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1. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

Author

Kristjansson, Ragnar P., Oskarsson, Gudjon R., Skuladottir, Astros, Oddsson, Asmundur, Rognvaldsson, Solvi, Sveinbjornsson, Gardar, Lund, Sigrun H., Jensson, Brynjar O., Styrmisdottir, Edda L., Halldorsson, Gisli H., Ferkingstad, Egil, Eldjarn, Grimur Hjorleifsson, Beyter, Doruk, Kristmundsdottir, Snædis, Juliusson, Kristinn, Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Snorradottir, Margret H., Tragante, Vinicius, Stefansdottir, Lilja, Ivarsdottir, Erna V., Bjornsdottir, Gyda, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Ludviksson, Bjorn R., Onundarson, Pall T., Saevarsdottir, Saedis, Melsted, Pall, Norddahl, Gudmundur L., Bjornsdottir, Unnur S., Olafsdottir, Thorunn, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2023
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2. A partial loss-of-function variant in STAT6 protects against type 2 asthma

Author

Kristjansdottir, Katla, Norddahl, Gudmundur L., Ivarsdottir, Erna V., Halldorsson, Gisli H., Einarsson, Gudmundur, Bjarnadottir, Kristbjorg, Rutsdottir, Gudrun, Arnthorsson, Asgeir O., Erikstrup, Christian, Gudmundsdottir, Steinunn, Gunnarsdottir, Kristbjorg, Gunnbjornsdottir, Maria I., Halldorsson, Bjarni V., Holm, Hilma, Ludviksdottir, Dora, Ludviksson, Bjorn R., Brunak, Søren, Bruun, Mie Topholm, Mikkelsen, Christina, Mikkelsen, Susan, Jensen, Bitten Aagaard, Sørensen, Erik, Thomsen, Simon Francis, Ullum, Henrik, Olafsson, Isleifur, Onundarson, Pall T., Ostrowski, Sisse Rye, Saevarsdottir, Saedis, Sigurdardottir, Olof, Sigurgeirsson, Bardur, Snaebjarnarson, Audunn S., Sveinbjornsson, Gardar, Thorlacius, Gudny E., Thorleifsson, Gudmar, Tragante, Vinicius, Vidarsson, Brynjar, Porsbjerg, Celeste, Bjornsdottir, Unnur S., Sulem, Patrick, Gudbjartsson, Daniel F., Melsted, Pall, Pedersen, Ole Bv., Jonsdottir, Ingileif, Olafsdottir, Thorunn A., and Stefansson, Kari

Published
2024
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3. Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

Author

Ghouse, Jonas, Tragante, Vinicius, Ahlberg, Gustav, Rand, Søren A., Jespersen, Jakob B., Leinøe, Eva Birgitte, Vissing, Christoffer Rasmus, Trudsø, Linea, Jonsdottir, Ingileif, Banasik, Karina, Brunak, Søren, Ostrowski, Sisse R., Pedersen, Ole B., Sørensen, Erik, Erikstrup, Christian, Bruun, Mie Topholm, Nielsen, Kaspar Rene, Køber, Lars, Christensen, Alex H., Iversen, Kasper, Jones, David, Knowlton, Kirk U., Nadauld, Lincoln, Halldorsson, Gisli H., Ferkingstad, Egil, Olafsson, Isleifur, Gretarsdottir, Solveig, Onundarson, Pall T., Sulem, Patrick, Thorsteinsdottir, Unnur, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Stefansson, Kari, Holm, Hilma, Olesen, Morten Salling, and Bundgaard, Henning

Published
2023
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6. Genetic architecture of band neutrophil fraction in Iceland

Author

Oskarsson, Gudjon R., Magnusson, Magnus K., Oddsson, Asmundur, Jensson, Brynjar O., Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Rognvaldsson, Solvi, Halldorsson, Gisli H., Sveinbjornsson, Gardar, Ivarsdottir, Erna V., Stefansdottir, Lilja, Ferkingstad, Egil, Norland, Kristjan, Tragante, Vinicius, Saemundsdottir, Jona, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurjonsdottir, Svanhvit, Petursdottir, Karen O., Davidsson, Olafur B., Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Vidarsson, Brynjar, Sigurdardottir, Olof, Masson, Gisli, Gudbjartsson, Daniel F., Jonsdottir, Ingileif, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2022
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8. Genetic variants associated with platelet count are predictive of human disease and physiological markers

Author

Mikaelsdottir, Evgenia, Thorleifsson, Gudmar, Stefansdottir, Lilja, Halldorsson, Gisli, Sigurdsson, Jon K., Lund, Sigrun H., Tragante, Vinicius, Melsted, Pall, Rognvaldsson, Solvi, Norland, Kristjan, Helgadottir, Anna, Magnusson, Magnus K., Ragnarsson, Gunnar B., Kristinsson, Sigurdur Y., Reykdal, Sigrun, Vidarsson, Brynjar, Gudmundsdottir, Ingibjorg J., Olafsson, Isleifur, Onundarson, Pall T., Sigurdardottir, Olof, Sigurdsson, Emil L., Grondal, Gerdur, Geirsson, Arni J., Geirsson, Gudmundur, Gudmundsson, Julius, Holm, Hilma, Saevarsdottir, Saedis, Jonsdottir, Ingileif, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Rafnar, Thorunn, and Stefansson, Kari

Published
2021
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9. FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

Author

Saevarsdottir, Saedis, Olafsdottir, Thorunn A., Ivarsdottir, Erna V., Halldorsson, Gisli H., Gunnarsdottir, Kristbjorg, Sigurdsson, Asgeir, Johannesson, Ari, Sigurdsson, Jon K., Juliusdottir, Thorhildur, Lund, Sigrun H., Arnthorsson, Asgeir O., Styrmisdottir, Edda L., Gudmundsson, Julius, Grondal, Gerdur M., Steinsson, Kristjan, Alfredsson, Lars, Askling, Johan, Benediktsson, Rafn, Bjarnason, Ragnar, Geirsson, Arni J., Gudbjornsson, Bjorn, Gudjonsson, Hallgrimur, Hjaltason, Haukur, Hreidarsson, Astradur B., Klareskog, Lars, Kockum, Ingrid, Kristjansdottir, Helga, Love, Thorvardur J., Ludviksson, Bjorn R., Olsson, Tomas, Onundarson, Pall T., Orvar, Kjartan B., Padyukov, Leonid, Sigurgeirsson, Bardur, Tragante, Vinicius, Bjarnadottir, Kristbjorg, Rafnar, Thorunn, Masson, Gisli, Sulem, Patrick, Gudbjartsson, Daniel F., Melsted, Pall, Thorleifsson, Gudmar, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari

