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

David Adlam; Timothy Olson; Nicolas Combaret; Jason Kovacic; Siiri Iismaa; Abtehale Al-Hussaini; Megan O'Byrne; Sara Bouajila; Adrien Georges; Ketan Mishra; Peter Braund; Valentina D’escamard; Siying Huang; Marios Margaritis; Daniella Kadian-Dodov; Catherine Welch; Stephani Mazurkiewicz; Xavier Jeunemaitre; Claire Mei Yi Wong; Eleni Giannoulatou; Michael Sweeting; David Muller; Alice Wood; Lucy Mcgrath-Cadell; Diane Fatkin; Sally Dunwoodie; Richard Harvey; Cameron Holloway; Jean-Philippe Empana; Xavier Jouven; Jeffrey Olin; Rajiv Gulati; Marysia Tweet; Sharonne Hayes; Robert Graham; Nabila Bouatia-Naji; Pascal Motreff; Loïc Belle; Patrick Dupouy; Pierre Barnay; Nicolas Meneveau; Martine Gilard; Gilles Rioufol; Grégoire Range; Philippe Brunel; Nicolas Delarche; Emmanuelle Filippi; Louis Le Bivic; Brahim Harbaoui; Guillaume Cayla; Olivier Varenne; Stephane Peggy Manzo-Silberman; Johanne Silvain; Christian Spaulding; Christophe Caussin; Edouard Gerbaud; Yann Valy; René Koning; Thibault Lhermusier; Stanislas Champin; Emmanuel Salengro; Arnaud Fluttaz; Amer Zabalawi; Yves Cottin; Emmanuel Teiger; Christophe Saint-Etienne; Grégory Ducrocq; Stéphanie Marliere; Emmanuel Boiffard; Pierre Aubry; Jean Louis Georges; Hakim Benamer; Didier Bresson; Fabien de Poli; Gaëtan Karrillon; Vincent Roule; Laurent Bali; Mathieu Valla; Antoine Gerbay; David Houpe; Olivier Dubreuil; Arsène Monnier; Norbert Mayaud; Aurélie Manchuelle; Philippe Commeau; Marc Bedossa; Majid Nikpay; Anuj Goel; Hong-Hee Won; Leanne Hall; Christina Willenborg; Stavroula Kanoni; Danish Saleheen; Theodosios Kyriakou; Christopher Nelson; Jemma Hopewell; Thomas Webb; Lingyao Zeng; Abbas Dehghan; Maris Alver; CARDIoGRAMPlusC4D Study Group

doi:10.1016/j.jacc.2018.09.085

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

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

David Adlam, Timothy Olson, Nicolas Combaret, Jason Kovacic, Siiri Iismaa, Abtehale Al-Hussaini, Megan O'Byrne, Sara Bouajila, Adrien Georges, Ketan Mishra, …

Journal of the American College of Cardiology, Vol.73(1), pp.58-66

08/01/2019

DOI: https://doi.org/10.1016/j.jacc.2018.09.085

PMID: 30621952

Résumé

Australia

Cardiology and cardiovascular system

Coronary Vessel Anomalies / epidemiology

Endothelin-1 / genetics

Genetics

Human genetics

Human health and pathology

Life Sciences

Microfilament proteins / genetics

Santé publique et épidémiologie

United Kingdom

États-Unis

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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Détails

