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

Nat Genet. 2009 Nov;41(11):1173-5. doi: 10.1038/ng.456. Epub 2009 Oct 11.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 22
  • Erythrocyte Volume*
  • Erythrocytes / cytology*
  • Erythrocytes / metabolism*
  • Genome-Wide Association Study
  • Homeostasis*
  • Humans
  • Iron / blood*
  • Membrane Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Serine Endopeptidases / genetics*
  • Transferrin / metabolism

Substances

  • Membrane Proteins
  • Transferrin
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human