Evidence map›Paper›PMID 25352340›Full record

ArticleNature communications2014

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Beben Benyamin, Tonu Esko, Janina S Ried, Aparna Radhakrishnan, Sita H Vermeulen, Michela Traglia, Martin Gögele, Denise Anderson, Linda Broer, Clara Podmore and 61 more

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 158 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
158citing papers in PubMed, 12 pooled it
0.8field-weighted citation impact, top 29% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

158 citing papers in PubMed, 12 syntheses or guidelines pooled it, 31 citations in OpenAlex.

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  13. Trial
  14. Article
  15. Functional Iron-Transport Genes-International journal of molecular sciences · 2026
    Article
  16. Relationship of Genetic Variability (Health science reports · 2026
    Article
  17. Article
  18. Article
  19. Article
  20. Article

98 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

71 authors at 8 institutions in 5 countries.

Beben Benyamin1] The University of Queensland, Queensland Brain Institute, Brisbane, Queensland 4072, Australia [2] QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
Tonu Esko1] Estonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia [2] The Broad Institute of Massachusetts Institute of Technology and Harvard University, 320 Charles St, Cambridge, Massachusetts 02141, USA.
Janina S RiedInstitute of Genetic Epidemiology, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
Aparna RadhakrishnanDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus Box 139, Hills Road, Cambridge CB2 0XY, UK.
Sita H Vermeulen1] Department for Health Evidence, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525GA Nijmegen, The Netherlands [2] Department of Genetics, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525 GA, Nijmegen, The Netherlands.
Michela Traglia1] Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy [2] Institute for Maternal and Child Health-IRCCS ''Burlo Garofolo''- Trieste, 34137 Trieste, Italy.
Martin GögeleCenter for Biomedicine, European Academy of Bolzano/Bozen (EURAC), Via Galvani 31, 39100 Bolzano, Italy.
Denise AndersonTelethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, Western Australia 6872, Australia.
Linda Broer1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Internal Medicine, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands.
Clara PodmoreMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Zoltan Kutalik1] Institute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Rte de la Corniche 10, 1010 Lausanne, Switzerland [2] Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
Serena SannaIstituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Monserrato, 09042 Cagliari, Italy.
Peter van der MeerUniversity of Groningen, University Medical Center Groningen, Department of Cardiology, 9700 RB Groningen, The Netherlands.
Toshiko TanakaTranslational Gerontology Branch, National Institute on Aging, 251 Bayview Boulevard, Suite 100, Baltimore, Maryland 21224-6825, USA.
Fudi WangSchool of Public Health, Zhejiang University, Hangzhou 310058, P. R. China.
Harm-Jan WestraDepartment of Genetics, University Medical Center Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands.
Lude FrankeDepartment of Genetics, University Medical Center Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands.
Evelin Mihailov1] Estonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia [2] Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia.
Lili MilaniEstonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia.
Jonas HälldinEstonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia.
Jonas HäldinEstonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia.
Juliane Winkelmann1] Department of Neurology and Neurosciences and Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, California 94304, USA [2] Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany [3] Institut für Humangenetik, Helmholtz Zentrum München, 85764 Neuherberg, Germany [4] Munich Cluster for Systems Neurology (SyNergy), 81675 Munich, Germany.
Thomas Meitinger1] Institut für Humangenetik, Helmholtz Zentrum München, 85764 Neuherberg, Germany [2] Institute of Human Genetics, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675 München, Germany.
Joachim Thiery1] Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, Universitätsklinikum Leipzig, Liebigstraße 27, 04103 Leipzig, Germany [2] LIFE Research Center for Civilization Diseases, Medical Faculty, University Leipzig, Philipp-Rosenthal-Straße 27, 04103 Leipzig, Germany.
Annette Peters1] Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany [2] Research Unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
Melanie Waldenberger1] Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany [2] Research Unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
Augusto Rendon1] Department of Haematology, University of Cambridge, Cambridge Biomedical Campus Box 139, Hills Road, Cambridge CB2 0XY, UK [2] NHS Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK [3] Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.
Jennifer Jolley1] Department of Haematology, University of Cambridge, Cambridge Biomedical Campus Box 139, Hills Road, Cambridge CB2 0XY, UK [2] NHS Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK.
Jennifer Sambrook1] Department of Haematology, University of Cambridge, Cambridge Biomedical Campus Box 139, Hills Road, Cambridge CB2 0XY, UK [2] NHS Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK.
Lambertus A Kiemeney1] Department for Health Evidence, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525GA Nijmegen, The Netherlands [2] Department of Urology, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525GA Nijmegen, The Netherlands.
Fred C SweepLaboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525 GA Nijmegen, The Netherlands.
Cinzia F SalaDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy.
