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; Jian'an Luan; Zoltan Kutalik; Serena Sanna; Peter van der Meer; Toshiko Tanaka; Fudi Wang; Harm-Jan Westra; Lude Franke; Evelin Mihailov; Lili Milani; Jonas Hälldin; Jonas Häldin; Juliane Winkelmann; Thomas Meitinger; Joachim Thiery; Annette Peters; Melanie Waldenberger; Augusto Rendon; Jennifer Jolley; Jennifer Sambrook; Lambertus A Kiemeney; Fred C Sweep; Cinzia F Sala; Christine Schwienbacher; Irene Pichler; Jennie Hui; Ayse Demirkan; Aaron Isaacs; Najaf Amin; Maristella Steri; Gérard Waeber; Niek Verweij; Joseph E Powell; Dale R Nyholt; Andrew C Heath; Pamela A F Madden; Peter M Visscher; Margaret J Wright; Grant W Montgomery; Nicholas G Martin; Dena Hernandez; Stefania Bandinelli; Pim van der Harst; Manuela Uda; Peter Vollenweider; Robert A Scott; Claudia Langenberg; Nicholas J Wareham; Cornelia van Duijn; John Beilby; Peter P Pramstaller; Andrew A Hicks; Willem H Ouwehand; Konrad Oexle; Christian Gieger; Andres Metspalu; Clara Camaschella; Daniela Toniolo; Dorine W Swinkels; John B Whitfield; InterAct Consortium

doi:10.1038/ncomms5926

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

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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, …

Nature communications, Vol.5(1), pp.4926-4926

29/10/2014

DOI: https://doi.org/10.1038/ncomms5926

PMID: 25352340

Abstract

Adult

Chromosomes, Human, Pair 7 - genetics

Ferritins - metabolism

Gene Expression Regulation

Genetic Association Studies

Genetic Loci

Genetic Predisposition to Disease

Hemochromatosis - blood

Hemochromatosis - genetics

Homeostasis - genetics

Humans

Iron - blood

Iron - metabolism

Lipids - blood

Phenotype

Polymorphism, Single Nucleotide - genetics

Reproducibility of Results

Risk Factors

Transferrin - metabolism

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.

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Title: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Creators: Beben Benyamin - University of Queensland
Tonu Esko - University of Tartu
Janina S Ried - Helmholtz Zentrum München
Aparna Radhakrishnan - University of Cambridge
Sita H Vermeulen - Radboud University Nijmegen
Michela Traglia - 1] Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy Institute for Maternal and Child Health-IRCCS ''Burlo Garofolo''- Trieste, 34137 Trieste, Italy
Martin Gögele - Eurac Research
Denise Anderson - The Kids Research Institute Australia
Linda Broer - 1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands Department of Internal Medicine, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands
Clara Podmore - MRC Epidemiology Unit
Jian'an Luan - University of Cambridge
Zoltan Kutalik - Institute of Social and Preventive Medicine
Serena Sanna - Institute of Genetic and Biomedical Research
Peter van der Meer - University Medical Center Groningen
Toshiko Tanaka - National Institute on Aging
Fudi Wang - Zhejiang University
Harm-Jan Westra - University Medical Center Groningen
Lude Franke - University Medical Center Groningen
Evelin Mihailov - University of Tartu
Lili Milani - University of Tartu
Jonas Hälldin - University of Tartu
Jonas Häldin - University of Tartu
Juliane Winkelmann - Stanford University
Thomas Meitinger - Helmholtz Zentrum München
Joachim Thiery - University Hospital Leipzig
Annette Peters - Helmholtz Zentrum München
Melanie Waldenberger - Helmholtz Zentrum München
Augusto Rendon - University of Cambridge
Jennifer Jolley - University of Cambridge
Jennifer Sambrook - University of Cambridge
Lambertus A Kiemeney - Radboud University Medical Center
Fred C Sweep - Laboratory 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 Sala - Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy
Christine Schwienbacher - Eurac Research
Irene Pichler - Eurac Research
Jennie Hui - Pathwest Laboratory Medicine
Ayse Demirkan - Leiden University Medical Center
Aaron Isaacs - 1] Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands Center of Medical Systems Biology, Einthovenweg 20, 2333 ZC Leiden, The Netherlands
Najaf Amin - Department of Epidemiology, Subdivision Genetic Epidemiology, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands
Maristella Steri - Institute of Genetic and Biomedical Research
Gérard Waeber - University of Lausanne
Niek Verweij - University of Groningen
Joseph E Powell - University of Queensland
Dale R Nyholt - QIMR Berghofer Medical Research Institute
Andrew C Heath - Washington University in St. Louis
Pamela A F Madden - Washington University in St. Louis
Peter M Visscher - University of Queensland
Margaret J Wright - QIMR Berghofer Medical Research Institute
Grant W Montgomery - QIMR Berghofer Medical Research Institute
Nicholas G Martin - QIMR Berghofer Medical Research Institute
Dena Hernandez - National Institute on Aging
Stefania Bandinelli - Azienda Sanitaria di Firenze
Pim van der Harst - University Medical Center Groningen
Manuela Uda - Institute of Genetic and Biomedical Research
Peter Vollenweider - University of Lausanne
Robert A Scott - University of Cambridge
Claudia Langenberg - University of Cambridge
Nicholas J Wareham - MRC Epidemiology Unit
Cornelia van Duijn - Genomics
John Beilby - Pathwest Laboratory Medicine
Peter P Pramstaller - Eurac Research
Andrew A Hicks - Eurac Research
Willem H Ouwehand - NHS Blood and Transplant
Konrad Oexle - Technical University of Munich
Christian Gieger - Helmholtz Zentrum München
Andres Metspalu - University of Tartu
Clara Camaschella - Vita-Salute San Raffaele University
Daniela Toniolo - Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milano, Italy
Dorine W Swinkels - Radboud University Medical Center
John B Whitfield - QIMR Berghofer Medical Research Institute
InterAct Consortium
Publication Details: Nature communications, Vol.5(1), pp.4926-4926
Date published: 29/10/2014
Grant note: R01 AA014041 / NIAAA NIH HHS MC_UU_12015/1 / Medical Research Council U54 EB020403 / NIBIB NIH HHS RP-PG-0310-1002 / Department of Health RG/09/012/28096 / British Heart Foundation MC_U106179471 / Medical Research Council
Identifiers: 99929029102346
Academic Unit: Institute for Sustainability; Surrey Institute for People-Centred AI; School of Biosciences
Language: English
Resource Type: Journal article

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

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