Evidence map›Paper›PMID 35583931›Full record

ArticleCirculation. Genomic and precision medicine2022

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.

Ingrid Tarr, Stephanie Hesselson, Siiri E Iismaa, Emma Rath, Steven Monger, Michael Troup, Ketan Mishra, Claire M Y Wong, Pei-Chen Hsu, Keerat Junday and 15 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 2 pooled it
5.6field-weighted citation impact, top 3% 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

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

  1. Pooled it
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  6. Cardiovascular complications of pregnancy.The Journal of clinical investigation · 2026
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  11. JACC. Advances · 2024
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  20. Spontaneous coronary artery dissection: an unpredictable event.European heart journal supplements : journal of the European Society of Cardiology · 2023
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 5 institutions in 4 countries.

Ingrid Tarr *Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-4847-2838
Stephanie Hesselson *Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-4521-5086
Siiri E IismaaVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-2409-7356
Emma RathVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-8430-5236
Steven MongerVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-4209-3092
Michael TroupVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-3017-7029
Ketan MishraVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0001-6175-6643
Claire M Y WongVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-3129-3438
Pei-Chen HsuVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-6772-077X
Keerat JundayVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0001-7122-3226
David T HumphreysVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-4140-0089
David AdlamDepartment of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (D.A., T.R.W., A.A.B.-C., S.E.H., N.J.S.).ORCID 0000-0002-0080-9884
Tom R WebbDepartment of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (D.A., T.R.W., A.A.B.-C., S.E.H., N.J.S.).ORCID 0000-0001-5998-8226
Anna A Baranowska-ClarkeUNSW Sydney, Kensington, NSW, Australia (S.E.I., E.R., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-0827-6792
Stephen E HambyDepartment of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (D.A., T.R.W., A.A.B.-C., S.E.H., N.J.S.).ORCID 0000-0002-6215-5791
Keren J CarssCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, United Kingdom (K.J.C.).ORCID 0000-0003-4939-156X
Nilesh J SamaniDepartment of Cardiovascular Sciences, NIHR Leicester Biomedical Research Centre, University of Leicester, United Kingdom (D.A., T.R.W., A.A.B.-C., S.E.H., N.J.S.).ORCID 0000-0002-3286-8133
Monique BaxVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-2468-0250
Lucy McGrath-CadellVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).
Jason C KovacicVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0003-4555-769X
Sally L DunwoodieVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-2069-7349
Diane FatkinVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-9010-9856
David W M MullerVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-5281-0166
Robert M GrahamVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-1042-2587
Eleni GiannoulatouVictor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (I.T., S.H., S.E.I., E.R., S.M., M.T., K.M., C.M.Y.W., P.-C.H., K.J., D.T.H., M.B., L.M.-C., J.C.K., S.L.D., D.F., D.W.M.M., R.M.G., E.G.).ORCID 0000-0002-7084-6736
Victor Chang Cardiac Research Institute · AUNIHR Leicester Biomedical Research Centre · GBNIHR Leicester Cardiovascular Biomedical Research Unit · GBAstraZeneca (Australia) · AUMACOM (United States) · US

Funding

Therapeutic Mechanisms of Cardiac Progenitors in Ischemic CardiomyopathyR01HL135093 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI FISH, KENNETH MICHAEL, KOVACIC, JASON CIRIL · 2017 to 2020
$3.4M
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
Toward Therapeutic Manipulation of Endothelial to Mesenchymal TransitionR01HL130423 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ISHIKAWA, KIYOTAKE, KOVACIC, JASON CIRIL · 2016 to 2020
$2.1M
NHLBI NIH HHS R01 HL130423NHLBI NIH HHS R01 HL135093NHLBI NIH HHS R01 HL148167
6 · The paper itself

Abstract

backgroundSpontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been observed in many SCAD patients. A genetic component for SCAD is increasingly appreciated, although few genes have been robustly implicated. We sought to clarify the genetic cause of SCAD using targeted and genome-wide methods in a cohort of sporadic cases to identify both common and rare disease-associated variants.

methodsA cohort of 91 unrelated sporadic SCAD cases was investigated for rare, deleterious variants in genes associated with either SCAD or CTD, while new candidate genes were sought using rare variant collapsing analysis and identification of novel loss-of-function variants in genes intolerant to such variation. Finally, 2 SCAD polygenic risk scores were applied to assess the contribution of common variants.

resultsWe identified 10 cases with at least one rare, likely disease-causing variant in CTD-associated genes, although only one had a CTD phenotype. No genes were significantly associated with SCAD from genome-wide collapsing analysis, however, enrichment for TGF (transforming growth factor)-β signaling pathway genes was found with analysis of 24 genes harboring novel loss-of-function variants. Both polygenic risk scores demonstrated that sporadic SCAD cases have a significantly elevated genetic SCAD risk compared with controls.

conclusionsSCAD shares some genetic overlap with CTD, even in the absence of any major CTD phenotype. Consistent with a complex genetic architecture, SCAD patients also have a higher burden of common variants than controls.

Indexed as

Acute Coronary SyndromeCoronary Vessel AnomaliesVascular DiseasesFemaleHumansacute coronary syndromeconnective tissuegenetic predisposition to diseasegenomephenotype

Identifiers

PMID35583931
PMCPMC9388555
OpenAlexW4280509541

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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.