunak, Søren, Burgdorf, Kristoffer, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Per Ingemar, Nielsen, Kasper Rene, Nyegaard, Mette, Bruun, Mie Topholm, Pedersen, Ole Birger, Dinh, Khoa Manh, Sørensen, Erik, Ostrowski, Sisse R., Johansson, Pär Ingemar, Gudbjartsson, Daniel F., Stefansson, Hreinn, Þorsteinsdóttir, Unnur, Larsen, Margit Anita Hørup, Didriksen, Maria, Sækmose, Susanne, Zeggini, Eleftheria, Hatzikotoulas, Konstantinos, Southam, Lorraine, Gilly, Arthur, Barysenka, Andrei, van Meurs, Joyce B. J., Boer, Cindy G., Uitterlinden, André G., Jonsson, Helgi, Ingvarsson, Thorvaldur, Esko, Tõnu, Mägi, Reedik, Teder-Laving, Maris, Ikegawa, Shiro, Terao, Chikashi, Takuwa, Hiroshi, Meulenbelt, Ingrid, Coutinho de Almeida, Rodrigo, Kloppenburg, Margreet, Tuerlings, Margo, Slagboom, P. Eline, Nelissen, Rob R. G. H. H., Valdes, Ana M., Mangino, Massimo, Tsezou, Aspasia, Zengini, Eleni, Alexiadis, George, Babis, George C., Cheah, Kathryn S. E., Wu, Tian T., Samartzis, Dino, Cheung, Jason Pui Yin, Sham, Pak Chung, Kraft, Peter, Kang, Jae Hee, Hveem, Kristian, Zwart, John-Anker, Luetge, Almut, Skogholt, Anne Heidi, Johnsen, Marianne B., Thomas, Laurent F., Winsvold, Bendik, Gabrielsen, Maiken E., Lee, Ming Ta Michael, Zhang, Yanfei, Lietman, Steven A., Shivakumar, Manu, Smith, George Davey, Tobias, Jonathan H., Hartley, April, Gaunt, Tom R., Zheng, Jie, Wilkinson, J. Mark, Steinberg, Julia, Morris, Andrew P., Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ullum, Henrik, Thorsteinsdottir, Unnur, Thorgeirsson, Thorgeir E., Stefansson, Kari, Consortium, DBDS Genetic, Consortium, GO, and Internal Medicine

Subjects
Science, General Physics and Astronomy, Intervertebral Disc Degeneration, Intervertebral Disc/metabolism, Bone and Bones/metabolism, Bone and Bones, General Biochemistry, Genetics and Molecular Biology, health services administration, Humans, Sodium Sulfate Cotransporter/genetics, Intervertebral Disc, 3' Untranslated Regions, health care economics and organizations, Sodium Sulfate Cotransporter, Symporters/genetics, Multidisciplinary, Symporters, Sulfates, General Chemistry, equipment and supplies, Intervertebral Disc Degeneration/genetics, Intervertebral Disc Displacement/genetics, Sulfates/metabolism, population characteristics, human activities, Intervertebral Disc Displacement, Genome-Wide Association Study
Abstract

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes.

Published
2022
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29. Comorbidity of migraine with ADHD in adults

Author

Hansen, Thomas Folkmann, Hoeffding, Louise K., Kogelman, Lisette, Haspang, Thilde Marie, Ullum, Henrik, Sørensen, Erik, Erikstrup, Christian, Pedersen, Ole Birger, Nielsen, Kaspar René, Hjalgrim, Henrik, Paarup, Helene M., Werge, Thomas, and Burgdorf, Kristoffer

Published
2018
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31. The Social and Psychological Impact of Acne Treatment: A Cross-Sectional Study of Blood Donors

Author

Andersen, Rune Kjærsgaard, primary, Bouazzi, Dorra, additional, Erikstrup, Christian, additional, Nielsen, Kaspar René, additional, Burgdorf, Kristoffer Sølvsten, additional, Bruun, Mie Topholm, additional, Hjalgrim, Henrik, additional, Mikkelsen, Susan, additional, Ullum, Henrik, additional, Pedersen, Ole Birger, additional, and Ernst Jemec, Gregor Borut, additional