Published
2020
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11. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2019
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12. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Oskarsson, Gudjon R., Oddsson, Asmundur, Magnusson, Magnus K., Kristjansson, Ragnar P., Halldorsson, Gisli H., Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V., Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M., Lee, Amy L., Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K., Davidsson, Olafur B., Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020
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13. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Author

Olafsdottir, Thorunn A., Theodors, Fannar, Bjarnadottir, Kristbjorg, Bjornsdottir, Unnur Steina, Agustsdottir, Arna B., Stefansson, Olafur A., Ivarsdottir, Erna V., Sigurdsson, Jon K., Benonisdottir, Stefania, Eyjolfsson, Gudmundur I., Gislason, David, Gislason, Thorarinn, Guðmundsdóttir, Steinunn, Gylfason, Arnaldur, Halldorsson, Bjarni V., Halldorsson, Gisli H., Juliusdottir, Thorhildur, Kristinsdottir, Anna M., Ludviksdottir, Dora, Ludviksson, Bjorn R., Masson, Gisli, Norland, Kristjan, Onundarson, Pall T., Olafsson, Isleifur, Sigurdardottir, Olof, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, and Stefansson, Kari

Published
2020
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16. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Author

Oskarsson, Gudjon R., Kristjansson, Ragnar P., Lee, Amy L., Sveinbjornsson, Gardar, Magnusson, Magnus K., Ivarsdottir, Erna V., Benonisdottir, Stefania, Oddsson, Asmundur, Davidsson, Olafur B., Saemundsdottir, Jona, Halldorsson, Gisli H., Arthur, Joseph, Arnadottir, Gudny A., Masson, Gisli, Jensson, Brynjar O., Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2018
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17. Platelet function testing: Current practice among clinical centres in Northern Europe

Author

Szanto, Timea, Zetterberg, Eva, Ramström, Sofia, Leinøe, Eva B., Holme, Pål A., Antovic, Jovan P., Holmström, Margareta, Onundarson, Pall T., Pikta, Marika, Vaide, Ines, Olsson, Anna, Magnusson, Maria, Kärkkäinen, Satu, Bitar, Manar, Poulsen, Lone Hvitfeldt, Lassila, Riitta, the Nordic Haemophilia Council, Clinicum, University of Helsinki, HUS Comprehensive Cancer Center, Hematologian yksikkö, Research Program in Systems Oncology, Department of Oncology, Tampere University, and Department of Clinical Chemistry

Subjects
Blood Platelets, data collection, Platelet Function Tests, DISORDERS, SUBCOMMITTEE, BLEEDING ASSESSMENT-TOOL, Hemorrhage, COMMUNICATION, 3121 Internal medicine, DIAGNOSIS, AGGREGOMETRY, blood platelet disorders, platelet function testing, platelets, survey, Humans, Cardiac and Cardiovascular Systems, Genetics (clinical), SSC, Kardiologi, Hematology, General Medicine, Europe, von Willebrand Diseases, 3121 General medicine, internal medicine and other clinical medicine, Blood Platelet Disorders
Abstract

Introduction Platelet function tests are used to screen and diagnose patients with possible inherited platelet function defects (IPFD). Some acquired platelet dysfunction may be caused by certain drugs or comorbidities, which need to be excluded before testing. Aims To identify current practice among centres performing platelet function tests in Northern Europe. Methods A total of 14 clinical centres from Sweden (six), Finland (two), Denmark (two), Norway (one), Estonia (two) and Iceland (one) completed the survey questionnaire, the population capture area of about 29.5 million. Results Six of the 14 (42.8%) centres providing platelet function assessment represent comprehensive treatment centres (EUHANET status). A Bleeding score (BS) or ISTH bleeding assessment tool (ISTH BAT score) is evaluated in 11/14 (78.6%) centres and family history in all. Five/14 centres (35.7%) use structured preanalytical patient instructions, and 10/14 (71.4%) recorded questionnaire on the preassessment of avoidance of any drugs or natural products affecting platelet functions. Preliminary investigations of screening tests of coagulation are performed in 10/14 (71.4%), while in 4/14 (28.6%), the diagnostic work-up of IPFD and von Willebrand disease (VWD) is performed simultaneously. The work-up of IPFD includes peripheral blood smear in 10/14 (71.4%), platelet aggregometry in all, flow cytometry in 10/14 (71.4%) and Platelet Function Analysis (PFA) in 3/11 (28.6%). Molecular genetic diagnosis is available in 7/14 (50%) centres. Conclusions The considerable variability in the current practice illustrates the need for harmonization between the Northern European centres according to the international registers (i.e. EUHASS) and IPFD guidelines (ISTH, EHA). Funding Agencies|Helsinki University Hospital [TYH2020318]

Published
2022

20. Warfarin is associated with higher rates of epistaxis compared to direct oral anticoagulants: A nationwide propensity score‐weighted study

Author

Ingason, Arnar B., primary, Rumba, Edward, additional, Hreinsson, Johann P., additional, Agustsson, Arnar S., additional, Lund, Sigrun H., additional, Palsson, Daniel A., additional, Reynisson, Indridi E., additional, Gudmundsdottir, Brynja R., additional, Onundarson, Pall T., additional, Tryggvason, Geir, additional, and Bjornsson, Einar S., additional

Published
2022
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23. 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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24. Risk Factors of Smoldering Multiple Myeloma: Results from the Screened Istopmm Study

Author

Thorsteinsdottir, Sigrun, Sverrisdottir, Ingigerdur, Rögnvaldsson, Sæmundur, Ekberg, Sara, Hultcrantz, Malin, Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Sigurdardottir, Margret, Thorsteinsdottir, Ingunn, Olafsson, Isleifur, Thordardottir, Asdis Rosa, Oskarsson, Jon Thorir, Sigurdardottir, Gudrun Asta, Eythorsson, Elias, Jonsson, Asbjorn, Gislason, Gauti, Olafsson, Andri, Sigurdsson, Jon Kristinn, Einarsson Long, Thorir, Durie, Brian GM, Harding, Stephen J., Landgren, Ola, Love, Thorvardur Jon, and Kristinsson, Sigurdur Y.