Christine SchwienbacherCenter for Biomedicine, European Academy of Bolzano/Bozen (EURAC), Via Galvani 31, 39100 Bolzano, Italy.
Irene PichlerCenter for Biomedicine, European Academy of Bolzano/Bozen (EURAC), Via Galvani 31, 39100 Bolzano, Italy.
Jennie Hui1] PathWest Laboratory Medicine of WA, Nedlands, Western Australia 6009, Australia [2] Schools of Pathology and Laboratory Medicine, and Population Health, The University of Western Australia, Nedlands, Western Australia 6009, Australia.
Ayse Demirkan1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Aaron Isaacs1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Center of Medical Systems Biology, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.
Najaf AminDepartment of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands.
Maristella SteriIstituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Monserrato, 09042 Cagliari, Italy.
Gérard WaeberDepartment of Medicine, Internal Medicine, CHUV, University of Lausanne, Rue du Bugnon 46, 1011 Lausanne, Switzerland.
Niek VerweijUniversity of Groningen, University Medical Center Groningen, Department of Cardiology, 9700 RB Groningen, The Netherlands.
Joseph E Powell1] The University of Queensland, Queensland Brain Institute, Brisbane, Queensland 4072, Australia [2] University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia.
Dale R NyholtQIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
Andrew C HeathDepartment of Psychiatry, Washington University, 660S Euclid Avenue, St. Louis, Missouri 63110, USA.
Pamela A F MaddenDepartment of Psychiatry, Washington University, 660S Euclid Avenue, St. Louis, Missouri 63110, USA.
Peter M Visscher1] The University of Queensland, Queensland Brain Institute, Brisbane, Queensland 4072, Australia [2] University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia.
Margaret J WrightQIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
Grant W MontgomeryQIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
Dena HernandezLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland 20892, USA.
Stefania BandinelliGeriatric Unit, Azienda Sanitaria Firenze (ASF), Via delle Casine, 16, 50122 Firenze, Italy.
Pim van der Harst1] University of Groningen, University Medical Center Groningen, Department of Cardiology, 9700 RB Groningen, The Netherlands [2] Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, 3511 GC Utrecht, The Netherlands [3] University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, The Netherlands.
Manuela UdaIstituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Monserrato, 09042 Cagliari, Italy.
Peter VollenweiderDepartment of Medicine, Internal Medicine, CHUV, University of Lausanne, Rue du Bugnon 46, 1011 Lausanne, Switzerland.
Robert A ScottMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
InterAct Consortium
Cornelia van Duijn1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Center of Medical Systems Biology, Einthovenweg 20, 2333 ZC Leiden, The Netherlands [3] Member of Netherlands Consortium for Healthy Aging sponsored by Netherlands Genomics Initiative, Postbus 9600, 2300 RC Leiden, The Netherlands.
John Beilby1] PathWest Laboratory Medicine of WA, Nedlands, Western Australia 6009, Australia [2] Schools of Pathology and Laboratory Medicine, and Population Health, The University of Western Australia, Nedlands, Western Australia 6009, Australia.
Peter P Pramstaller1] Center for Biomedicine, European Academy of Bolzano/Bozen (EURAC), Via Galvani 31, 39100 Bolzano, Italy [2] Department of Neurology, General Central Hospital, Lorenz-Böhler-Straße, 5, 39100 Bolzano, Italy.
Andrew A HicksCenter for Biomedicine, European Academy of Bolzano/Bozen (EURAC), Via Galvani 31, 39100 Bolzano, Italy.
Willem H Ouwehand1] Department of Haematology, University of Cambridge, Cambridge Biomedical Campus Box 139, Hills Road, Cambridge CB2 0XY, UK [2] NHS Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK.
Konrad OexleInstitute of Human Genetics, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675 München, Germany.
Christian Gieger1] Institute of Genetic Epidemiology, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany [2] Institute of Epidemiology II, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany [3] Research Unit of Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
Andres MetspaluEstonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia.
Clara Camaschella1] Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy [2] Vita-Salute University, 20132 Milan, Italy.
Daniela TonioloDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy.
Dorine W SwinkelsLaboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein-Zuid 10, 6525 GA Nijmegen, The Netherlands.
John B WhitfieldQIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.
QIMR Berghofer Medical Research Institute · AUInstitute of Genetic and Biomedical Research · ITMRC Epidemiology Unit · GBUniversity of Tartu · EEUniversity of Cambridge · GBThe Kids Research Institute Australia · AUUniversity Medical Center Groningen · NLUniversity of Groningen · NL

Funding

Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
VARIATION IN THE EFFECTS OF ALCOHOL ON LIVER FUNCTIONR01AA014041 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WHITFIELD, JOHN B · 2003 to 2007
$2.1M
British Heart Foundation RG/09/012/28096Department of Health RP-PG-0310-1002Medical Research Council MC_U106179471Medical Research Council MC_UU_12015/1NIAAA NIH HHS R01 AA014041NIBIB NIH HHS U54 EB020403
6 · The paper itself

Abstract

Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.

Indexed as

Genetic LociGenetic Predisposition to DiseaseAdultChromosomes, Human, Pair 7FerritinsGene Expression RegulationGenetic Association StudiesHemochromatosisHomeostasisHumansIronLipidsPhenotypePolymorphism, Single NucleotideReproducibility of ResultsRisk FactorsFerritinsIronLipidsTransferrin

Identifiers

PMID25352340
PMCPMC4215164
OpenAlexW1498265623

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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 OpenQuestion graph.