Published
2022
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32. The Social and Psychological Impact of Acne Treatment:A Cross-Sectional Study of Blood Donors

Author

Andersen, Rune Kjærsgaard, Bouazzi, Dorra, Erikstrup, Christian, Nielsen, Kaspar René, Burgdorf, Kristoffer Sølvsten, Bruun, Mie Topholm, Hjalgrim, Henrik, Mikkelsen, Susan, Ullum, Henrik, Pedersen, Ole Birger, Ernst Jemec, Gregor Borut, Andersen, Rune Kjærsgaard, Bouazzi, Dorra, Erikstrup, Christian, Nielsen, Kaspar René, Burgdorf, Kristoffer Sølvsten, Bruun, Mie Topholm, Hjalgrim, Henrik, Mikkelsen, Susan, Ullum, Henrik, Pedersen, Ole Birger, and Ernst Jemec, Gregor Borut

Abstract

BACKGROUND: Acne in adolescence and adulthood is believed to have a long-term impact on socioeconomic status (SES) and health-related quality-of-life (HRQoL) in adults.OBJECTIVE: To estimate the cross-sectional prevalence of medically treated (MedTreAc) and untreated acne (UnTreAc) and to characterize its long-term impact in adults.METHODS: A nationwide cross-sectional study on 17 428 blood donors aged 18-35 was performed. Associations among acne and HRQoL, depressive symptoms, total income, and SES were investigated via linear/logistic/multinomial logistic regression analyses adjusted for relevant covariables. HRQoL was measured by the Short Form-12, and depressive symptoms by the Major Depression Inventory. The data were self-reported.RESULTS: Of the participants, 3591 (20.6%) and 1354 (7.8%) identified as the MedTreAc and UnTreAc phenotype, respectively. Neither phenotype was associated with a long-term impact on total income, but the MedTreAc group was associated with being an apprentice/student (OR = 1.26; 95% CI: 1.12, 1.42; P = 1.3×10-4) or high skill-level employee (OR = 1.22, 95% CI: 1.07; 1.39, P = .0023), while self-employment was more common for those with UnTreAc (OR = 1.53; 95% CI: 1.12, 2.06, P = .0061). Additionally, the UnTreAc group was associated with a lower mental HRQoL (SF-12 mental component summary score -1.05, 95% CI: -1.56, -0.54; P = 1.4×10-9) and increased odds ratio of depressive symptoms (OR = 1.44; 95% CI: 1.00, 2.02, P = .046).CONCLUSION: In this population of blood donors, the cumulative prevalence of MedTreAc and UnTreAc were 20.6% and 7.8%, respectively. Untreated acne had a long-term impact on psychosocial well-being in adulthood. It was associated with lower mental HRQoL and higher occurrence of depressive symptoms. Acne was not associated with a lower salary or SES.

Published
2022

33. 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

35. 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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36. 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, Andersen, Steffen, Burgdorf, Kristoffer, Didriksen, Maria, Dinh, Khoa Manh, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Pär Ingemar, Larsen, Margit Anita Hørup, Mikkelsen, Susan, Nielsen, Kasper Rene, Nyegaard, Mette, Stefánsson, Hreinn, Sækmose, Susanne, Sørensen, Erik, Thorsteinsdottir, Unnur, Bruun, Mie Topholm, Ullum, Henrik, Werge, Thomas, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, and Stefansson, Kari

Subjects
Multidisciplinary, Phenotype, Anthropometry, Genetic Loci, General Physics and Astronomy, Carpal Tunnel Syndrome/genetics, Humans, General Chemistry, Carpal Tunnel Syndrome, General Biochemistry, Genetics and Molecular Biology, Genome-Wide Association Study, nervous system diseases
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
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37. Table S1 - Supplemental material for The Social and Psychological Impact of Acne Treatment: A Cross-Sectional Study of Blood Donors