Published
2023
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25. Sars-Cov-2 Infection Does Not Lead to Progression of Monoclonal Gammopathy of Undetermined Significance: Results from the Population-Based Istopmm Screening Study

Author

Palmason, Robert, Ekberg, Sara, Eythorsson, Elias, Rögnvaldsson, Sæmundur, Thorsteinsdottir, Sigrun, Crowther, Michael, Reed, Elin Ruth, Oskarsson, Jon, Sigurdardottir, Gudrun Asta, Aspelund, Thor, Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Sigurdardottir, Margret, Thorsteinsdottir, Ingunn, Sveinsdottir, Signy Vala, Olafsson, Isleifur, Thordardottir, Asdis Rosa, Jonsson, Asbjorn, Indridason, Olafur, Gislason, Gauti, Olafsson, Andri, Sigurdsson, Jon Kristinn, Steingrimsdottir, Hlif, Long, Thorir E., Hultcrantz, Malin, Durie, Brian GM, Harding, Stephen J., Landgren, Ola, Palsson, Runolfur, Love, Thorvardur Jon, and Kristinsson, Sigurdur Y.

Published
2023
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26. Predicting an Underlying Clonal Plasma Cell Population in Light-Chain Monoclonal Gammopathy of Undetermined Significance Using Free Light-Chain Ratio

Author

Oskarsson, Jon Thorir, Rögnvaldsson, Sæmundur, Thorsteinsdottir, Sigrun, Long, Thorir E., Sigurdardottir, Gudrun Asta, Thordardottir, Asdis Rosa, Gislason, Gauti, Olafsson, Andri, Sigurdsson, Jon Kristinn, Eythorsson, Elias, Jonsson, Asbjorn, Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Palmason, Robert, Sigurdardottir, Margret, Thorsteinsdottir, Ingunn, Olafsson, Isleifur, Harding, Stephen J., Durie, Brian GM, Love, Thorvardur Jon, and Kristinsson, Sigurdur Y.

Published
2023
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27. The Early Benefits and Psychological Effects of Screening for Monoclonal Gammopathy of Undetermined Significance: Results of the Istopmm Study

Author

Rögnvaldsson, Sæmundur, Thorsteinsdottir, Sigrun, Oskarsson, Jon, Eythorsson, Elias, Sigurdardottir, Gudrun Asta, Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Sigurdardottir, Margret, Olafsson, Isleifur, Thorsteinsdottir, Ingunn, Bjornsson, Andri Steinthor, Wessman, Inga Dröfn, Gislason, Gauti, Sigurdsson, Jon Kristinn, Olafsson, Andri, Sverrisdottir, Ingigerdur, Long, Thorir E., Palmason, Robert, Sveinsdottir, Signy Vala, Sigurdsson, Fridbjorn, Thordardottir, Asdis Rosa, Jonsson, Asbjorn, Palsson, Runolfur, Indridason, Olafur, Reed, Elin Ruth, Hakonardottir, Gudlaug Katrin, Steingrimsdottir, Hlif, Hultcrantz, Malin, Durie, Brian GM, Harding, Stephen J., Aspelund, Thor, Landgren, Ola, Love, Thorvardur Jon, and Kristinsson, Sigurdur Y.

Published
2023
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29. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author

Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2020

30. Seventy-five genetic loci influencing the human red blood cell

Author

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

Published
2012
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32. 339 WARFARIN IS ASSOCIATED WITH HIGHER RATES OF UPPER BUT NOT LOWER GASTROINTESTINAL BLEEDING COMPARED TO DIRECT ORAL ANTICOAGULANTS: A POPULATION-BASED PROPENSITY SCORE MATCHED COHORT STUDY

Author

Ingason, Arnar B., primary, Hreinsson, Johann P., additional, Agustsson, Arnar S, additional, Lund, Sigrun H., additional, Reynisson, Indridi E., additional, Gudmundsdottir, Brynja R., additional, Onundarson, Pall T., additional, and Bjornsson, Einar, additional

Published
2020
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35. Sequence variants associating with urinary biomarkers

Author

Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2019

37. A comparison of platelet quality between platelets from healthy donors and hereditary hemochromatosis donors over seven‐day storage.

Author

Mikaelsdottir, Marta, Vidarsson, Brynjar, Runarsson, Gudmundur, Bjarnadottir, Una, Onundarson, Pall T., Sigurjonsson, Olafur E., and Halldorsdottir, Anna M.

Subjects
HYPERFERRITINEMIA, BLOOD platelets, BLOOD platelet aggregation, HEMOCHROMATOSIS, ERYTHROCYTES
Abstract

Background Therapeutic phlebotomy is the standard treatment of hereditary hemochromatosis (HH), the most common genetic disease in people of Northern European descent. Red cell concentrates from HH donors have been reported safe for transfusion, but little data is available on the storage properties of platelet concentrates from HH donors. Study Design and Methods Whole blood was collected from 10 healthy individuals and 10 newly diagnosed HH patients with elevated serum ferritin. Platelet‐rich plasma (PRP) was prepared and split into four 20‐mL units. Platelet quality tests were performed on days 0, 1, 3, 5, and 7 of storage, including platelet aggregation (ADP, arachidonic acid, collagen, and epinephrine agonists), blood gas analysis, flow cytometry (CD41, CD42b, and CD62P expression), and ELISA (sCD40L and sCD62p in supernatant). Results: Mean serum ferritin levels were higher in HH patients than in controls (847.5 vs 45.8 ng/mL, P <.001). Overall, no difference in quality test results was observed between the two study groups over 7‐day storage (P >.05), including blood gas analysis, platelet aggregation, and expression of surface (CD62p and CD42b) and secreted (sCD62P and sCD40L) activation markers. Expected alterations in metabolic (CO2 and glucose decrease, O2 and lactate increase, P <.001) and platelet activation markers (CD42b decrease, CD62P increase, P <.05) over time were observed in both groups. Conclusion: Although these findings indicate that platelets of individuals with HH are comparable to platelets from healthy donors, more extensive studies are needed before definite conclusions can be drawn. [ABSTRACT FROM AUTHOR]

Published
2021
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38. Response to plasma exchange and splenectomy in thrombotic thrombocytopenic purpura: a 10-year experience at a single institution

Author

Onundarson, Pall T., Rowe, Jacob M., Heal, Joanna M., and Francis, Charles W.

