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Article Dans Une Revue Nature Communications Année : 2021

Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Adrien Georges
Peter de Leeuw

Résumé

Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. We report results from the first genome-wide association meta-analysis of six studies including 1556 FMD cases and 7100 controls. We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1). Transcriptome-wide association analysis in arteries identifies one additional locus (SLC24A3). We characterize open chromatin in arterial primary cells and find that FMD associated variants are located in arterial-specific regulatory elements. Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction. We find significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.
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Origine : Publication financée par une institution
Commentaire : Author Correction: Nature Communications volume 13, Article number: 2251 (2022) https://doi.org/10.1038/s41467-022-29921-1

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hal-03467392 , version 1 (06-12-2021)

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Adrien Georges, Min Lee Yang, Takiy Eddine Berrandou, Mark K. Bakker, Ozan Dikilitas, et al.. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nature Communications, 2021, 12 (1), pp.6031. ⟨10.1038/s41467-021-26174-2⟩. ⟨hal-03467392⟩
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