Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

被引：164

作者：

Adlam, David ^{[1
,2
]}

Olson, Timothy M. ^{[3
]}

Combaret, Nicolas ^{[4
]}

Kovacic, Jason C. ^{[5
]}

Iismaa, Siiri E. ^{[6
,7
]}

Al-Hussaini, Abtehale ^{[1
,2
]}

O'Byrne, Megan M. ^{[8
]}

Bouajila, Sara ^{[4
]}

Georges, Adrien ^{[9
,11
]}

Mishra, Ketan ^{[6
,7
]}

Braund, Peter S. ^{[1
,2
]}

d'Escamard, Valentina ^{[5
]}

Huang, Siying ^{[9
,10
]}

Margaritis, Marios ^{[1
,2
]}

Nelson, Christopher P. ^{[1
,2
]}

de Andrade, Mariza ^{[8
]}

Kadian-Dodov, Daniella ^{[5
]}

Welch, Catherine A. ^{[1
,2
]}

Mazurkiewicz, Stephani ^{[9
,10
]}

Jeunemaitre, Xavier ^{[9
,10
,11
]}

Wong, Claire Mei Yi ^{[6
,7
]}

Giannoulatou, Eleni ^{[6
,7
]}

Sweeting, Michael ^{[1
,2
]}

Muller, David ^{[6
,7
]}

Wood, Alice ^{[1
,2
]}

McGrath-Cadell, Lucy ^{[7
]}

Fatkin, Diane ^{[6
,7
]}

Dunwoodie, Sally L. ^{[6
,7
]}

Harvey, Richard ^{[6
,7
]}

Holloway, Cameron ^{[6
,7
]}

Empana, Jean-Philippe ^{[9
,10
]}

Jouven, Xavier ^{[9
,10
]}

Olin, Jeffrey W. ^{[5
]}

Gulati, Rajiv ^{[3
]}

Tweet, Marysia S. ^{[3
]}

Hayes, Sharonne N. ^{[3
]}

Samani, Nilesh J. ^{[1
,2
]}

Graham, Robert M. ^{[6
,7
]}

Motreff, Pascal ^{[4
]}

Bouatia-Naji, Nabila ^{[9
,10
]}

机构：

[1] Glenfield Hosp, Dept Cardiovasc Sci, Leicester, Leics, England

[2] Glenfield Hosp, Leicester Biomed Res Ctr, NIHR, Leicester, Leics, England

[3] Mayo Clin, Dept Cardiovasc Med, Rochester, MI USA

[4] Auvergne Univ, Univ Hosp Clermont Ferrand, Dept Cardiol, Clermont Ferrand, France

[5] Marie Josee & Henry R Kravis Cardiovasc Hlth Ctr, Zena & Michael A Wiener Cardiovasc Inst, Icahn Sch Med, New York, NY USA

[6] Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Sydney, NSW, Australia

[7] Univ New South Wales, St Vincents Clin Sch, Kensington, NSW, Australia

[8] Mayo Clin, Dept Hlth Sci Res, Rochester, MI USA

[9] INSERM, Paris Cardiovasc Res Ctr, Paris, France

[10] Paris Descartes Univ, Sorbonne Paris Cite, Fac Med, Paris, France

[11] Hop Europeen Georges Pompidou, AP HP, Dept Genet, Paris, France

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2019年 / 73卷 / 01期

基金：

欧洲研究理事会; 美国国家卫生研究院; 英国医学研究理事会;

关键词：

cardiovascular disease in women; fibromuscular dysplasia; genetic association; myocardial infarction; EXTRACORONARY VASCULAR ABNORMALITIES; ACUTE MYOCARDIAL-INFARCTION; GENOME-WIDE ASSOCIATION; FIBROMUSCULAR DYSPLASIA; PREVALENCE; METAANALYSIS; MANAGEMENT; PREGNANCY; RISK;

D O I：

10.1016/j.jacc.2018.09.085

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

BACKGROUND Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extracoronary vascular anomalies, especially fibromuscular dysplasia (FMD) and a low prevalence of coincidental cases of atherosclerosis. PHACTR1/EDN1 is a genetic risk locus for several vascular diseases, including FMD and coronary artery disease, with the putative causal noncoding variant at the rs9349379 locus acting as a potential enhancer for the endothelin-1 (EDN1) gene. OBJECTIVES This study sought to test the association between the rs9349379 genotype and SCAD. METHODS Results from case control studies from France, United Kingdom, United States, and Australia were analyzed to test the association with SCAD risk, including age at first event, pregnancy-associated SCAD (P-SCAD), and recurrent SCAD. RESULTS The previously reported risk allele for FMD (rs9349379-A) was associated with a higher risk of SCAD in all studies. In a meta-analysis of 1,055 SCAD patients and 7,190 controls, the odds ratio (OR) was 1.67 (95% confidence interval [ CI]: 1.50 to 1.86) per copy of rs9349379-A. In a subset of 491 SCAD patients, the OR estimate was found to be higher for the association with SCAD in patients without FMD (OR: 1.89; 95% CI: 1.53 to 2.33) than in SCAD cases with FMD (OR: 1.60; 95% CI: 1.28 to 1.99). There was no effect of genotype on age at first event, P-SCAD, or recurrence. CONCLUSIONS The first genetic risk factor for SCAD was identified in the largest study conducted to date for this condition. This genetic link may contribute to the clinical overlap between SCAD and FMD. (c) 2019 by the American College of Cardiology Foundation.

引用

页码：58 / 66

页数：9

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