Subjects
Plasma exchange (Therapeutics) -- Usage, Splenectomy -- Usage, Thrombocytopenic purpura -- Care and treatment, Health
Abstract

* Background. - This study was designed to assess the response of patients with thrombotic thrombocytopenic purpura to plasma exchange and to evaluate the role of splenectomy after relapse. Methods. - The records of all patients with thrombotic thrombocytopenic purpura who had plasma exchange as primary treatment at a single center during a 10-year period were retrospectively reviewed. Response to the initial course of plasma exchange was determined, and the clinical outcome was evaluated in patients whose conditions were either refractory to exchange, responded without relapse, or relapsed after initial response. The outcome of patients treated during relapse with splenectomy was evaluated. A literature review was conducted to determine the clinical outcome in patients treated similarly. Results. - Twenty-seven patients for whom data could be evaluated had been treated in the 10-year period. Twenty-one (78%) responded to the plasma exchange, but the conditions of six (22%) were refractory and these patients died. Eight patients (30% had one or multiple relapses after initial response but had prolonged remissions after additional plasma exchange alone (two patients) or splenectomy (six patients). A review of 19 reports, including 224 patients with thrombotic thrombocytopenic purpura initially treated with plasma exchange, revealed similar findings, with initial response in 81% refractoriness in 19%, and relapse after initial response in 27% of patients. Conclusion. - Response to plasma exchange in thrombotic thrombocytopenic purpura is associated with an excellent prognosis, and most deaths occur in patients whose conditions are refractory. Relapses after initial response are frequent but can be managed successfully with additional plasma exchange or with splenectomy, which often induces long-term remissions. (Arch Intern Med. 1992;152:791-796)

Published
1992

40. Sequence variants associating with urinary biomarkers

Author

Benonisdottir, Stefania, primary, Kristjansson, Ragnar P, additional, Oddsson, Asmundur, additional, Steinthorsdottir, Valgerdur, additional, Mikaelsdottir, Evgenia, additional, Kehr, Birte, additional, Jensson, Brynjar O, additional, Arnadottir, Gudny A, additional, Sulem, Gerald, additional, Sveinbjornsson, Gardar, additional, Kristmundsdottir, Snaedis, additional, Ivarsdottir, Erna V, additional, Tragante, Vinicius, additional, Gunnarsson, Bjarni, additional, Runolfsdottir, Hrafnhildur Linnet, additional, Arthur, Joseph G, additional, Deaton, Aimee M, additional, Eyjolfsson, Gudmundur I, additional, Davidsson, Olafur B, additional, Asselbergs, Folkert W, additional, Hreidarsson, Astradur B, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sigurdsson, Gunnar, additional, Helgadottir, Anna, additional, Halldorsson, Bjarni V, additional, Masson, Gisli, additional, Holm, Hilma, additional, Onundarson, Pall T, additional, Indridason, Olafur S, additional, Benediktsson, Rafn, additional, Palsson, Runolfur, additional, Gudbjartsson, Daniel F, additional, Olafsson, Isleifur, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2018
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41. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

