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

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Title: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Authors: Benyamin, Beben, Esko, Tonu, Ried, Janina S, Radhakrishnan, Aparna, Vermeulen, Sita H, Traglia, Michela, Gögele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jian'an, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm-Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Hälldin, Jonas, Häldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer, Kiemeney, Lambertus A, Sweep, Fred C, Sala, Cinzia F, Schwienbacher, Christine, Pichler, Irene, Hui, Jennie, Demirkan, Ayse, Isaacs, Aaron, Amin, Najaf, Steri, Maristella, Waeber, Gérard, Verweij, Niek, Powell, Joseph E, Nyholt, Dale R, Heath, Andrew C, Madden, Pamela A F, Visscher, Peter M, Wright, Margaret J, Montgomery, Grant W, Martin, Nicholas G, Whitfield, John B
Source: Benyamin, B, Esko, T, Ried, J S, Radhakrishnan, A, Vermeulen, S H, Traglia, M, Gögele, M, Anderson, D, Broer, L, Podmore, C, Luan, J, Kutalik, Z, Sanna, S, van der Meer, P, Tanaka, T, Wang, F, Westra, H-J, Franke, L, Mihailov, E, Milani, L, Hälldin, J, Häldin, J, Winkelmann, J, Meitinger, T, Thiery, J, Peters, A, Waldenberger, M, Rendon, A, Jolley, J, Sambrook, J, Kiemeney, L A, Sweep, F C, Sala, C F, Schwienbacher, C, Pichler, I, Hui, J, Demirkan, A, Isaacs, A, Amin, N, Steri, M, Waeber, G, Verweij, N, Powell, J E, Nyholt, D R, Heath, A ....
Publication Year: 2014
Collection: Maastricht University Research Publications
Subject Terms: Adult, Chromosomes, Human, Pair 7/genetics, Ferritins/metabolism, Gene Expression Regulation, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Hemochromatosis/blood, Homeostasis/genetics, Humans, Iron/blood, Lipids/blood, Phenotype, Polymorphism, Single Nucleotide/genetics, Reproducibility of Results, Risk Factors, Transferrin/metabolism
Description: 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.
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/pmid/25352340; info:eu-repo/semantics/altIdentifier/wos/000343934300001; info:eu-repo/semantics/altIdentifier/pissn/2041-1723; info:eu-repo/semantics/reference/pmid/25817829; info:eu-repo/semantics/reference/wos/000352720000032
DOI: 10.1038/ncomms5926
Availability: https://cris.maastrichtuniversity.nl/en/publications/12007ecf-0a6e-431b-afce-417c99e86f76
https://doi.org/10.1038/ncomms5926
https://www.scopus.com/pages/publications/84923272209
https://repository.ubn.ru.nl//bitstream/handle/2066/137523/137523.pdf
Rights: info:eu-repo/semantics/openAccess
Accession Number: edsbas.2D84EFBC
Database: BASE
Description
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.
DOI:10.1038/ncomms5926