Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

被引：197

作者：

Chambers, John C. ^{[1
]}

Zhang, Weihua ^{[1
]}

Li, Yun ^{[2
]}

Sehmi, Joban ^{[3
]}

Wass, Mark N. ^{[4
]}

Zabaneh, Delilah ^{[1
]}

Hoggart, Clive ^{[1
]}

Bayele, Henry ^{[5
]}

McCarthy, Mark I. ^{[6
,7
]}

Peltonen, Leena ^{[8
]}

Freimer, Nelson B. ^{[9
]}

Srai, Surjit K. ^{[5
]}

Maxwell, Patrick H. ^{[10
]}

Sternberg, Michael J. E. ^{[4
]}

Ruokonen, Aimo ^{[11
]}

Abecasis, Goncalo ^{[2
]}

Jarvelin, Marjo-Riitta ^{[1
,12
,13
]}

Scott, James ^{[3
]}

Elliott, Paul ^{[1
]}

Kooner, Jaspal S. ^{[3
]}

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Publ Hlth, London, England

[2] Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[3] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London, England

[4] Univ London Imperial Coll Sci Technol & Med, Struct Bioinformat Grp, London, England

[5] UCL, Dept Biol Mol & Struct, London, England

[6] Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[7] Oxford NIHR Biomed Res Ctr, Oxford, England

[8] Wellcome Trust Sanger Inst, Cambridge, England

[9] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA USA

[10] UCL, Div Med, London, England

[11] Univ Hosp Oulu, Dept Clin Chem, Oulu, Finland

[12] Univ Oulu, Inst Hlth Sci, Oulu, Finland

[13] Univ Oulu, Bioctr Oulu, Oulu, Finland

来源：

NATURE GENETICS | 2009年 / 41卷 / 11期

基金：

芬兰科学院; 英国惠康基金; 英国生物技术与生命科学研究理事会; 英国医学研究理事会;

关键词：

SERINE-PROTEASE MATRIPTASE-2; IRON-DEFICIENCY; EXPRESSION;

D O I：

10.1038/ng.462

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.

引用

页码：1170 / 1172

页数：3

共 15 条

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