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18.04.2024 | Original Paper

Genetic associations of cardiovascular risk genes in European patients with coronary artery spasm

verfasst von: Roman Tremmel, Valeria Martínez Pereyra, Incifer Broders, Elke Schaeffeler, Per Hoffmann, Markus M. Nöthen, Raffi Bekeredjian, Udo Sechtem, Matthias Schwab, Peter Ong

Erschienen in: Clinical Research in Cardiology

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Abstract

Background

Coronary artery spasm (CAS) is a frequent finding in patients presenting with angina pectoris. Although the pathogenesis of CAS is incompletely understood, previous studies suggested a genetic contribution. Our study aimed to elucidate genetic variants in a cohort of European patients with angina and unobstructed coronary arteries who underwent acetylcholine (ACh) provocation testing.

Methods

A candidate association analysis of 208 genes previously associated with cardiovascular conditions was performed using genotyped and imputed variants in patients grouped in epicardial (focal, diffuse) CAS (n = 119) and microvascular CAS (n = 87). Patients with a negative ACh test result (n = 45) served as controls.

Results

We found no association below the genome-wide significance threshold of p < 5 × 10⁻⁸, thus not confirming variants in ALDH2, NOS3, and ROCK2 previously reported in CAS patients of Asian ancestry. However, the analysis identified suggestive associations (p < 10⁻⁰⁵) for the groups of focal epicardial CAS (CDH13) and diffuse epicardial CAS (HDAC9, EDN1). Downstream analysis of the potential EDN1 risk locus showed that CAS patients have significantly increased plasma endothelin-1 levels (ET-1) compared to controls. An EDN1 haplotype comprising rs9349379 and rs2070698 was significantly associated to ET-1 levels (p = 0.01).

Conclusions

In summary, we suggest EDN1 as potential genetic risk loci for patients with diffuse epicardial CAS, and European ancestry. Plasma ET-1 levels may serve as a potential cardiac marker.

Graphical Abstract

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Titel: Genetic associations of cardiovascular risk genes in European patients with coronary artery spasm
verfasst von: Roman Tremmel
Valeria Martínez Pereyra
Incifer Broders
Elke Schaeffeler
Per Hoffmann
Markus M. Nöthen
Raffi Bekeredjian
Udo Sechtem
Matthias Schwab
Peter Ong
Publikationsdatum: 18.04.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: Clinical Research in Cardiology
Print ISSN: 1861-0684
Elektronische ISSN: 1861-0692
DOI: https://doi.org/10.1007/s00392-024-02446-x

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Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Genetic associations of cardiovascular risk genes in European patients with coronary artery spasm

Abstract

Background

Methods

Results

Conclusions

Graphical Abstract

Neu im Fachgebiet Kardiologie

„Jeder Fall von plötzlichem Tod muss obduziert werden!“

Hirnblutung unter DOAK und VKA ähnlich bedrohlich

Schlechtere Vorhofflimmern-Prognose bei kleinem linken Ventrikel

Semaglutid bei Herzinsuffizienz: Wie erklärt sich die Wirksamkeit?

Update Kardiologie

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Abstract

Background

Methods

Results

Conclusions

Graphical Abstract

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Neu im Fachgebiet Kardiologie

„Jeder Fall von plötzlichem Tod muss obduziert werden!“

Hirnblutung unter DOAK und VKA ähnlich bedrohlich

Schlechtere Vorhofflimmern-Prognose bei kleinem linken Ventrikel

Semaglutid bei Herzinsuffizienz: Wie erklärt sich die Wirksamkeit?

Update Kardiologie