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Oexle, K.* ; Ried, J.S. ; Hicks, A.A.* ; Tanaka, T.* ; Hayward, C.* ; Bruegel, M.* ; Gögele, M.* ; Lichtner, P. ; Müller-Myhsok, B.* ; Döring, A. ; Illig, T. ; Schwienbacher, C.* ; Minelli, C.* ; Pichler, I.* ; Fiedler, G.M.* ; Thiery, J.* ; Rudan, I.* ; Wright, A.F.* ; Campbell, H.* ; Ferrucci, L.* ; Bandinelli, S.* ; Pramstaller, P.P.* ; Wichmann, H.-E. ; Gieger, C. ; Winkelmann, J.* ; Meitinger, T.

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

Hum. Mol. Genet. 20, 1042-1047 (2011)
Verlagsversion Forschungsdaten DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
The level of body iron storage and the erythropoietic need for iron are indicated by the serum levels of ferritin and soluble transferrin receptor (sTfR), respectively. A meta-analysis of five genome-wide association studies on sTfR and ferritin revealed novel association to the PCSK7 and TMPRSS6 loci for sTfR and the HFE locus for both parameters. The PCSK7 association was the most significant (rs236918, P = 1.1 × 10E-27) suggesting that proprotein convertase 7, the gene product of PCSK7, may be involved in sTfR generation and/or iron homeostasis. Conditioning the sTfR analyses on transferrin saturation abolished the HFE signal and substantially diminished the TMPRSS6 signal while the PCSK7 association was unaffected, suggesting that the former may be mediated by transferrin saturation whereas the PCSK7-associated effect on sTfR generation appears to be more direct.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Genome-wide association; Iron homeostasis; Common variants; TMPRSS6; Hemojuvelin; Hemochromatosis; Metabolism; Consortium; Mutations; Overload
Sprache englisch
Veröffentlichungsjahr 2011
HGF-Berichtsjahr 2011
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Zeitschrift Human Molecular Genetics
Quellenangaben Band: 20, Heft: 5, Seiten: 1042-1047 Artikelnummer: , Supplement: ,
Verlag Oxford University Press
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Research Unit Molecular Epidemiology (AME)
Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
G-504200-003
G-504100-001
PubMed ID 21149283
DOI 10.1093/hmg/ddq538
Scopus ID 79551586854
Erfassungsdatum 2011-05-30
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