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

DOI
Publisher DOI
PubMed ID
21149283
Abstract
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.
Date Issued
2011
Publication Type
Article
Language(s)
en
Author(s)
Oexle, Konrad
Ried, Janina S
Hicks, Andrew A
Tanaka, Toshiko
Hayward, Caroline
Bruegel, Mathias
Gögele, Martin
Lichtner, Peter
Müller-Myhsok, Bertram
Döring, Angela
Illig, Thomas
Schwienbacher, Christine
Minelli, Cosetta
Pichler, Irene
Thiery, Joachim
Rudan, Igor
Wright, Alan F
Campbell, Harry
Ferrucci, Luigi
Bandinelli, Stefania
Pramstaller, Peter P
Wichmann, H-Erich
Gieger, Christian
Winkelmann, Juliane
Meitinger, Thomas
Additional Credits
Journal
Human molecular genetics
Publisher
Oxford University Press
ISSN
0964-6906
Access(Rights)
open.access
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