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
  • *Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

218 Citations (Scopus)

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
Publication statusPublished - 11 Oct 2009
Externally publishedYes

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