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Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.
Adlam, David; Olson, Timothy M; Combaret, Nicolas; Kovacic, Jason C; Iismaa, Siiri E; Al-Hussaini, Abtehale; O'Byrne, Megan M; Bouajila, Sara; Georges, Adrien; Mishra, Ketan; Braund, Peter S; d'Escamard, Valentina; Huang, Siying; Margaritis, Marios; Nelson, Christopher P; de Andrade, Mariza; Kadian-Dodov, Daniella; Welch, Catherine A; Mazurkiewicz, Stephani; Jeunemaitre, Xavier; Wong, Claire Mei Yi; Giannoulatou, Eleni; Sweeting, Michael; Muller, David; Wood, Alice; McGrath-Cadell, Lucy; Fatkin, Diane; Dunwoodie, Sally L; Harvey, Richard; Holloway, Cameron; Empana, Jean-Philippe; Jouven, Xavier; Olin, Jeffrey W; Gulati, Rajiv; Tweet, Marysia S; Hayes, Sharonne N; Samani, Nilesh J; Graham, Robert M; Motreff, Pascal; Bouatia-Naji, Nabila.
Afiliação
  • Adlam D; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom. Electronic address: da134@le.ac.uk.
  • Olson TM; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Combaret N; Department of Cardiology, University Hospital of Clermont-Ferrand, Auvergne University, Clermont-Ferrand, France.
  • Kovacic JC; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine, Marie-Josée and Henry R. Kravis Cardiovascular Health Center at Mount Sinai, New York, New York.
  • Iismaa SE; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Al-Hussaini A; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • O'Byrne MM; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
  • Bouajila S; Department of Cardiology, University Hospital of Clermont-Ferrand, Auvergne University, Clermont-Ferrand, France.
  • Georges A; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France.
  • Mishra K; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Braund PS; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • d'Escamard V; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine, Marie-Josée and Henry R. Kravis Cardiovascular Health Center at Mount Sinai, New York, New York.
  • Huang S; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France.
  • Margaritis M; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • Nelson CP; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • de Andrade M; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
  • Kadian-Dodov D; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine, Marie-Josée and Henry R. Kravis Cardiovascular Health Center at Mount Sinai, New York, New York.
  • Welch CA; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • Mazurkiewicz S; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France.
  • Jeunemaitre X; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Wong CMY; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Giannoulatou E; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Sweeting M; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • Muller D; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Wood A; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • McGrath-Cadell L; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Fatkin D; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Dunwoodie SL; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Harvey R; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Holloway C; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Empana JP; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France.
  • Jouven X; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France.
  • Olin JW; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine, Marie-Josée and Henry R. Kravis Cardiovascular Health Center at Mount Sinai, New York, New York.
  • Gulati R; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Tweet MS; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Hayes SN; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Samani NJ; Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
  • Graham RM; Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; St. Vincent's Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
  • Motreff P; Department of Cardiology, University Hospital of Clermont-Ferrand, Auvergne University, Clermont-Ferrand, France.
  • Bouatia-Naji N; INSERM, Paris Cardiovascular Research Center, Paris, France; Faculty of Medicine, Paris-Descartes University, Sorbonne Paris Cité, Paris, France. Electronic address: nabila.bouatia-naji@inserm.fr.
J Am Coll Cardiol ; 73(1): 58-66, 2019 01 08.
Article em En | MEDLINE | ID: mdl-30621952
ABSTRACT

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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vasculares / Endotelina-1 / Anomalias dos Vasos Coronários / Loci Gênicos / Displasia Fibromuscular / Proteínas dos Microfilamentos Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte / Europa / Oceania Idioma: En Revista: J Am Coll Cardiol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vasculares / Endotelina-1 / Anomalias dos Vasos Coronários / Loci Gênicos / Displasia Fibromuscular / Proteínas dos Microfilamentos Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte / Europa / Oceania Idioma: En Revista: J Am Coll Cardiol Ano de publicação: 2019 Tipo de documento: Article