Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

Benyamin, B., Ferreira, M. A., Willemsen, G., Gordon, S., Middelberg, R. P., McEvoy, B. P., Hottenga, J. J., Henders, A. K., Campbell, M. J., Wallace, L., Frazer, I. H., Heath, A. C., de Geus, E. J., Nyholt, D.R., Visscher, P. M., Penninx, B. W., Boomsma, D. I., Martin, N. G., Montgomery, G. W., & Whitfield, J. B. (2009) Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nature Genetics, 41(11), pp. 1173-5.

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Abstract

We report a genome-wide association study to iron status. We identify an association of SNPs in TPMRSS6 to serum iron (rs855791, combined P = 1.5 x 10(-20)), transferrin saturation (combined P = 2.2 x 10(-23)) and erythrocyte mean cell volume (MCV, combined P = 1.1 x 10(-10)). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 x 10(-7)). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis.

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ID Code: 92010
Item Type: Journal Article
Refereed: Yes
Additional Information: Benyamin, Beben
Ferreira, Manuel A R
Willemsen, Gonneke
Gordon, Scott
Middelberg, Rita P S
McEvoy, Brian P
Hottenga, Jouke-Jan
Henders, Anjali K
Campbell, Megan J
Wallace, Leanne
Frazer, Ian H
Heath, Andrew C
de Geus, Eco J C
Nyholt, Dale R
Visscher, Peter M
Penninx, Brenda W
Boomsma, Dorret I
Martin, Nicholas G
Montgomery, Grant W
Whitfield, John B
eng
AA014041/AA/NIAAA NIH HHS/
AA07535/AA/NIAAA NIH HHS/
AA10248/AA/NIAAA NIH HHS/
MH081802/MH/NIMH NIH HHS/
R01 AA007535/AA/NIAAA NIH HHS/
R01 AA007535-08/AA/NIAAA NIH HHS/
R01 AA010249/AA/NIAAA NIH HHS/
R01 AA010249-04/AA/NIAAA NIH HHS/
R01 AA014041-01A1/AA/NIAAA NIH HHS/
R01 MH059160/MH/NIMH NIH HHS/
R01 MH059160-04/MH/NIMH NIH HHS/
R01 MH081802/MH/NIMH NIH HHS/
R01 MH081802-01/MH/NIMH NIH HHS/
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
2009/10/13 06:00
Nat Genet. 2009 Nov;41(11):1173-5. doi: 10.1038/ng.456. Epub 2009 Oct 11.
Keywords: Chromosomes, Human, Pair 22, *Erythrocyte Volume, Erythrocytes/*cytology/*metabolism, Genome-Wide Association Study, *Homeostasis, Humans, Iron/*blood, Membrane Proteins/*genetics, *Polymorphism, Single Nucleotide, Serine Endopeptidases/*genetics, Transferrin/metabolism
DOI: 10.1038/ng.456
ISSN: 1061-4036
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2009 Nature America Inc.
Deposited On: 19 Jan 2016 02:26
Last Modified: 20 Jan 2016 05:44

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