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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.* ; 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.C.* ; Madden, P.A.* ; Visscher, P.M.* ; Wright, M.J.* ; Montgomery, G.W.* ; Martin, N.G.* ; Hernandez, D.* ; Bandinelli, S.* ; van der Harst, P.* ; Uda, M.* ; Vollenweider, P.* ; Scott, R.A.* ; Langenberg, C.* ; Wareham, N.J.* ; van Duijn, C.M.* ; Beilby, J.* ; Pramstaller, P.P.* ; Hicks, A.A.* ; Ouwehand, W.H.* ; Oexle, K.* ; Gieger, C. ; Metspalu, A.* ; Camaschella, C.* ; Toniolo, D.* ; Swinkels, D.W.* ; Whitfield, J.B.*

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

Nat. Commun. 5:4926 (2014)
Verlagsversion DOI
Open Access Gold
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Genome-wide Association; Transferrin Receptor 2; Hfe Hereditary Hemochromatosis; Coronary-artery-disease; Foam Cell-formation; Circadian-rhythm; Genetic-variants; Common Variants; Total Mortality; Ferritin Levels
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 5, Heft: , Seiten: , Artikelnummer: 4926 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed