Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies

被引：410

作者：

Reilly, Muredach P. ^{[1
,2
]}

Li, Mingyao

He, Jing

Ferguson, Jane F. ^{[1
]}

Stylianou, Ioannis M. ^{[2
]}

Mehta, Nehal N. ^{[1
,2
]}

Burnett, Mary Susan ^{[3
]}

Devaney, Joseph M. ^{[3
]}

Knouff, Christopher W. ^{[4
,5
]}

Thompson, John R. ^{[6
]}

Horne, Benjamin D. ^{[8
,9
]}

Stewart, Alexandre F. R. ^{[11
]}

Assimes, Themistocles L. ^{[12
]}

Wild, Philipp S. ^{[13
]}

Allayee, Hooman ^{[14
]}

Nitschke, Patrick Linsel ^{[15
]}

Patel, Riyaz S. ^{[16
]}

Martinelli, Nicola ^{[17
]}

Girelli, Domenico ^{[17
]}

Quyyumi, Arshed A. ^{[16
]}

Anderson, Jeffrey L. ^{[8
,10
]}

Erdmann, Jeanette ^{[15
]}

Hall, Alistair S. ^{[18
,19
]}

Schunkert, Heribert ^{[15
]}

Quertermous, Thomas ^{[12
]}

Blankenberg, Stefan ^{[13
]}

Hazen, Stanley L. ^{[20
]}

Roberts, Robert ^{[11
]}

Kathiresan, Sekar ^{[21
,22
,23
,24
,25
,26
]}

Samani, Nilesh J. ^{[7
,27
]}

Epstein, Stephen E. ^{[3
]}

Rader, Daniel J. ^{[1
,2
]}

机构：

[1] Univ Penn, Cardiovasc Inst, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA

[3] Washington Hosp Ctr, MedStar Hlth Res Inst, Cardiovasc Res Inst, Washington, DC 20010 USA

[4] GlaxoSmithKline, Div Genet, King Of Prussia, PA USA

[5] GlaxoSmithKline, Drug Discovery, King Of Prussia, PA USA

[6] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England

[7] Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England

[8] Intermt Med Ctr, Cardiovasc Dept, Salt Lake City, UT USA

[9] Univ Utah, Genet Epidemiol Div, Salt Lake City, UT USA

[10] Univ Utah, Div Cardiol, Salt Lake City, UT 84112 USA

[11] Univ Ottawa, Inst Heart, Dept Med, Ottawa, ON, Canada

[12] Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA

[13] Univ Med Ctr Mainz, Dept Med 2, Mainz, Germany

[14] Univ So Calif, Keck Sch Med, Inst Med Genet, Dept Prevent Med, Los Angeles, CA 90033 USA

[15] Univ Lubeck, Med Klin 2, Lubeck, Germany

[16] Emory Univ, Sch Med, Div Cardiol, Atlanta, GA 30322 USA

[17] Univ Verona, Dept Med, I-37100 Verona, Italy

[18] Univ Leeds, Leeds Inst Genet Hlth & Therapeut, Leeds, W Yorkshire, England

[19] Univ Leeds, Multidisciplinary Cardiovasc Res Ctr, Leeds, W Yorkshire, England

[20] Cleveland Clin, Ctr Cardiovasc Diagnost & Prevent, Cleveland, OH 44106 USA

[21] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA

[22] Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA

[23] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[24] Harvard Univ, Sch Med, Dept Med, Boston, MA USA

[25] MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02139 USA

[26] Harvard Univ, Cambridge, MA 02138 USA

[27] Glenfield Hosp, Leicester Natl Inst Hlth Res, Biomed Res Unit Cardiovasc Dis, Leicester, Leics, England

来源：

LANCET | 2011年 / 377卷 / 9763期

关键词：

SINGLE-NUCLEOTIDE POLYMORPHISMS; VON-WILLEBRAND-FACTOR; SUSCEPTIBILITY LOCUS; CHROMOSOME; 9P21; ARTERY-DISEASE; LINKAGE; METAANALYSIS; IMPUTATION; EFFICIENT; SELECTIN;

D O I：

10.1016/S0140-6736(10)61996-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background We tested whether genetic factors distinctly contribute to either development of coronary atherosclerosis or, specifically, to myocardial infarction in existing coronary atherosclerosis. Methods We did two genome-wide association studies (GWAS) with coronary angiographic phenotyping in participants of European ancestry. To identify loci that predispose to angiographic coronary artery disease (CAD), we compared individuals who had this disorder (n=12393) with those who did not (controls, n=7383). To identify loci that predispose to myocardial infarction, we compared patients who had angiographic CAD and myocardial infarction (n=5783) with those who had angiographic CAD but no myocardial infarction (n=3644). Findings In the comparison of patients with angiographic CAD versus controls, we identified a novel locus, ADAMTS7 (p=4.98x10(-13)). In the comparison of patients with angiographic CAD who had myocardial infarction versus those with angiographic CAD but no myocardial infarction, we identified a novel association at the ABO locus (p=7.62x10(-9)). The ABO association was attributable to the glycotransferase-deficient enzyme that encodes the ABO blood group 0 phenotype previously proposed to protect against myocardial infarction. Interpretation Our findings indicate that specific genetic predispositions promote the development of coronary atherosclerosis whereas others lead to myocardial infarction in the presence of coronary atherosclerosis. The relation to specific CAD phenotypes might modify how novel loci are applied in personalised risk assessment and used in the development of novel therapies for CAD.

引用

页码：383 / 392

页数：10

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