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

Publication ,  Journal Article
Georges, A; Yang, M-L; Berrandou, T-E; Bakker, MK; Dikilitas, O; Kiando, SR; Ma, L; Satterfield, BA; Sengupta, S; Yu, M; Deleuze, J-F; Liu, L ...
Published in: Nat Commun
October 15, 2021

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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Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

October 15, 2021

Volume

12

Issue

1

Start / End Page

6031

Location

England

Related Subject Headings

  • Transcriptome
  • Sodium-Calcium Exchanger
  • Plasma Membrane Calcium-Transporting ATPases
  • Middle Aged
  • Microfilament Proteins
  • Male
  • Low Density Lipoprotein Receptor-Related Protein-1
  • Intracranial Aneurysm
  • Humans
  • Genome-Wide Association Study
 

Citation

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Georges, A., Yang, M.-L., Berrandou, T.-E., Bakker, M. K., Dikilitas, O., Kiando, S. R., … Bouatia-Naji, N. (2021). Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun, 12(1), 6031. https://doi.org/10.1038/s41467-021-26174-2
Georges, Adrien, Min-Lee Yang, Takiy-Eddine Berrandou, Mark K. Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, et al. “Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nat Commun 12, no. 1 (October 15, 2021): 6031. https://doi.org/10.1038/s41467-021-26174-2.
Georges A, Yang M-L, Berrandou T-E, Bakker MK, Dikilitas O, Kiando SR, et al. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun. 2021 Oct 15;12(1):6031.
Georges, Adrien, et al. “Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nat Commun, vol. 12, no. 1, Oct. 2021, p. 6031. Pubmed, doi:10.1038/s41467-021-26174-2.
Georges A, Yang M-L, Berrandou T-E, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze J-F, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d’Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M, ARCADIA Investigators, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, Bouatia-Naji N. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun. 2021 Oct 15;12(1):6031.

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

October 15, 2021

Volume

12

Issue

1

Start / End Page

6031

Location

England

Related Subject Headings

  • Transcriptome
  • Sodium-Calcium Exchanger
  • Plasma Membrane Calcium-Transporting ATPases
  • Middle Aged
  • Microfilament Proteins
  • Male
  • Low Density Lipoprotein Receptor-Related Protein-1
  • Intracranial Aneurysm
  • Humans
  • Genome-Wide Association Study