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    Nat Genet. 2009 Nov;41(11):1173-5. Epub 2009 Oct 11.

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

    Benyamin B, Ferreira MA, Willemsen G, Gordon S, Middelberg RP, McEvoy BP, Hottenga JJ, Henders AK, Campbell MJ, Wallace L, Frazer IH, Heath AC, de Geus EJ, Nyholt DR, Visscher PM, Penninx BW, Boomsma DI, Martin NG, Montgomery GW, Whitfield JB.

    Queensland Institute of Medical Research, Brisbane, Queensland, Australia. bebenB@qimr.edu.au

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    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.

    PMID: 19820699 [PubMed - in process]

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