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

A. Georges, M.L. Yang, T.E. Berrandou, M.K. Bakker, O. Dikilitas, S.R. Kiando, L.J. Ma, B.A. Satterfield, S. Sengupta, M.Y. Yu, J.F. Deleuze, D. Dupre, K.L. Hunker, S. Kyryachenko, L. Liu, I. Sayoud-Sadeg, L. Amar, C.M. Brummett, D.M. Coleman, V. d'EscamardP. de Leeuw, N. Fendrikova-Mahlay, D. Kadian-Dodov, J.Z. Li, A. Lorthioir, M. Pappaccogli, A. Prejbisz, W. Smigielski, J.C. Stanley, M. Zawistowski, X. Zhou, S. Zollner, P. Amouyel, M.L. De Buyzere, S. Debette, P. Dobrowolski, W. Drygas, H.L. Gornik, J.W. Olin, J. Piwonski, E.R. Rietzschel, Y.M. Ruigrok, M. Vikkula, E.W. Celinska, A. Januszewicz, I.J. Kullo, M. Azizi, X. Jeunemaitre, A. Persu, J.C. Kovacic, FEIRI Investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, S.K. Ganesh*, Nabila Bouatia-Naji*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Fibromuscular dysplasia is a cardiovascular disease affecting mostly women with a mostly unknown genetic basis. Here the authors have performed a genome-wide association meta-analysis of Fibromuscular dysplasia to identify genetic loci, some of which are shared with common cardiovascular disease and traits.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.
Original languageEnglish
Article number6031
Number of pages16
JournalNature Communications
Issue number1
Publication statusPublished - 15 Oct 2021




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  • Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

    Georges, A., Yang, M-L., Berrandou, T-E., Bakker, M. K., Dikilitas, O., Kiando, S. R., Ma, L., Satterfield, B. A., Sengupta, S., Yu, M., Deleuze, J-F., Dupré, D., Hunker, K. L., Kyryachenko, S., Liu, L., Sayoud-Sadeg, I., Amar, L., Brummett, C. M., Coleman, D. M., d'Escamard, V., & 31 othersde Leeuw, P., Fendrikova-Mahlay, N., Kadian-Dodov, D., Li, J. Z., Lorthioir, A., Pappaccogli, M., Prejbisz, A., Smigielski, W., Stanley, J. C., Zawistowski, M., Zhou, X., Zöllner, S., Amouyel, P., De Buyzere, M. L., Debette, S., Dobrowolski, P., Drygas, W., Gornik, H. L., Olin, J. W., Piwonski, J., Rietzschel, E. R., Ruigrok, Y. M., Vikkula, M., Warchol Celinska, E., Januszewicz, A., Kullo, I. J., Azizi, M., Jeunemaitre, X., Persu, A., Kovacic, J. C. & FEIRI Investigators, 20 Apr 2022, In: Nature Communications. 13, 1, 1 p., 2251.

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