Author

Andersen, Rune Kjærsgaard, Bouazzi, Dorra, Erikstrup, Christian, Nielsen, Kaspar René, Burgdorf, Kristoffer Sølvsten, Bruun, Mie Topholm, Hjalgrim, Henrik, Mikkelsen, Susan, Ullum, Henrik, Pedersen, Ole Birger, and Ernst Jemec, Gregor Borut

Subjects
Medicine
Abstract

Supplemental material, Table S1, for The Social and Psychological Impact of Acne Treatment: A Cross-Sectional Study of Blood Donors by Rune Kjærsgaard Andersen, Dorra Bouazzi, Christian Erikstrup, Kaspar René Nielsen, Kristoffer Sølvsten Burgdorf, Mie Topholm Bruun, Henrik Hjalgrim, Susan Mikkelsen, Henrik Ullum, Ole Birger Pedersen and Gregor Borut Ernst Jemec in Journal of Cutaneous Medicine and Surgery

Published
2022
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39. 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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40. 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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43. Richness of human gut microbiome correlates with metabolic markers

Author

Le Chatelier, Emmanuelle, Nielsen, Trine, Qin, Junjie, Prifti, Edi, Hildebrand, Falk, Falony, Gwen, Almeida, Mathieu, Arumugam, Manimozhiyan, Batto, Jean-Michel, Kennedy, Sean, Leonard, Pierre, Li, Junhua, Burgdorf, Kristoffer, Grarup, Niels, Jørgensen, Torben, Brandslund, Ivan, Nielsen, Henrik Bjørn, Juncker, Agnieszka S., Bertalan, Marcelo, Levenez, Florence, Pons, Nicolas, Rasmussen, Simon, Sunagawa, Shinichi, Tap, Julien, Tims, Sebastian, Zoetendal, Erwin G., Brunak, Søren, Clément, Karine, Doré, Joël, Kleerebezem, Michiel, Kristiansen, Karsten, Renault, Pierre, Sicheritz-Ponten, Thomas, de Vos, Willem M., Zucker, Jean-Daniel, Raes, Jeroen, Hansen, Torben, Bork, Peer, Wang, Jun, Ehrlich, S. Dusko, and Pedersen, Oluf

Published
2013
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44. The association between water hardness and xerosis-results from the danish blood donor study

Author

Henning, Mattias A.S., Ibler, Kristina S., Ullum, Henrik, Erikstrup, Christian, Bruun, Mie T., Burgdorf, Kristoffer S., Dinh, Khoa M., Rigas, Andreas, Thørner, Lise W., Pedersen, Ole B., Jemec, Gregor B., Henning, Mattias A.S., Ibler, Kristina S., Ullum, Henrik, Erikstrup, Christian, Bruun, Mie T., Burgdorf, Kristoffer S., Dinh, Khoa M., Rigas, Andreas, Thørner, Lise W., Pedersen, Ole B., and Jemec, Gregor B.

Abstract

Background: The pathophysiology of xerosis depends on extrinsic and intrinsic exposures. Residential hard water may constitute such an exposure. Objectives: To estimate the prevalence of xerosis and to compare water hardness exposure in blood donors with and without xerosis. Methods: In this retrospective cohort study in 2018-2019, blood donors with self-reported moderately or severely dry skin were compared to blood donors without dry skin. Blood donors with ichthyosis, lichen planus and psoriasis were excluded. Water hardness data was collected from the Geology Survey of Denmark and Greenland. Results: Overall, 4,748 of 30,721 (15.5%; 95% confidence interval 15.1-15.9%) blood donors had xerosis. After excluding blood donors with ichthyosis, lichen planus and psoriasis, 4,416 blood donors (2,559 females; median age 38.4 years [interquartile range 28.0-49.8]; 700 smokers) remained in this study. Water softer than 12-24 degrees Deutsche härte was associated with decreased probability of xerosis (odds ratio 0.83; 95% confidence interval 0.74-0.94) and water harder than 12-24 degrees Deutsche härte was associated with increased probability of xerosis (odds ratio 1.22; 95% confidence interval 1.03-1.45). The association between water hardness and xerosis remained significant after excluding blood donors with dermatitis. Conclusions: Water hardness is associated with xerosis independent of other dermatoses.

