title: Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
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.
authors.affiliation: Queensland Institute of Medical Research, Brisbane, Queensland, Australia. bebenB@qimr.edu.au
authors.forename: Beben
authors.initials: B
authors.lastname: Benyamin
authors.forename: Manuel A R
authors.initials: MA
authors.lastname: Ferreira
authors.forename: Gonneke
authors.initials: G
authors.lastname: Willemsen
authors.forename: Scott
authors.initials: S
authors.lastname: Gordon
authors.forename: Rita P S
authors.initials: RP
authors.lastname: Middelberg
authors.forename: Brian P
authors.initials: BP
authors.lastname: McEvoy
authors.forename: Jouke-Jan
authors.initials: JJ
authors.lastname: Hottenga
authors.forename: Anjali K
authors.initials: AK
authors.lastname: Henders
authors.forename: Megan J
authors.initials: MJ
authors.lastname: Campbell
authors.forename: Leanne
authors.initials: L
authors.lastname: Wallace
authors.forename: Ian H
authors.initials: IH
authors.lastname: Frazer
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Heath
authors.forename: Eco J C
authors.initials: EJ
authors.lastname: de Geus
authors.forename: Dale R
authors.initials: DR
authors.lastname: Nyholt
authors.forename: Peter M
authors.initials: PM
authors.lastname: Visscher
authors.forename: Brenda W
authors.initials: BW
authors.lastname: Penninx
authors.forename: Dorret I
authors.initials: DI
authors.lastname: Boomsma
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.forename: John B
authors.initials: JB
authors.lastname: Whitfield
mesh_terms: D002892:Chromosomes, Human, Pair 22; D004911:Erythrocyte Volume; D004912:Erythrocytes / Q000166:cytology* / Q000378:metabolism*; D055106:Genome-Wide Association Study; D006706:Homeostasis; D006801:Humans; D007501:Iron / Q000097:blood*; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012697:Serine Endopeptidases / Q000235:genetics*; D014168:Transferrin / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D014168:Transferrin; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human