Author

Paul, Ds, Albers, Ca, Rendon, A, Voss, K, Stephens, J, Akkerman, Jan Willem N., Albers, Cornelis A., Ale, Algra, Abtehale Al Hussani, Hooman, Allayee, Franco, Anni, Asselbergs, Folkert W., Antony, Attwood, Beverley, Balkau, Stefania, Bandinelli, François, Bastardot, Saonli, Basu, Baumeister, Sebastian E., Jacques, Beckmann, Beben, Benyamin, Ginevra, Biino, Bis, Joshua C., Lorenzo, Bomba, Amélie, Bonnefond, Boomsma, Dorret I., Bradley, John R., François, Cambien, Chambers, John C., Marina, Ciullo, Cookson, William O., Francesco, Cucca, Ana, Cvejic, D'Adamo, ADAMO PIO, John, Danesh, Fabrice, Danjou, Debashish, Das, Gail, Davies, Paul IW de Bakker, de Boer, Rudolf A., Eco JC de Geus, Deary, Ian J., Dedoussis, George V., Panos, Deloukas, Maria, Dimitriou, Christian, Dina, Angela, Döring, Ulrich, Elling, David, Ellinghaus, Paul, Elliott, Gunnar, Engström, Jeanette, Erdmann, Tõnu, Esko, Evans, David M., Eyjolfsson, Gudmundur I., Mario, Falchi, Wei, Feng, Ferreira, Manuel A., Luigi, Ferrucci, Krista, Fischer, Folsom, Aaron R., Paolo, Fortina, Andre, Franke, Lude, Franke, Frazer, Ian H., Philippe, Froguel, Renzo, Galanello, Ganesh, Santhi K., Garner, Stephen F., Gasparini, Paolo, Bernd, Genser, Gibson, Quince D., Christian, Gieger, Girotto, Giorgia, Glazer, Nicole L., Martin, Gögele, Goodall, Alison H., Andreas, Greinacher, Gudbjartsson, Daniel F., Chris, Hammond, Harris, Sarah E., Jaana, Hartiala, Anna Liisa Hartikainen, Hazen, Stanley L., Heckbert, Susan R., Hedblad, Bo, Christian, Hengstenberg, Micha, Hersch, Hicks, Andrew A., Hilma, Holm, Jouke Jan Hottenga, Thomas, Illig, Marjo Riitta Jarvelin, Jennifer, Jolley, Steve, Jupe, Mika, Kähönen, Naoyuki, Kamatani, Stavroula, Kanoni, Kema, Ido P., Kemp, John P., Jyoti, Khadake, Kay Tee Khaw, Kleber, Marcus E., Kooner, Jaspal S., Peter, Kovacs, Brigitte, Kühnel, Marie Christine Kyrtsonis, Yann, Labrune, Vasiliki, Lagou, Claudia, Langenberg, Terho, Lehtimäki, Xinzhong, Li, Liming, Liang, Lifelines Cohort Study, Heather Lloyd Jones, Ruth JF Loos, Lopez, Lorna M., Thomas, Lumley, Leo Pekka Lyytikäinen, Winfried, Maerz, Reedik, Mägi, Massimo, Mangino, Martin, Nicholas G., Andrea, Maschio, Irene Mateo Leach, Barbara, Mcknight, Stuart, Meacham, Medland, Sarah E., Christa, Meisinger, Olle, Melander, Yasin, Memari, Andres, Metspalu, Kathy, Miller, Mitchell, Braxton D., Moffatt, Miriam F., Montgomery, Grant W., Carmel, Moore, Federico, Murgia, Yusuke, Nakamura, Matthias, Nauck, Gerjan, Navis, Nolte, Ilja M., Ute, Nöthlings, Teresa, Nutile, Yukinori, Okada, Isleifur, Olafsson, Onundarson, Pall T., O’Reilly, Paul F., Ouwehand, Willem H., Debora, Parracciani, Afshin, Parsa, Paul, Dirk S., Penninger, Josef M., Penninx, Brenda W., Mario, Pirastu, Pirastu, Nicola, Giorgio, Pistis, Eleonora, Porcu, Laura, Portas, David, Porteous, Anneli, Pouta, Pramstaller, Peter P., Inga, Prokopenko, Psaty, Bruce M., Janne, Pullat, Aparna, Radhakrishnan, Olli, Raitakari, Ramiro Ramirez Solis, Augusto, Rendon, Ried, Janina S., Ring, Susan M., Robino, Antonietta, Rotter, Jerome I., Daniela, Ruggiero, Aimo, Ruokonen, Cinzia, Sala, Andres, Saluments, Samani, Nilesh J., Jennifer, Sambrook, Serena, Sanna, David, Schlessinger, Schmidt, Carsten O., Stefan, Schreiber, Heribert, Schunkert, James, Scott, Joban, Sehmi, Jovana Serbanovic Canic, So Youn Shin, Shuldiner, Alan R., Rob, Sladek, Smit, Johannes H., George Davey Smith, Gustav Smith, J., Smith, Nicholas L., Harold, Snieder, Nicole, Soranzo, Rossella, Sorice, Spector, Timothy D., Starr, John M., Kari, Stefansson, Derek, Stemple, Jonathan, Stephens, Michael, Stumvoll, Patrick, Sulem, Atsushi, Takahashi, Sian Tsung Tan, Toshiko, Tanaka, Clara, Tang, Weihong, Tang, WH Wilson Tang, Kent, Taylor, Albert, Tenesa, Alexander, Teumer, Swee Lay Thein, Unnur, Thorsteinsdottir, Daniela, Toniolo, Anke, Tönjes, Traglia, Michela, Manuela, Uda, Sheila, Ulivi, Pim van der Harst, Ellen van der Schoot, C., van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Niek, Verweij, Visscher, Peter M., Uwe, Völker, Peter, Vollenweider, Katrin, Voss, Wareham, Nicholas J., Lorenz, Wernisch, Harm Jan Westra, Whitfield, John B., Herich, Wichmann, Wiggins, Kerri L., Gonneke, Willemsen, Winkelmann, Bernhard R., Gerald, Wirnsberger, Bruce HR Wolffenbuttel, Jian, Yang, Tsun Po Yang, Weihua, Zhang, Jing Hua Zhao, Paavo, Zitting, Jaap Jan Zwaginga, van der Harst, P, Chambers, Jc, Soranzo, N, Ouwehand, Wh, Deloukas, P., Paul, D, Albers, Ca, Rendon, A, Voss, K, Stephens, J, Jan Willem N., Akkerman, Cornelis A., Alber, Ale, Algra, Abtehale Al, Hussani, Hooman, Allayee, Franco, Anni, Folkert W., Asselberg, Antony, Attwood, Beverley, Balkau, Stefania, Bandinelli, François, Bastardot, Saonli, Basu, Sebastian E., Baumeister, Jacques, Beckmann, Beben, Benyamin, Ginevra, Biino, Joshua C., Bi, Lorenzo, Bomba, Amélie, Bonnefond, Dorret I., Boomsma, John R., Bradley, François, Cambien, John C., Chamber, Marina, Ciullo, William O., Cookson, Francesco, Cucca, Ana, Cvejic, D'Adamo, ADAMO PIO, John, Danesh, Fabrice, Danjou, Debashish, Da, Gail, Davie, Paul IW de, Bakker, Rudolf A., de Boer, Eco JC de, Geu, Ian J., Deary, George V., Dedoussi, Panos, Delouka, Maria, Dimitriou, Christian, Dina, Angela, Döring, Ulrich, Elling, David, Ellinghau, Paul, Elliott, Gunnar, Engström, Jeanette, Erdmann, Tõnu, Esko, David M., Evan, Gudmundur I., Eyjolfsson, Mario, Falchi, Wei, Feng, Manuel A., Ferreira, Luigi, Ferrucci, Krista, Fischer, Aaron R., Folsom, Paolo, Fortina, Andre, Franke, Lude, Franke, Ian H., Frazer, Philippe, Froguel, Renzo, Galanello, Santhi K., Ganesh, Stephen F., Garner, Gasparini, Paolo, Bernd, Genser, Quince D., Gibson, Christian, Gieger, Girotto, Giorgia, Nicole L., Glazer, Martin, Gögele, Alison H., Goodall, Andreas, Greinacher, Daniel F., Gudbjartsson, Chris, Hammond, Sarah E., Harri, Jaana, Hartiala, Anna Liisa, Hartikainen, Stanley L., Hazen, Susan R., Heckbert, Bo, Hedblad, Christian, Hengstenberg, Micha, Hersch, Andrew A., Hick, Hilma, Holm, Jouke Jan, Hottenga, Thomas, Illig, Marjo Riitta, Jarvelin, Jennifer, Jolley, Steve, Jupe, Mika, Kähönen, Naoyuki, Kamatani, Stavroula, Kanoni, Ido P., Kema, John P., Kemp, Jyoti, Khadake, Kay Tee, Khaw, Marcus E., Kleber, Jaspal S., Kooner, Peter, Kovac, Brigitte, Kühnel, Marie Christine, Kyrtsoni, Yann, Labrune, Vasiliki, Lagou, Claudia, Langenberg, Terho, Lehtimäki, Xinzhong, Li, Liming, Liang, Lifelines Cohort, Study, Heather Lloyd, Jone, Ruth JF, Loo, Lorna M., Lopez, Thomas, Lumley, Leo Pekka, Lyytikäinen, Winfried, Maerz, Reedik, Mägi, Massimo, Mangino, Nicholas G., Martin, Andrea, Maschio, Irene Mateo, Leach, Barbara, Mcknight, Stuart, Meacham, Sarah E., Medland, Christa, Meisinger, Olle, Melander, Yasin, Memari, Andres, Metspalu, Kathy, Miller, Braxton D., Mitchell, Miriam F., Moffatt, Grant W., Montgomery, Carmel, Moore, Federico, Murgia, Yusuke, Nakamura, Matthias, Nauck, Gerjan, Navi, Ilja M., Nolte, Ute, Nöthling, Teresa, Nutile, Yukinori, Okada, Isleifur, Olafsson, Pall T., Onundarson, Paul F., O’Reilly, Willem H., Ouwehand, Debora, Parracciani, Afshin, Parsa, Dirk S., Paul, Josef M., Penninger, Brenda W., Penninx, Mario, Pirastu, Pirastu, Nicola, Giorgio, Pisti, Eleonora, Porcu, Laura, Porta, David, Porteou, Anneli, Pouta, Peter P., Pramstaller, Inga, Prokopenko, Bruce M., Psaty, Janne, Pullat, Aparna, Radhakrishnan, Olli, Raitakari, Ramiro Ramirez, Soli, Augusto, Rendon, Janina S., Ried, Susan M., Ring, Robino, Antonietta, Jerome I., Rotter, Daniela, Ruggiero, Aimo, Ruokonen, Cinzia, Sala, Andres, Salument, Nilesh J., Samani, Jennifer, Sambrook, Serena, Sanna, David, Schlessinger, Carsten O., Schmidt, Stefan, Schreiber, Heribert, Schunkert, James, Scott, Joban, Sehmi, Jovana Serbanovic, Canic, So Youn, Shin, Alan R., Shuldiner, Rob, Sladek, Johannes H., Smit, George Davey, Smith, J., Gustav Smith, Nicholas L., Smith, Harold, Snieder, Nicole, Soranzo, Rossella, Sorice, Timothy D., Spector, John M., Starr, Kari, Stefansson, Derek, Stemple, Jonathan, Stephen, Michael, Stumvoll, Patrick, Sulem, Atsushi, Takahashi, Sian Tsung, Tan, Toshiko, Tanaka, Clara, Tang, Weihong, Tang, WH Wilson, Tang, Kent, Taylor, Albert, Tenesa, Alexander, Teumer, Swee Lay, Thein, Unnur, Thorsteinsdottir, Daniela, Toniolo, Anke, Tönje, Traglia, Michela, Manuela, Uda, Sheila, Ulivi, Pim van der, Harst, C., Ellen van der Schoot, Wiek H., van Gilst, L., Joost van Pelt, Dirk J., van Veldhuisen, Niek, Verweij, Peter M., Visscher, Uwe, Völker, Peter, Vollenweider, Katrin, Vo, Nicholas J., Wareham, Lorenz, Wernisch, Harm Jan, Westra, John B., Whitfield, Herich, Wichmann, Kerri L., Wiggin, Gonneke, Willemsen, Bernhard R., Winkelmann, Gerald, Wirnsberger, Bruce HR, Wolffenbuttel, Jian, Yang, Tsun Po, Yang, Weihua, Zhang, Jing Hua, Zhao, Paavo, Zitting, Jaap Jan, Zwaginga, van der Harst, P, Chambers, Jc, Soranzo, N, Ouwehand, Wh, Deloukas, P., Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England, UCL, UCL Canc Inst, London WC1E 6BT, England, Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England, Natl Hlth Serv NHS Blood & Transplant, Cambridge CB2 0PT, England, Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands, Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England, NIHR Biomed Res Ctr, Cambridge CB2 0PT, England, Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9713 GZ Groningen, Netherlands, Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands, Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Biostat, London W2 1NY, England, Hammersmith Hosp, Imperial Coll Healthcare NHS Trust, London W12 0HS, England, Royal Brompton & Harefield Hosp NHS Trust, London SW3 6NP, England, Ealing Hosp NHS Trust, Southall UB1 3HW, Middx, England, Psychiatry, Epidemiology and Data Science, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, and Cardiovascular Centre (CVC)

