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 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.
Benyamin
Beben
B
Queensland Institute of Medical Research, Brisbane, Queensland, Australia. bebenB@qimr.edu.au
Ferreira
Manuel A R
MA
Willemsen
Gonneke
G
Gordon
Scott
S
Middelberg
Rita P S
RP
McEvoy
Brian P
BP
Hottenga
Jouke-Jan
JJ
Henders
Anjali K
AK
Campbell
Megan J
MJ
Wallace
Leanne
L
Frazer
Ian H
IH
Heath
Andrew C
AC
de Geus
Eco J C
EJ
Nyholt
Dale R
DR
Visscher
Peter M
PM
Penninx
Brenda W
BW
Boomsma
Dorret I
DI
Martin
Nicholas G
NG
Montgomery
Grant W
GW
Whitfield
John B
JB
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
D008565:Membrane Proteins; D014168:Transferrin; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human