Published
2021

45. Genetic markers of abdominal obesity and weight loss after gastric bypass surgery

Author

Aasbrenn, Martin, Svendstrup, Mathilde, Schnurr, Theresia M., Hansen, Dorte Lindqvist, Worm, Dorte, Balslev-Harder, Marie, Grarup, Niels, Burgdorf, Kristoffer Sølvsten, Vestergaard, Henrik, Pedersen, Oluf, Angquist, Lars, Fenger, Mogens, Sørensen, Thorkild I. A., Madsbad, Sten, Hansen, Torben, Aasbrenn, Martin, Svendstrup, Mathilde, Schnurr, Theresia M., Hansen, Dorte Lindqvist, Worm, Dorte, Balslev-Harder, Marie, Grarup, Niels, Burgdorf, Kristoffer Sølvsten, Vestergaard, Henrik, Pedersen, Oluf, Angquist, Lars, Fenger, Mogens, Sørensen, Thorkild I. A., Madsbad, Sten, and Hansen, Torben

Abstract

Background Weight loss after bariatric surgery varies widely between individuals, partly due to genetic differences. In addition, genetic determinants of abdominal obesity have been shown to attenuate weight loss after dietary intervention with special attention paid to the rs1358980-T risk allele in the VEGFA locus. Here we aimed to test if updated genetic risk scores (GRSs) for adiposity measures and the rs1358980-T risk allele are linked with weight loss following gastric bypass surgery.Methods Five hundred seventy six patients with morbid obesity underwent Roux-en-Y gastric bypass. A GRS for BMI and a GRS for waist-hip-ratio adjusted for BMI (proxy for abdominal obesity), respectively, were constructed. All patients were genotyped for the rs1358980-T risk allele. Associations between the genetic determinants and weight loss after bariatric surgery were evaluated.Results The GRS for BMI was not associated with weight loss (beta = -2.0 kg/100 risk alleles, 95% CI -7.5 to 3.3, p = 0.45). Even though the GRS for abdominal obesity was associated with an attenuated weight loss response adjusted for age, sex and center (beta = -14.6 kg/100 risk alleles, 95% CI -25.4 to -3.8, p = 0.008), it was not significantly associated with weight loss after adjustment for baseline BMI (beta = -7.9 kg/100 risk alleles, 95% CI -17.5 to 1.6, p = 0.11). Similarly, the rs1358980-T risk allele was not significantly associated with weight loss (beta = -0.8 kg/risk allele, 95% CI -2.2 to 0.6, p = 0.25).Discussion GRSs for adiposity derived from large meta-analyses and the rs1358980-T risk allele in the VEGFA locus did not predict weight loss after gastric bypass surgery. The association between a GRS for abdominal obesity and the response to bariatric surgery may be dependent on the association between the GRS and baseline BMI.

Published
2021

46. 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

47. Epidemiology of Hyperhidrosis in Danish Blood Donors

Author

Henning, Mattias A. S., Ibler, Kristina S., Loft, Isabella, Ullum, Henrik, Erikstrup, Christian, Nielsen, Kaspar R., Bruun, Mie Topholm, Hjalgrim, Henrik, Sorensen, Erik, Burgdorf, Kristoffer S., Mikkelsen, Susan, Hansen, Thomas F., Pedersen, Ole B., Jemec, Gregor B., Henning, Mattias A. S., Ibler, Kristina S., Loft, Isabella, Ullum, Henrik, Erikstrup, Christian, Nielsen, Kaspar R., Bruun, Mie Topholm, Hjalgrim, Henrik, Sorensen, Erik, Burgdorf, Kristoffer S., Mikkelsen, Susan, Hansen, Thomas F., Pedersen, Ole B., and Jemec, Gregor B.