Subjects
Netherlands Twin Register (NTR), Erythrocytes, Genome-wide association study, UNCERTAINTY, Regulatory Sequences, Nucleic Acid, VARIANTS, ANNOTATION, COLORECTAL-CANCER, Histones, 0302 clinical medicine, BINDING, Cluster Analysis, Myeloid Cells, Genetics (clinical), Genetics, hematological trait, 0303 health sciences, Chromosome Mapping, MRP4 ABCC4, Chromatin, Nucleosomes, Phenotype, Organ Specificity, 030220 oncology & carcinogenesis, Blood Platelets, Quantitative Trait Loci, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, DYNAMIN 3, 03 medical and health sciences, Quantitative Trait, Heritable, MEGAKARYOCYTES, Humans, Cell Lineage, ddc:610, GENOME-WIDE ASSOCIATION, Enhancer, Transcription factor, Gene, ChIA-PET, 030304 developmental biology, Research, Genetic Variation, DNA, Chromatin Assembly and Disassembly, Genetic architecture, Gene Expression Regulation, Genome-Wide Association Study
Abstract

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Nearly three-quarters of the 143 genetic signals associated with platelet and erythrocyte phenotypes identified by meta-analyses of genome-wide association (GWA) studies are located at non-protein-coding regions. Here, we assessed the role of candidate regulatory variants associated with cell type-restricted, closely related hematological quantitative traits in biologically relevant hematopoietic cell types. We used formaldehyde-assisted isolation of regulatory elements followed by next-generation sequencing (FAIRE-seq) to map regions of open chromatin in three primary human blood cells of the myeloid lineage. In the precursors of platelets and erythrocytes, as well as in monocytes, we found that open chromatin signatures reflect the corresponding hematopoietic lineages of the studied cell types and associate with the cell type-specific gene expression patterns. Dependent on their signal strength, open chromatin regions showed correlation with promoter and enhancer histone marks, distance to the transcription start site, and ontology classes of nearby genes. Cell type-restricted regions of open chromatin were enriched in sequence variants associated with hematological indices. The majority (63.6%) of such candidate functional variants at platelet quantitative trait loci (QTLs) coincided with binding sites of five transcription factors key in regulating megakaryopoiesis. We experimentally tested 13 candidate regulatory variants at 10 platelet QTLs and found that 10 (76.9%) affected protein binding, suggesting that this is a frequent mechanism by which regulatory variants influence quantitative trait levels. Our findings demonstrate that combining large-scale GWA data with open chromatin profiles of relevant cell types can be a powerful means of dissecting the genetic architecture of closely related quantitative traits. Marie-Curie Initial Training Network NETSIM British Heart Foundation RG/09/12/28096 National Institutes for Health RP-PG-0310-1002 Wellcome Trust 098051 info:eu-repo/grantAgreement/EC/FP7/282510

