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

被引：199

作者：

Benyamin, Beben ^{[1
]}

Ferreira, Manuel A. R. ^{[1
]}

Willemsen, Gonneke ^{[2
]}

Gordon, Scott ^{[1
]}

Middelberg, Rita P. S. ^{[1
]}

McEvoy, Brian P. ^{[1
]}

Hottenga, Jouke-Jan ^{[2
]}

Henders, Anjali K. ^{[1
]}

Campbell, Megan J. ^{[1
]}

Wallace, Leanne ^{[1
]}

Frazer, Ian H. ^{[3
]}

Heath, Andrew C. ^{[4
,5
]}

de Geus, Eco J. C. ^{[2
]}

Nyholt, Dale R. ^{[1
]}

Visscher, Peter M. ^{[1
]}

Penninx, Brenda W. ^{[6
]}

Boomsma, Dorret I. ^{[2
]}

Martin, Nicholas G. ^{[1
]}

Montgomery, Grant W. ^{[1
]}

Whitfield, John B. ^{[1
]}

机构：

[1] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[2] Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands

[3] Univ Queensland, Princess Alexandra Hosp, Ctr Immunol & Canc Res, Brisbane, Qld, Australia

[4] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[5] Midwest Alcoholism Res Ctr, St Louis, MO USA

[6] Vrije Univ Amsterdam, Med Ctr, Dept Psychiat, Amsterdam, Netherlands

来源：

NATURE GENETICS | 2009年 / 41卷 / 11期

基金：

美国国家卫生研究院; 澳大利亚国家健康与医学研究理事会; 澳大利亚研究理事会; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; MATRIPTASE-2; TMPRSS6; HEPCIDIN EXPRESSION; SERINE-PROTEASE; DISORDER; HFE;

D O I：

10.1038/ng.456

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1173 / 1175

页数：3

共 12 条

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