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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)
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide association; Iron homeostasis; Common variants; TMPRSS6; Hemojuvelin; Hemochromatosis; Metabolism; Consortium; Mutations; Overload
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Quellenangaben Volume: 20, Issue: 5, Pages: 1042-1047 Article Number: , Supplement: ,
Publisher Oxford University Press
Reviewing status Peer reviewed