Published
2013

42. FLT3stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

Author

Saevarsdottir, Saedis, Olafsdottir, Thorunn A., Ivarsdottir, Erna V., Halldorsson, Gisli H., Gunnarsdottir, Kristbjorg, Sigurdsson, Asgeir, Johannesson, Ari, Sigurdsson, Jon K., Juliusdottir, Thorhildur, Lund, Sigrun H., Arnthorsson, Asgeir O., Styrmisdottir, Edda L., Gudmundsson, Julius, Grondal, Gerdur M., Steinsson, Kristjan, Alfredsson, Lars, Askling, Johan, Benediktsson, Rafn, Bjarnason, Ragnar, Geirsson, Arni J., Gudbjornsson, Bjorn, Gudjonsson, Hallgrimur, Hjaltason, Haukur, Hreidarsson, Astradur B., Klareskog, Lars, Kockum, Ingrid, Kristjansdottir, Helga, Love, Thorvardur J., Ludviksson, Bjorn R., Olsson, Tomas, Onundarson, Pall T., Orvar, Kjartan B., Padyukov, Leonid, Sigurgeirsson, Bardur, Tragante, Vinicius, Bjarnadottir, Kristbjorg, Rafnar, Thorunn, Masson, Gisli, Sulem, Patrick, Gudbjartsson, Daniel F., Melsted, Pall, Thorleifsson, Gudmar, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari

Abstract

Autoimmune thyroid disease is the most common autoimmune disease and is highly heritable1. Here, by using a genome-wide association study of 30,234 cases and 725,172 controls from Iceland and the UK Biobank, we find 99 sequence variants at 93 loci, of which 84 variants are previously unreported2–7. A low-frequency (1.36%) intronic variant in FLT3(rs76428106-C) has the largest effect on risk of autoimmune thyroid disease (odds ratio (OR) = 1.46, P= 2.37 × 10−24). rs76428106-C is also associated with systemic lupus erythematosus (OR = 1.90, P= 6.46 × 10−4), rheumatoid factor and/or anti-CCP-positive rheumatoid arthritis (OR = 1.41, P= 4.31 × 10−4) and coeliac disease (OR = 1.62, P= 1.20 × 10−4). FLT3encodes fms-related tyrosine kinase 3, a receptor that regulates haematopoietic progenitor and dendritic cells. RNA sequencing revealed that rs76428106-C generates a cryptic splice site, which introduces a stop codon in 30% of transcripts that are predicted to encode a truncated protein, which lacks its tyrosine kinase domains. Each copy of rs76428106-C doubles the plasma levels of the FTL3 ligand. Activating somatic mutations in FLT3are associated with acute myeloid leukaemia8with a poor prognosis and rs76428106-C also predisposes individuals to acute myeloid leukaemia (OR = 1.90, P= 5.40 × 10−3). Thus, a predicted loss-of-function germline mutation in FLT3causes a reduction in full-length FLT3, with a compensatory increase in the levels of its ligand and an increased disease risk, similar to that of a gain-of-function mutation.

Published
2020
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43. Oral anticoagulant monitoring: Are we on the right track?

Author

Flygenring, Bjorn and Onundarson, Pall T.

Subjects
*ALGORITHMS, *ANTICOAGULANTS, *BENZIMIDAZOLES, *DRUG monitoring, *DRUG side effects, *PATIENT monitoring, *PYRIDINE, *THROMBOEMBOLISM, *VITAMIN K, *PROTHROMBIN time, *CHEMICAL inhibitors
Abstract

Vitamin K antagonists (VKAs) cannot be administered without regular monitoring in order to assure their efficacy and safety. Indeed, if well managed, the VKAs appear to be no less efficacious or safe than the newer direct oral anticoagulants (DOACs). Although it is claimed that no regular monitoring of the DOACs is needed, their levels are increasingly being measured under a variety of circumstances, for example, prior to surgery, in suspected overdose, to confirm effective reversal, in patients with malabsorption and to assess patient compliance. Although no therapeutic range has been identified for the DOACs, it has been demonstrated for dabigatran and edoxaban that their antithrombotic effect increases gradually with increasing concentrations and that the risk of major bleeding also gradually increases. Furthermore, it has been determined that almost all dabigatran‐related thrombotic events occur in patients with the lowest quartile concentration of the drug. This suggests that to assure an ideal effect of DOACs in all patients taking them, some form of regular monitoring and dose tailoring should be performed. For the vitamin K antagonists, the best outcome is obtained using formal algorithms and centralized management. Furthermore, data suggest that replacing the standard prothrombin time as a monitoring test may increase the stability of VKA anticoagulation with consequent reduction in thromboembolism without an increase in bleeding. Thus, it is likely that the outcome of all current oral anticoagulants can be improved in the coming years by improving monitoring and tailoring their effect. [ABSTRACT FROM AUTHOR]

Published
2019
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45. Thromboembolism and Clinically Relevant Bleeding in Relation to Warfarin Anticoagulation Variability in Patients Monitored with Either Fiix-Prothrombin Time or Quick-Prothrombin Time. the Fiix-Trial

Author

Oskarsdottir, Alma R., primary, Gudmundsdottir, Brynja R., additional, Indridason, Olafur S., additional, Jensdottir, Hulda M., additional, Arnar, David O., additional, Bjornsson, Einar S., additional, Magnusson, Magnus K., additional, Lund, Sigrun H., additional, Vidarsson, Brynjar, additional, Francis, Charles W., additional, and Onundarson, Pall T., additional

Published
2015
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46. Gender Differences during Long-Term Warfarin Anticoagulation in Patients with Atrial Fibrillation Monitored with Fiix-Prothrombin Time or Prothrombin Time. the Fiix Trial

Author

Jensdottir, Hulda M., primary, Vidarsson, Brynjar, additional, Gudmundsdottir, Brynja R., additional, Oskarsdottir, Alma R., additional, Indridason, Olafur S., additional, Arnar, David O., additional, Bjornsson, Einar S., additional, Magnusson, Magnus K., additional, Lund, Sigrun H., additional, Francis, Charles W., additional, and Onundarson, Pall T., additional

Published
2015
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47. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis

Author

Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Abstract

Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.

