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Nature Research, Nature Genetics, 11(41), p. 1173-1175, 2009

DOI: 10.1038/ng.456

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

Journal article published in 2009 by Beben Benyamin, Manuel A. R. Ferreira, Gonneke Willemsen, Scott Gordon, Rita P. S. Middelberg, Brian P. McEvoy, Jouke-Jan Hottenga, Anjali K. Henders ORCID, Megan J. Campbell, Leanne Wallace, Ian H. Frazer, Andrew C. Heath, Eco J. C. de Geus, Dale R. Nyholt ORCID, Peter M. Visscher and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.