Abstract

The risk factors and disease implications of hyperhidrosis are unknown. The objectives of this retrospective cohort study were to estimate the prevalence of hyperhidrosis and to compare demographic, life-style, and socioeconomic parameters in blood donors with and without self-reported or hospital-diagnosed hyperhidrosis. The study included blood donors from the Danish Blood Donor Study for the period 2010-2019. Registry data were collected from Statistics Denmark. Overall, 2,794 of 30,808 blood donors (9.07%; 95% confidence interval (95% CI) 8.75-9.40) had self-reported hyperhidrosis and 284 of 122,225 (0.23%; 95% CI 0.21-0.26) had hospital-diagnosed hyperhidrosis. Self-reported hyperhidrosis was associated with smoking (odds ratio (OR) 1.17; 95% CI 1.05-1.31), overweight (OR 1.72; 95% CI 1.58-1.87), "unemployed" (OR 1.60; 95% CI 1.24-2.08), "short education" (OR 0.76; 95% CI 0.64-0.90), and lower income (beta-coefficient -26,121; 95% CI -37,931, -14,311). Hospital-diagnosed hyperhidrosis did not differ from controls. Thus, self-reported hyperhidrosis was associated with potential hyperhidrosis risk factors (smoking, overweight) and disease implications (unemployment, low education level and income).

Published
2021

48. Association of proton pump inhibitor and histamine H2-receptor antagonists with restless legs syndrome

Author

Earley, Eric J., Didriksen, Maria, Spencer, Bryan R., Kiss, Joseph E., Erikstrup, Christian, Pedersen, Ole B., Sørensen, Erik, Burgdorf, Kristoffer S., Kleinman, Steven H., Mast, Alan E., Busch, Michael P., Ullum, Henrik, Page, Grier P., Earley, Eric J., Didriksen, Maria, Spencer, Bryan R., Kiss, Joseph E., Erikstrup, Christian, Pedersen, Ole B., Sørensen, Erik, Burgdorf, Kristoffer S., Kleinman, Steven H., Mast, Alan E., Busch, Michael P., Ullum, Henrik, and Page, Grier P.

Abstract

Restless legs syndrome (RLS) is a common sensorimotor disorder, which can disrupt sleep and is thought to be caused in part by low cellular iron stores. Proton pump inhibitors (PPI) and histamine H2-receptor antagonists (H2A) are among the most commonly used drugs worldwide and show evidence of causing iron deficiency. We conducted a case/non-case observational study of blood donors in the United States (N = 13,403; REDS-III) and Denmark (N = 50,323; Danish Blood Donor Study, DBDS), both of which had complete blood count measures and a completed RLS assessment via the Cambridge-Hopkins RLS questionnaire. After adjusting for age, sex, race, BMI, blood donation frequency, smoking, hormone use, and iron supplement use, PPI/H2A use was associated with RLS (odds ratio [OR] = 1.41; 95% confidence interval [CI], 1.13-1.76; p = 0.002) in REDS-III for both PPI (OR = 1.43; CI, 1.03-1.95; p = 0.03) and H2A (OR = 1.56; CI, 1.10-2.16; p = 0.01). DBDS exhibited a similar association with PPIs/H2As (OR = 1.29; CI, 1.20-1.40; p < 0.001), and for PPIs alone (OR = 1.27; CI, 1.17-1.38; p < 0.001), but not H2As alone (OR = 1.18; CI, 0.92-1.53; p = 0.2). We found no evidence of blood iron stores mediating this association. The association of PPI, and possibly H2A, consumption with RLS independent of blood iron status and other factors which contribute to RLS risk suggest the need to re-evaluate use of PPI/H2A in populations at particular risk for RLS.

Published
2021

49. 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

50. 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

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