Titre: Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection
Créateurs - sans rôle: David Adlam - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
Timothy Olson - Mayo Clinic [Rochester]
Nicolas Combaret - Service Cardiologie Médicale et Médecine Vasculaire [CHU Clermont-Ferrand]
Jason Kovacic - Icahn School of Medicine at Mount Sinai [New York]
Siiri Iismaa - Victor Chang Cardiac Research Institute
Abtehale Al-Hussaini - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
Megan O'Byrne - Department of Health Sciences Research [Mayo Clinic]
Sara Bouajila - Service Cardiologie Médicale et Médecine Vasculaire [CHU Clermont-Ferrand]
Adrien Georges - Paris-Centre de Recherche Cardiovasculaire
Ketan Mishra - Victor Chang Cardiac Research Institute
Peter Braund - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
Valentina D’escamard - Icahn School of Medicine at Mount Sinai [New York]
Siying Huang - Paris-Centre de Recherche Cardiovasculaire
Marios Margaritis - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
Daniella Kadian-Dodov - Icahn School of Medicine at Mount Sinai [New York]
Catherine Welch - University of Leicester
Stephani Mazurkiewicz - Paris-Centre de Recherche Cardiovasculaire
Xavier Jeunemaitre - Paris-Centre de Recherche Cardiovasculaire
Claire Mei Yi Wong - Victor Chang Cardiac Research Institute
Eleni Giannoulatou - Victor Chang Cardiac Research Institute
Michael Sweeting - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
David Muller - Victor Chang Cardiac Research Institute
Alice Wood - Department of Cardiovascular Sciences, University of Leicester and NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester
Lucy Mcgrath-Cadell - St. Vincent’s Clinical School [Sydney, Australia]
Diane Fatkin - Victor Chang Cardiac Research Institute
Sally Dunwoodie - Victor Chang Cardiac Research Institute
Richard Harvey - St. Vincent’s Clinical School [Sydney, Australia]
Cameron Holloway - Victor Chang Cardiac Research Institute
Jean-Philippe Empana - Paris-Centre de Recherche Cardiovasculaire
Xavier Jouven - Paris-Centre de Recherche Cardiovasculaire
Jeffrey Olin - Icahn School of Medicine at Mount Sinai [New York]
Rajiv Gulati - Mayo Clinic [Rochester]
Marysia Tweet - Department of Cardiovascular Medicine, Mayo Clinic
Sharonne Hayes - Mayo Clinic [Rochester]
Robert Graham - Victor Chang Cardiac Research Institute
Nabila Bouatia-Naji - Paris-Centre de Recherche Cardiovasculaire
Pascal Motreff
Loïc Belle
Patrick Dupouy
Pierre Barnay
Nicolas Meneveau
Martine Gilard
Gilles Rioufol
Grégoire Range
Philippe Brunel
Nicolas Delarche
Emmanuelle Filippi
Louis Le Bivic
Brahim Harbaoui
Guillaume Cayla - Hôpital Universitaire Carémeau [Nîmes]
Olivier Varenne
Stephane Peggy Manzo-Silberman
Johanne Silvain
Christian Spaulding
Christophe Caussin
Edouard Gerbaud
Yann Valy
René Koning
Thibault Lhermusier
Stanislas Champin
Emmanuel Salengro
Arnaud Fluttaz
Amer Zabalawi
Yves Cottin
Emmanuel Teiger
Christophe Saint-Etienne
Grégory Ducrocq
Stéphanie Marliere
Emmanuel Boiffard
Pierre Aubry
Jean Louis Georges
Hakim Benamer
Didier Bresson
Fabien de Poli
Gaëtan Karrillon
Vincent Roule
Laurent Bali
Mathieu Valla
Antoine Gerbay
David Houpe
Olivier Dubreuil
Arsène Monnier
Norbert Mayaud
Aurélie Manchuelle
Philippe Commeau
Marc Bedossa
Majid Nikpay
Anuj Goel
Hong-Hee Won
Leanne Hall
Christina Willenborg
Stavroula Kanoni
Danish Saleheen
Theodosios Kyriakou
Christopher Nelson
Jemma Hopewell
Thomas Webb
Lingyao Zeng
Abbas Dehghan
Maris Alver
CARDIoGRAMPlusC4D Study Group
Détails de publication: Journal of the American College of Cardiology, Vol.73(1), pp.58-66
Éditeur: Elsevier
Nombre de pages: 9
Identifiants: 99148761009311
Unité académique: Recherche hors université
Langue: English
Type de ressource: Journal article