Evidence map›Paper›PMID 34654805›Full record

SynthesisNature communications2021

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

Adrien Georges, Min-Lee Yang, Takiy-Eddine Berrandou, Mark K Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, Benjamin A Satterfield, Sebanti Sengupta, Mengyao Yu and 46 more

Erratum issuedOpen access · goldAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 2 pooled it
7.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 68 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Cerebrovascular fibromuscular dysplasia.Therapeutic advances in neurological disorders · 2026
    Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Circulation research · 2024
    Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

56 authors at 17 institutions in 7 countries.

Adrien Georges *PARCC, INSERM, Université de Paris, F-750015, Paris, France.ORCID http://orcid.org/0000-0003-4208-2393
Min-Lee Yang *Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
Takiy-Eddine Berrandou *PARCC, INSERM, Université de Paris, F-750015, Paris, France.ORCID http://orcid.org/0000-0002-0525-3002
Mark K BakkerDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-7887-9014
Ozan DikilitasDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55902, USA.ORCID http://orcid.org/0000-0002-9906-8608
Soto Romuald KiandoPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Lijiang MaIcahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Benjamin A SatterfieldDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55902, USA.
Sebanti SenguptaDivision of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
Mengyao YuPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, Institut de Génomique, CEA and Fondation Jean Dausset-CEPH, Evry, France.ORCID http://orcid.org/0000-0002-5358-4463
Delia DupréPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Kristina L HunkerDivision of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
Sergiy KyryachenkoPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Lu LiuPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Ines Sayoud-SadegPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Laurence AmarPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Chad M BrummettDepartment of Anesthesiology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA.
Dawn M ColemanVascular Surgery Section, Department of Surgery, Michigan Medicine, University of Michigan, Ann Arbor, MI, 48109, USA.
Valentina d'EscamardCardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Peter de LeeuwDepartment of Internal Medicine, Division of General Internal Medicine, Section Vascular Medicine, Maastricht University Medical Centre, Maastricht University, Maastricht, the Netherlands.ORCID http://orcid.org/0000-0002-4949-5812
Natalia Fendrikova-MahlayHeart and Vascular Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Daniella Kadian-DodovZena and Michael A. Wiener Cardiovascular Institute and Marie-Josée and Henry R, Kravis Center for Cardiovascular Health Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jun Z LiDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-6727-0812
Aurélien LorthioirPARCC, INSERM, Université de Paris, F-750015, Paris, France.
Marco PappaccogliDivision of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200, Brussels, Belgium.
Aleksander PrejbiszDepartment of Hypertension, National Institute of Cardiology, Warsaw, Poland.
Witold SmigielskiDepartment of Demography, University of Lodz, Lodz, Poland.
James C StanleyVascular Surgery Section, Department of Surgery, Michigan Medicine, University of Michigan, Ann Arbor, MI, 48109, USA.
Matthew ZawistowskiDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-3005-083X
Xiang ZhouDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-4331-7599
Sebastian ZöllnerDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.
FEIRI investigators
International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group
MEGASTROKE
Philippe AmouyelUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Labex DISTALZ - Risk factors and molecular determinants of aging-related disease, F-59000, Lille, France.ORCID http://orcid.org/0000-0001-9088-234X
Marc L De BuyzereDepartment of Cardiovascular Diseases, Ghent University and Ghent University Hospital, Ghent, Belgium.
Stéphanie DebetteDepartment of Neurology, Bordeaux University Hospital, Inserm U1219, Bordeaux, France.ORCID http://orcid.org/0000-0001-8675-7968
Piotr DobrowolskiDepartment of Hypertension, National Institute of Cardiology, Warsaw, Poland.
Wojciech DrygasDepartment of Epidemiology, Cardiovascular Disease Prevention, and Health Promotion, National Institute of Cardiology, Warsaw, Poland.
Heather L GornikHeart and Vascular Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.ORCID http://orcid.org/0000-0002-5849-4010
Jeffrey W OlinZena and Michael A. Wiener Cardiovascular Institute and Marie-Josée and Henry R, Kravis Center for Cardiovascular Health Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-3374-616X
Jerzy PiwonskiDepartment of Epidemiology, Cardiovascular Disease Prevention, and Health Promotion, National Institute of Cardiology, Warsaw, Poland.
Ernst R RietzschelDepartment of Cardiovascular Diseases, Ghent University and Ghent University Hospital, Ghent, Belgium.
Ynte M RuigrokDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55902, USA.ORCID http://orcid.org/0000-0002-5396-2989
Miikka VikkulaHuman Molecular Genetics, de Duve Institute, Université Catholique de Louvain, 1200, Brussels, Belgium.ORCID http://orcid.org/0000-0002-6236-338X
Ewa Warchol CelinskaDepartment of Hypertension, National Institute of Cardiology, Warsaw, Poland.ORCID http://orcid.org/0000-0002-6757-2527
Andrzej JanuszewiczDepartment of Hypertension, National Institute of Cardiology, Warsaw, Poland.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55902, USA.ORCID http://orcid.org/0000-0002-6524-3471
Michel AziziHypertension Unit, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, F-75015, Paris, France.
ARCADIA Investigators
Xavier JeunemaitrePARCC, INSERM, Université de Paris, F-750015, Paris, France.ORCID http://orcid.org/0000-0001-5925-381X
Alexandre PersuDivision of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200, Brussels, Belgium.
Jason C KovacicZena and Michael A. Wiener Cardiovascular Institute and Marie-Josée and Henry R, Kravis Center for Cardiovascular Health Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Santhi K GaneshDivision of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA. sganesh@med.umich.edu.ORCID http://orcid.org/0000-0002-3663-5249
Nabila Bouatia-NajiPARCC, INSERM, Université de Paris, F-750015, Paris, France. nabila.bouatia-naji@inserm.fr.ORCID http://orcid.org/0000-0001-5424-2134
Inserm · FRUniversity of Michigan · USCardiovascular Institute of the South · USMayo Clinic in Arizona · USCleveland Clinic · USCliniques Universitaires Saint-Luc · BEGhent University Hospital · BEMichigan Medicine · USMaastricht University Medical Centre · NLMayo Clinic · USVictor Chang Cardiac Research Institute · AUCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRde Duve Institute · BEIcahn School of Medicine at Mount Sinai · USInstitute of Cardiology · PLUniversity of Łódź · PLUtrecht University · NL

