Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
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| Názov: | Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis |
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| Autori: | 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 |
| Zdroj: | 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 .... |
| Rok vydania: | 2014 |
| Zbierka: | Maastricht University Research Publications |
| Predmety: | 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 |
| Popis: | 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. |
| Druh dokumentu: | article in journal/newspaper |
| Jazyk: | 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 |
| Dostupnosť: | 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 |
| Prístupové číslo: | edsbas.2D84EFBC |
| Databáza: | BASE |
Nájsť tento článok vo Web of Science | Abstrakt: | 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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| DOI: | 10.1038/ncomms5926 |