ArticleAmerican journal of human genetics2010
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
Article in American journal of human genetics, 2010. 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 55 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
55 citing papers in PubMed, 3 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis.BMC medical genetics · 2012Pooled it
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.Nature genetics · 2011Pooled it
- Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection.Circulation. Genomic and precision medicine · 2021Trial
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Copy number loss Of APP cause thoracic aortic dissection.Hypertension research : official journal of the Japanese Society of Hypertension · 2025Article
- Interpreting MYH11 Copy Number Variation in Thoracic Aortic Aneurysm and Dissection: Insights From the Misannotation of Variants in Clinical Genetic Tests.JACC. Case reports · 2025Article
- Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice.Nature cardiovascular research · 2025Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.PloS one · 2024Article
- Deep sequencing of circulating miRNAs and target mRNAs level in deep venous thrombosis patients.IET systems biology · 2023Article
- Smooth Muscle Heterogeneity and Plasticity in Health and Aortic Aneurysmal Disease.International journal of molecular sciences · 2023Review
- Multi-omics in thoracic aortic aneurysm: the complex road to the simplification.Cell & bioscience · 2023Review
- SERPINE1 Gene Is a Reliable Molecular Marker for the Early Diagnosis of Aortic Dissection.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm.European journal of human genetics : EJHG · 2021Article
- Weighted miRNA co-expression network reveals potential roles of apoptosis related pathways and crucial genes in thoracic aortic aneurysm.Journal of thoracic disease · 2021Article
- Analysis of Hub Genes and the Mechanism of Immune Infiltration in Stanford Type a Aortic Dissection.Frontiers in cardiovascular medicine · 2021Article
- miR-27a regulates vascular remodeling by targeting endothelial cells' apoptosis and interaction with vascular smooth muscle cells in aortic dissection.Theranostics · 2019Article
- Epigenetics in Turner syndrome.Clinical epigenetics · 2018Review
Corrections and comments
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- Erratum issued
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Thoracic aortic aneurysms and dissections (TAAD) cause significant morbidity and mortality, but the genetic origins of TAAD remain largely unknown. In a genome-wide analysis of 418 sporadic TAAD cases, we identified 47 copy number variant (CNV) regions that were enriched in or unique to TAAD patients compared to population controls. Gene ontology, expression profiling, and network analysis showed that genes within TAAD CNVs regulate smooth muscle cell adhesion or contractility and interact with the smooth muscle-specific isoforms of α-actin and β-myosin, which are known to cause familial TAAD when altered. Enrichment of these gene functions in rare CNVs was replicated in independent cohorts with sporadic TAAD (STAAD, n = 387) and inherited TAAD (FTAAD, n = 88). The overall prevalence of rare CNVs (23%) was significantly increased in FTAAD compared with STAAD patients (Fisher's exact test, p = 0.03). Our findings suggest that rare CNVs disrupting smooth muscle adhesion or contraction contribute to both sporadic and familial disease.
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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.