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

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. © 2009 Nature America, Inc. All rights reserved.