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

Georges, Adrien and Yang, Min-Lee and Berrandou, Takiy-Eddine and Bakker, Mark K. and Dikilitas, Ozan and Kiando, Soto Romuald and Ma, Lijiang and Satterfield, Benjamin A. and Sengupta, Sebanti and Yu, Mengyao and Deleuze, Jean-François and Dupré, Delia and Hunker, Kristina L. and Kyryachenko, Sergiy and Liu, Lu and Sayoud-Sadeg, Ines and Amar, Laurence and Brummett, Chad M. and Coleman, Dawn M. and d’Escamard, Valentina and de Leeuw, Peter and Fendrikova-Mahlay, Natalia and Kadian-Dodov, Daniella and Li, Jun Z. and Lorthioir, Aurélien and Pappaccogli, Marco and Prejbisz, Aleksander and Smigielski, Witold and Stanley, James C. and Zawistowski, Matthew and Zhou, Xiang and Zöllner, Sebastian and de Leeuw, Peter and Amouyel, Philippe and De Buyzere, Marc L. and Debette, Stéphanie and Dobrowolski, Piotr and Drygas, Wojciech and Gornik, Heather L. and Olin, Jeffrey W. and Piwonski, Jerzy and Rietzschel, Ernst R. and Ruigrok, Ynte M. and Vikkula, Miikka and Warchol Celinska, Ewa and Januszewicz, Andrzej and Kullo, Iftikhar J. and Azizi, Michel and Jeunemaitre, Xavier and Persu, Alexandre and Kovacic, Jason C. and Ganesh, Santhi K. and Bouatia-Naji, Nabila (2021) Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nature Communications, 12 (1). ISSN 2041-1723

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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.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 10 Dec 2021 03:43
Last Modified: 10 Dec 2021 03:43

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