SynthesisCommunications biology2024
Novel loci and biomedical consequences of iron homoeostasis variation.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed.
- African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children.Nature communications · 2026Article
- Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes.JHEP reports : innovation in hepatology · 2026Article
- Unravelling genetic susceptibility and causal factors in liver health using MRI quantification of inflammation, fat and iron in the liver.Human genomics · 2026Article
- Iron Homeostasis as a Mediator Linking Central Obesity with MASLD and Primary Liver Cancer: A Two-Step Mendelian Randomization Study.Biomedicines · 2025Article
- Cohort profile: Copenhagen Hospital Biobank-chronic inflammatory disease-inflammatory bowel disease (CHB-CID:IBD) genetic cohort.European journal of epidemiology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
74 authors.
Elias Allara *BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. ea431@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0002-1634-8330
Steven Bell *Precision Breast Cancer Institute, Department of Oncology, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6774-3149
Rebecca SmithBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Spencer J KeeneBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Dipender GillDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.ORCID http://orcid.org/0000-0001-7312-7078
Liam GazianoBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-2059-8081
Deisy Morselli GysiMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Feiyi WangGenetic Epidemiology Lab, Institute for Molecular Medicine Finland, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8179-488X
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8223-8957
Amy MasonBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-8019-0777
Savita KarthikeyanBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
R Thomas LumbersUCL Institute of Health Informatics, London, UK.ORCID http://orcid.org/0000-0002-9077-4741
Emmanuela BonglackBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Willem OuwehandDepartment of Haematology, University of Cambridge, Cambridge, UK.
David J RobertsRadcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Joseph DowsettDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5381-2633
Sisse Rye OstrowskiDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
Margit Hørup LarsenDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
Ole Birger PedersenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2312-5976
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Karina BanasikNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2489-2499
Christian ErikstrupDepartment of Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-6551-6647
DBDS Genomic Consortium
Jonathan MitchellEurac Research, Institute for Biomedicine, Bolzano, Italy.
Christian FuchsbergerEurac Research, Institute for Biomedicine, Bolzano, Italy.
Cristian PattaroEurac Research, Institute for Biomedicine, Bolzano, Italy.
Peter P PramstallerEurac Research, Institute for Biomedicine, Bolzano, Italy.ORCID http://orcid.org/0000-0002-9831-8302
Domenico GirelliDepartment of Medicine, Section of Internal Medicine, EuroBloodNet Referral Center, University Hospital of Verona, Verona, Italy.ORCID http://orcid.org/0000-0001-9684-1899
Mikko ArvasFinnish Red Cross Blood Service, Helsinki, Finland.ORCID http://orcid.org/0000-0002-6902-8488
Jarkko ToivonenFinnish Red Cross Blood Service, Helsinki, Finland.ORCID http://orcid.org/0000-0002-6843-5831
Sophie Molnosmsg life central europe gmbh, München, Germany.
Annette PetersInstitute of Epidemiology, Helmholtz Munich, Neuherberg, Germany.
Ozren PolasekFaculty of Medicine, University of Split, Split, Croatia.ORCID http://orcid.org/0000-0002-5765-1862
Igor RudanCentre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, Scotland, Edinburgh, UK.
Caroline HaywardMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Ciara McDonnellCentre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, Scotland, Edinburgh, UK.
Nicola PirastuCentre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, Scotland, Edinburgh, UK.ORCID http://orcid.org/0000-0002-5363-3886
James F WilsonCentre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, Scotland, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5751-9178
Katja van den HurkDonor Studies, Department of Donor Medicine Research, Sanquin Research, Amsterdam, The Netherlands.
Franke QueeDonor Studies, Department of Donor Medicine Research, Sanquin Research, Amsterdam, The Netherlands.
Luigi FerrucciLongitudinal studies section, National Institute on Aging, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-6273-1613
Stefania BandinelliGeriatric Unit, Azienda Sanitaria Firenze (ASF), Florence, Italy.
Toshiko TanakaLongitudinal studies section, National Institute on Aging, Baltimore, MD, USA.
Giorgia GirottoInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy.ORCID http://orcid.org/0000-0003-4507-6589
Maria Pina ConcasInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy.ORCID http://orcid.org/0000-0003-3598-2537
Alessandro PecoriInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, Trieste, Italy.
Niek VerweijDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Pim van der HarstDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Yordi J van de VegteDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID http://orcid.org/0000-0002-6689-0144
Lambertus A KiemeneyIQ Health, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0002-2368-1326
Fred C SweepDepartment of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0003-1103-3070
Tessel E GaleslootIQ Health, Radboud University Medical Center, Nijmegen, The Netherlands.
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Daniel GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Egil FerkingstaddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
FinnGen Consortium
Luc DjousseMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Kelly ChoMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Michael InouyeBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-9413-6520
Stephen BurgessBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-5365-8760
Beben BenyaminAustralian Centre for Precision Health & Allied Health and Human Performance, University of South Australia, Adelaide, Australia.ORCID http://orcid.org/0000-0001-5608-2293
Konrad OexleNeurogenetic Systems Analysis Group, Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.
Dorine SwinkelsDepartment of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Magnus MagnussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8593-4934
Andrea GannaGenetic Epidemiology Lab, Institute for Molecular Medicine Finland, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8147-240X
Michael GazianoMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
Kerry IveyMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.
John DaneshBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Alexandre PereiraMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7782-5540
Angela M WoodBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-7937-304X
Adam S ButterworthBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-6915-9015
Emanuele Di AngelantonioBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. ed303@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0001-8776-6719
Funding
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1MHISPANIC SECONDARY STROKE PREVENTION INITIATIVER01MD009164 · NIMHD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN · 2014 to 2018
$1.9MMedical Research Council MR/L003120/1NIMHD NIH HHS R01 MD009164NLM NIH HHS R01 LM010098Wellcome Trust 225790
Abstract
Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported. Mapping to putative genes indicated involvement in iron-trait expression, erythropoiesis, immune response and cellular trafficking. Mendelian randomisation of 292 disease outcomes in 1,492,717 participants revealed associations of iron-related loci and iron status with selected health outcomes across multiple domains. These associations were largely driven by HFE, which was associated with the largest iron variation. Our findings enhance understanding of iron homoeostasis and its biomedical consequences, suggesting that lifelong exposure to higher iron levels is likely associated with lower risk of anaemia-related disorders and higher risk of genitourinary, musculoskeletal, infectious and neoplastic diseases.
Indexed as
HepcidinsHomeostasisIronReceptors, TransferrinFemaleGenome-Wide Association StudyHemochromatosis ProteinHumansMaleMendelian Randomization AnalysisPolymorphism, Single NucleotideHemochromatosis ProteinHepcidinsHFE protein, humanIronReceptors, Transferrin
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