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

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; Fiedler, G Martin; Thiery, Joachim; Rudan, Igor; Wright, Alan F; Campbell, Harry; Ferrucci, Luigi; ... (2011). Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Human molecular genetics, 20(5), pp. 1042-7. Oxford: Oxford University Press 10.1093/hmg/ddq538

Full text not available from this repository. (Request a copy)

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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry

UniBE Contributor:

Fiedler, Martin

ISSN:

0964-6906

Publisher:

Oxford University Press

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:22

Last Modified:

17 Mar 2015 21:00

Publisher DOI:

10.1093/hmg/ddq538

PubMed ID:

21149283

Web of Science ID:

000286993500018

URI:

https://boris.unibe.ch/id/eprint/7573 (FactScience: 212867)

Actions (login required)

Edit item Edit item
Provide Feedback