A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
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...
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ftdatacite:10.17863/cam.64196 2023-05-15T16:50:22+02:00 A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis 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 2021 https://dx.doi.org/10.17863/cam.64196 https://www.repository.cam.ac.uk/handle/1810/317086 unknown Apollo - University of Cambridge Repository Creative Commons Attribution 4.0 International https://creativecommons.org/licenses/by/4.0/legalcode cc-by-4.0 CC-BY Article /631/208/457/649 /692/308/2056 /45 /45/43 article Text Article article-journal ScholarlyArticle 2021 ftdatacite https://doi.org/10.17863/cam.64196 2021-11-05T12:55:41Z 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. Text Iceland DataCite Metadata Store (German National Library of Science and Technology) |
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Article /631/208/457/649 /692/308/2056 /45 /45/43 article |
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Article /631/208/457/649 /692/308/2056 /45 /45/43 article 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 A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
topic_facet |
Article /631/208/457/649 /692/308/2056 /45 /45/43 article |
description |
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. |
format |
Text |
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 |
author_facet |
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 |
author_sort |
Bell, Steven |
title |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
title_short |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
title_full |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
title_fullStr |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
title_full_unstemmed |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
title_sort |
genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis |
publisher |
Apollo - University of Cambridge Repository |
publishDate |
2021 |
url |
https://dx.doi.org/10.17863/cam.64196 https://www.repository.cam.ac.uk/handle/1810/317086 |
genre |
Iceland |
genre_facet |
Iceland |
op_rights |
Creative Commons Attribution 4.0 International https://creativecommons.org/licenses/by/4.0/legalcode cc-by-4.0 |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.17863/cam.64196 |
_version_ |
1766040522449747968 |