ArticleCirculation. Genomic and precision medicine2019
Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.
Article in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)
The "Virtual" Multicenter Spontaneous Coronary Artery Dissection (SCAD) Registry
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.European journal of human genetics : EJHG · 2026Pooled it
- Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection.Circulation. Genomic and precision medicine · 2021Trial
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Spontaneous Coronary Artery Dissection (SCAD): Unveiling the Enigma of the Unexpected Coronary Event.Current atherosclerosis reports · 2025Review
- Hippo in smooth muscle - a therapeutic target in vascular diseases driven by aging and hypertension.Frontiers in physiology · 2025Review
- Article
- Spontaneous Coronary Artery Dissection: Current Knowledge, Research Gaps, and Innovative Research Initiatives:JACC. Advances · 2024Review
- Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease.Human molecular genetics · 2024Article
- Cellular stiffness sensing through talin 1 in tissue mechanical homeostasis.Science advances · 2024Article
- From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction.Current atherosclerosis reports · 2024Review
- Spontaneous Coronary Artery Dissection in Clinical Practice: Pathophysiology and Therapeutic Approaches.Medicina (Kaunas, Lithuania) · 2024Review
- Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.Frontiers in cardiovascular medicine · 2024Article
- Advancements in the Genetics of Spontaneous Coronary Artery Dissection.Current cardiology reports · 2023Review
- Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways.Journal of cardiovascular development and disease · 2023Article
- Genetics of spontaneous cervical and coronary artery dissections.Frontiers in global women's health · 2023Review
- Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms.Human molecular genetics · 2022Article
- The mechanical cell - the role of force dependencies in synchronising protein interaction networks.Journal of cell science · 2022Review
- Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.Circulation. Genomic and precision medicine · 2022Article
- Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.American journal of medical genetics. Part A · 2022Article
- Association of Circulating Cathepsin B Levels With Blood Pressure and Aortic Dilation.Frontiers in cardiovascular medicine · 2022Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundSpontaneous coronary artery dissection (SCAD) is an uncommon idiopathic disorder predominantly affecting young, otherwise healthy women. Rare familial cases reveal a genetic predisposition to disease. The aim of this study was to identify a novel susceptibility gene for SCAD.
methodsWhole-exome sequencing was performed in a family comprised of 3 affected individuals and filtered to identify rare, predicted deleterious, segregating variants. Immunohistochemical staining was used to evaluate protein expression of the identified candidate gene. The prevalence and spectrum of rare (<0.1%) variants within binding domains was determined by next-generation sequencing or denaturing high-performance liquid chromatography in a sporadic SCAD cohort of 675 unrelated individuals.
resultsWe identified a rare heterozygous missense variant within a highly conserved β-integrin-binding domain of TLN1 segregating with familial SCAD. TLN1 encodes talin 1-a large cytoplasmic protein of the integrin adhesion complex that links the actin cytoskeleton and extracellular matrix. Consistent with high mRNA expression in arterial tissues, robust immunohistochemical staining of talin 1 was demonstrated in coronary arteries. Nine additional rare heterozygous missense variants in TLN1 were identified in 10 sporadic cases. Incomplete penetrance, suggesting genetic or environmental modifiers of this episodic disorder, was evident in the familial case and 5 individuals with sporadic SCAD from whom parental DNA was available.
conclusionsOur findings reveal TLN1 as a disease-associated gene in familial and sporadic SCAD and, together with abnormal vascular phenotypes reported in animal models of talin 1 disruption, implicate impaired structural integrity of the coronary artery cytoskeleton in SCAD susceptibility.
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Registered trials
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.