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024989 · NCRR · CASE WESTERN RESERVE UNIVERSITY · PI DAVIS, PAMELA B · 2007 to 2011
$53.7M
Clinical and Translational Science Collaborative of ClevelandUL1TR002548 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI MCCOMSEY, GRACE A · 2018 to 2022
$35.5M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Genomic and Functional Studies of Dysplasia-Associated Arterial DiseasesR35HL161016 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SANTHI K GANESH · 2022 to 2026
$4.6M
Genetic Studies of The Impact of Hematologic Traits On Cardiovascular DiseaseR01HL122684 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GANESH, SANTHI K · 2015 to 2019
$3.4M
Genetic and Genomic Analysis of Arterial DysplasiaR01HL139672 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GANESH, SANTHI K · 2018 to 2021
$2.9M
Understanding the Molecular Mechanisms of Fibromuscular DysplasiaR01HL148167 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KADIAN-DODOV, DANIELLA, KOVACIC, JASON CIRIL · 2020 to 2023
$2.8M
Patient-Oriented Research in Genomic Discovery and ImplementationK24HL137010 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2021
$590k
NCATS NIH HHS UL1 TR002548NCRR NIH HHS UL1 RR024989NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL122684NHLBI NIH HHS R01 HL139672NHLBI NIH HHS R01 HL148167NHLBI NIH HHS R35 HL161016
6 · The paper itself

Abstract

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.

Indexed as

Genome-Wide Association StudyAdultArteriesCardiovascular DiseasesCytoskeletal ProteinsFemaleFibroblastsFibromuscular DysplasiaGene Expression RegulationHumansIntracranial AneurysmLow Density Lipoprotein Receptor-Related Protein-1MaleMicrofilament ProteinsMiddle AgedPlasma Membrane Calcium-Transporting ATPasesATP2B1 protein, humanCytoskeletal ProteinsLIMA1 protein, humanLow Density Lipoprotein Receptor-Related Protein-1LRP1 protein, humanMicrofilament ProteinsPHACTR1 protein, humanPlasma Membrane Calcium-Transporting ATPasesSLC24A3 protein, humanSodium-Calcium Exchanger

Identifiers

PMID34654805
PMCPMC8521585
OpenAlexW3205546071

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.