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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 publication




Journal article


Nature communications

Publication Date





1] The University of Queensland, Queensland Brain Institute, Brisbane, Queensland 4072, Australia [2] QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4029, Australia.


InterAct Consortium, Chromosomes, Human, Pair 7, Humans, Hemochromatosis, Genetic Predisposition to Disease, Iron, Lipids, Transferrin, Risk Factors, Reproducibility of Results, Gene Expression Regulation, Homeostasis, Phenotype, Polymorphism, Single Nucleotide, Adult, Ferritins, Genetic Loci, Genetic Association Studies