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 MilaniJonas 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

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179 Scopus citations


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.

Original languageEnglish
Article number4926
JournalNature communications
StatePublished - 2014


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