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

Beben Benyamin, Manuel A.R. Ferreira, Gonneke Willemsen, Scott Gordon, Rita P.S. Middelberg, Brian P. McEvoy, Jouke Jan Hottenga, Anjali K. Henders, Megan J. Campbell, Leanne Wallace, Ian H. Frazer, Andrew C. Heath, Eco J.C. De Geus, Dale R. Nyholt, Peter M. Visscher, Brenda W. Penninx, Dorret I. Boomsma, Nicholas G. Martin, Grant W. Montgomery, John B. Whitfield

Research output: Contribution to journalArticlepeer-review

180 Scopus citations

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 × 10 20), transferrin saturation (combined P = 2.2 × 10 23) and erythrocyte mean cell volume (MCV, combined P = 1.1 × 10 10). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 × 10 7). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis.

Original languageEnglish
Pages (from-to)1173-1175
Number of pages3
JournalNature Genetics
Volume41
Issue number11
DOIs
StatePublished - Nov 2009

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