SynthesisCommunications biology2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
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In one paragraph
Synthesis in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 7 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed, 7 pooled it
18.7field-weighted citation impact, top 1% of its field
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
102 citing papers in PubMed, 7 syntheses or guidelines pooled it, 168 citations in OpenAlex.
- Novel loci and biomedical consequences of iron homoeostasis variation.Communications biology · 2024Pooled it
- Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.Annals of neurology · 2024Pooled it
- The role of genetically predicted serum iron levels on neurodegenerative and cardiovascular traits.Scientific reports · 2024Pooled it
- Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.Nature genetics · 2024Pooled it
- Iron Status and Risk of Heart Disease, Stroke, and Diabetes: A Mendelian Randomization Study in European Adults.Journal of the American Heart Association · 2024Pooled it
- Iron Status and NAFLD among European Populations: A Bidirectional Two-Sample Mendelian Randomization Study.Nutrients · 2022Pooled it
- Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.Communications biology · 2022Pooled it
- Cerebrospinal Fluid from Restless Legs Syndrome Patients Reduces Iron Uptake in Blood-Brain Barrier Endothelial Cells by Disrupting the Regulation of Transferrin Receptors.Annals of neurology · 2026Article
- Functional Iron-Transport Genes-International journal of molecular sciences · 2026Article
- Bidirectional genetic and phenotypic links between smoking and striatal iron content involving dopaminergic and inflammatory pathways.Addiction (Abingdon, England) · 2026Article
- Mendelian Randomization Analysis of Systemic Iron Status and Risk of Metabolic Dysfunction-Associated Steatotic Liver Disease.Metabolites · 2026Article
- Genetically predicted anti‑rubella virus IgG levels and dermatitis risk: A two‑sample Mendelian randomization study.Virus research · 2026Article
- Genome-wide association of pica within a cohort of volunteer blood donors potentially implicates the gene encoding neuropeptide VF.Transfusion · 2026Article
- Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis.BMC genomics · 2026Article
- Causal Association Between Transferrin Saturation and Periodontitis: A Mendelian Randomization Study.Oral health & preventive dentistry · 2026Article
- Association of air pollution with chronic obstructive pulmonary disease: anemia-related outcomes and exploratory genetic susceptibility analyses.Frontiers in medicine · 2026Article
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Bidirectional Mendelian Randomization analysis of iron status and uremia: no evidence of a causal relationship.Renal failure · 2025Article
- Iron status and risk of aneurysmal subarachnoid hemorrhage: evidence from a two-sample Mendelian randomization.Neurosurgical review · 2025Article
- A structural deletion in the 3'UTR of SLC11A2 is associated with altered iron status: Evidence from two large Danish cohorts.British journal of haematology · 2025Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
62 authors at 12 institutions in 5 countries.
Steven Bell *The National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6774-3149
Andreas S Rigas *Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Magnus K Magnusson *deCODE genetics/Amgen Inc., Reykjavik, Iceland. magnus.magnusson@decode.is.ORCID 0000-0001-8593-4934
Egil Ferkingstad *deCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8090-7988
Elias Allara *The National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0002-1634-8330
Gyda BjornsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Anna RamondThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Erik SørensenDepartment of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Gisli H HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-7067-9862
Dirk S PaulThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0002-8230-0116
Kristoffer S BurgdorfDepartment of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Hannes P EggertssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-1674-9978
Joanna M M HowsonBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7618-0050
Lise W ThørnerDepartment of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Snaedis KristmundsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
William J AstleThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-6551-6647
Jon K SigurdssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Dragana VuckovicThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Khoa M DinhDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-8223-8957
Praveen SurendranBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Ole B PedersenDepartment of Clinical Immunology, Næstved Hospital, Næstved, Denmark.ORCID 0000-0003-2312-5976
Brynjar VidarssonThe Laboratory in Mjodd, RAM, Reykjavik, Iceland.
Tao JiangThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Helene M PaarupDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.ORCID 0000-0003-1281-1567
Pall T OnundarsonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Parsa AkbariThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0001-9210-4760
Kaspar R NielsenDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
Sigrun H LunddeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-3806-2296
Kristinn JuliussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Magnus I MagnussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Michael L FriggedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-2984-535X
Asmundur OddssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-4606-5163
Isleifur OlafssonDepartment of Clinical Biochemistry, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
Stephen KaptogeThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Henrik HjalgrimDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Gudmundur RunarssonThe Laboratory in Mjodd, RAM, Reykjavik, Iceland.
Angela M WoodThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Ingileif JonsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8339-150X
Thomas F HansenDanish Headache Center, Department of Neurology, Rigshospitalet-Glostrup, Glostrup, Denmark.ORCID 0000-0001-6703-7762
Olof SigurdardottirDepartment of Clinical Biochemistry, Akureyri Hospital, Akureyri, Iceland.
Hreinn StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-9331-6666
David RyeDepartment of Neurology and Program in Sleep, Emory University School of Medicine, Atlanta, GA, USA.
DBDS Genomic Consortium
James E PetersBritish Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
David WestergaardTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-0128-8432
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-9517-6636
Nicole SoranzoThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0003-1095-3852
Karina BanasikTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-2489-2499
Gudmar ThorleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Willem H OuwehandThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0002-7744-1790
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
David J RobertsThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-7123-6123
Adam S ButterworthThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.ORCID 0000-0002-6915-9015
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-5222-9857
John DaneshThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK.
Søren BrunakTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-0316-5866
Emanuele Di AngelantonioThe National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge, University of Cambridge, Cambridge, UK. ed303@medschl.cam.ac.uk.
Henrik UllumDepartment of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark. Henrik.Ullum@regionh.dk.
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. kstefans@decode.is.ORCID 0000-0003-1676-864X
deCODE Genetics (Iceland) · ISUniversity of Cambridge · GBUniversity of Copenhagen · DKCopenhagen University Hospital · DKNational Health Service · GBAalborg University Hospital · DKEmory University · USStatens Serum Institut · DKUniversity of Iceland · ISAarhus University Hospital · DKNæstved Sygehus · DKNHS Blood and Transplant · GB
Funding
British Heart Foundation CH/12/2/29428British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946British Heart Foundation SP/09/002Department of HealthMedical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/L003120/1Medical Research Council MR/S003746/1Wellcome Trust
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.
Indexed as
Anemia, Iron-DeficiencyGenetic LociGenetic VariationIronIron OverloadBiomarkersDenmarkFerritinsGenome-Wide Association StudyGenotypeHomeostasisHumansIcelandPhenotypeRisk AssessmentRisk FactorsBiomarkersFerritinsIronTransferrin
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What Socratic holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.