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

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 eleven European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We fi...

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Detalles Bibliográficos
Autores principales: 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, 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 AF, Visscher, Peter M, Wright, Margaret J, Montgomery, Grant W, Martin, Nicholas G, Hernandez, Dena, Bandinelli, Stefania, van der Harst, Pim, Uda, Manuela, Vollenweider, Peter, Scott, Robert A, Langenberg, Claudia, Wareham, Nicholas J, van Duijn, Cornelia, Beilby, John, Pramstaller, Peter P, Hicks, Andrew A, Ouwehand, Willem H, Oexle, Konrad, Gieger, Christian, Metspalu, Andres, Camaschella, Clara, Toniolo, Daniela, Swinkels, Dorine W, Whitfield, John B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215164/
https://www.ncbi.nlm.nih.gov/pubmed/25352340
http://dx.doi.org/10.1038/ncomms5926
Descripción
Sumario: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 eleven European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find eleven 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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