Published
2019
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48. Revised Definition of Free Light Chains in Serum and Light Chain Monoclonal Gammopathy of Undetermined Significance: Results of the Istopmm Study

Author

Einarsson Long, Thorir, Rögnvaldsson, Sæmundur, Thorsteinsdottir, Sigrun, Sverrisdottir, Ingigerdur, Eythorsson, Elias, Indridason, Olafur, Palsson, Runolfur, Aspelund, Thor, Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Sigurdardottir, Margret, Thorsteinsdottir, Ingunn, Olafsson, Isleifur, Thordardottir, Asdis Rosa, Jonsson, Asbjorn, Gislason, Gauti, Olafsson, Andri, Hultcrantz, Malin, Durie, Brian GM, Harding, Stephen J., Love, Thorvardur Jon, Landgren, Ola, and Kristinsson, Sigurdur Y.

Abstract

Background: Serum free light chain (FLC) measurement, consisting of serum free kappa, serum free lambda, and a calculated FLC ratio (kappa/lambda), plays a pivotal role in the diagnosis, risk stratification and management of plasma cell disorders. Light chain monoclonal gammopathy of undetermined significance (LC-MGUS), is defined as abnormal FLC ratio with elevation of the involved FLC without evidence of heavy chain M protein or end-organ damage attributed to the plasma cell disorder. Several years ago, reference intervals for serum kappa (3.3-19.4 mg/L) and lambda (5.7-26.3 mg/L) FLC and FLC ratio (0.26-1.65) were defined in a small retrospective cohort (N = 282) of healthy individuals. Limitation of these reference intervals include inaccurate distributions among individuals with impaired kidney function. Recently, we addressed this matter in a large population-based study focusing on individuals with estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73m 2, the results of which led to redefined reference intervals for patients with chronic kidney disease (Long et al, Blood Cancer J. 2022).

Published
2023
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49. Monoclonal Gammopathy of Undetermined Significance and the Risk of Thrombotic Events: Results from Istopmm, a Population-Based Screening Study in Iceland

Author

Rögnvaldsson, Sæmundur, Gasparini, Alessandro, Thorsteinsdottir, Sigrun, Sverrisdottir, Ingigerdur, Eythorsson, Elias, Long, Thorir E., Vidarsson, Brynjar, Onundarson, Pall T., Agnarsson, Bjarni, Sigurdardottir, Margret, Olafsson, Isleifur, Thorsteinsdottir, Ingunn, Oskarsson, Jon, Palmason, Robert, Sveinsdottir, Signy Vala, Thordardottir, Asdis Rosa, Jonsson, Asbjorn, Palsson, Runolfur, Indridason, Olafur, Aspelund, Thor, Gislason, Gauti, Olafsson, Andri, Sigurdsson, Jon Kristinn, Hultcrantz, Malin, Durie, Brian GM, Harding, Stephen J., Landgren, Ola, Love, Thorvardur Jon, and Kristinsson, Sigurdur Y.

Abstract

Introduction:

Published
2023
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50. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Author

Gretarsdottir, Solveig, Baas, Annette F., Thorleifsson, Gudmar, Holm, Hilma, den Heijer, Martin, de Vries, Jean-Paul P. M., Kranendonk, Steef E., Zeebregts, Clark J. A. M., van Sterkenburg, Steven M., Geelkerken, Robert H., van Rij, Andre M., Williams, Michael J. A., Boll, Albert P. M., Kostic, Jelena P., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Walters, G. Bragi, Masson, Gisli, Sulem, Patrick, Saemundsdottir, Jona, Mouy, Magali, Magnusson, Kristinn P., Tromp, Gerard, Elmore, James R., Sakalihasan, Natzi, Limet, Raymond, Defraigne, Jean-Olivier, Ferrell, Robert E., Ronkainen, Antti, Ruigrok, Ynte M., Wijmenga, Cisca, Grobbee, Diederick E., Shah, Svati H., Granger, Christopher B., Quyyumi, Arshed A., Vaccarino, Viola, Patel, Riyaz S., Zafari, A. Maziar, Levey, Allan I., Austin, Harland, Girelli, Domenico, Pignatti, Pier Franco, Olivieri, Oliviero, Martinelli, Nicola, Malerba, Giovanni, Trabetti, Elisabetta, Becker, Lewis C., Becker, Diane M., Reilly, Muredach P., Rader, Daniel J., Mueller, Thomas, Dieplinger, Benjamin, Haltmayer, Meinhard, Urbonavicius, Sigitas, Lindblad, Bengt, Gottsater, Anders, Gaetani, Eleonora, Pola, Roberto, Wells, Philip, Rodger, Marc, Forgie, Melissa, Langlois, Nicole, Corral, Javier, Vicente, Vicente, Fontcuberta, Jordi, Espana, Francisco, Grarup, Niels, Jorgensen, Torben, Witte, Daniel R., Hansen, Torben, Pedersen, Oluf, Aben, Katja K., de Graaf, Jacqueline, Holewijn, Suzanne, Folkersen, Lasse, Franco-Cereceda, Anders, Eriksson, Per, Collier, David A., Stefansson, Hreinn, Steinthorsdottir, Valgerdur, Rafnar, Thorunn, Valdimarsson, Einar M., Magnadottir, Hulda B., Sveinbjornsdottir, Sigurlaug, Olafsson, Isleifur, Magnusson, Magnus Karl, Palmason, Robert, Haraldsdottir, Vilhelmina, Andersen, Karl, Onundarson, Pall T., Thorgeirsson, Gudmundur, Kiemeney, Lambertus A., Powell, Janet T., Carey, David J., Kuivaniemi, Helena, Lindholt, Jes S., Jones, Gregory T., Kong, Augustine, Blankensteijn, Jan D., Matthiasson, Stefan E., Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2010

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