ArticleStroke2009
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
Article in Stroke, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility: A Meta-Analysis.Medicine · 2015Pooled it
- A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.European journal of human genetics : EJHG · 2014Trial
- Elevated Expression ofBiomedicines · 2025Article
- Impact of the Transforming Growth Factor β (TGF-β) on Brain Aneurysm Formation and Development: A Literature Review.Cellular and molecular neurobiology · 2025Review
- TGFBR3 dependent mechanism of TGFB2 in smooth muscle cell differentiation and implications for TGFB2-related aortic aneurysm.Stem cells translational medicine · 2025Article
- Comprehensive molecular analyses of an autoimmune-related gene predictive model and immune infiltrations using machine learning methods in intracranial aneurysma.Frontiers in immunology · 2025Article
- Prevalence and Characteristics of Intracranial Aneurysms in Hereditary Hemorrhagic Telangiectasia.AJNR. American journal of neuroradiology · 2023Article
- Identifying pyroptosis- and inflammation-related genes in intracranial aneurysms based on bioinformatics analysis.Biological research · 2023Article
- Altered MicroRNA Expression in Intracranial Aneurysmal Tissues: Possible Role in TGF-β Signaling Pathway.Cellular and molecular neurobiology · 2022Article
- Role of activin receptor-like kinase 1 in vascular development and cerebrovascular diseases.Neural regeneration research · 2020Review
- Osteoprotegerin Prevents Intracranial Aneurysm Progression by Promoting Collagen Biosynthesis and Vascular Smooth Muscle Cell Proliferation.Journal of the American Heart Association · 2020Article
- Transforming Growth Factor Beta Receptor 3 Haplotypes in Sickle Cell Disease Are Associated with Lipid Profile and Clinical Manifestations.Mediators of inflammation · 2020Article
- Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms.Neuromolecular medicine · 2019Review
- Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.Journal of clinical medicine · 2019Article
- Inflammatory mediators in vascular disease: identifying promising targets for intracranial aneurysm research.Mediators of inflammation · 2015Review
- Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.BMC medical genetics · 2013Article
- The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).Current hypertension reviews · 2013Review
- Transforming growth factor beta signaling in adult cardiovascular diseases and repair.Cell and tissue research · 2012Review
- Article
- Association of the TGF-beta receptor genes with abdominal aortic aneurysm.European journal of human genetics : EJHG · 2010Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
background and purposeFamilial aggregation of intracranial aneurysms (IA) strongly suggests a genetic contribution to pathogenesis. However, genetic risk factors have yet to be defined. For families affected by aortic aneurysms, specific gene variants have been identified, many affecting the receptors to transforming growth factor-beta (TGF-beta). In recent work, we found that aortic and intracranial aneurysms may share a common genetic basis in some families. We hypothesized, therefore, that mutations in TGF-beta receptors might also play a role in IA pathogenesis.
methodsTo identify genetic variants in TGF-beta and its receptors, TGFB1, TGFBR1, TGFBR2, ACVR1, TGFBR3, and ENG were directly sequenced in 44 unrelated patients with familial IA. Novel variants were confirmed by restriction digestion analyses, and allele frequencies were analyzed in cases versus individuals without known intracranial disease. Similarly, allele frequencies of a subset of known SNPs in each gene were also analyzed for association with IA.
resultsNo mutations were found in TGFB1, TGFBR1, TGFBR2, or ACVR1. Novel variants identified in ENG (p.A60E) and TGFBR3 (p.W112R) were not detected in at least 892 reference chromosomes. ENG p.A60E showed significant association with familial IA in case-control studies (P=0.0080). No association with IA could be found for any of the known polymorphisms tested.
conclusionsMutations in TGF-beta receptor genes are not a major cause of IA. However, we identified rare variants in ENG and TGFBR3 that may be important for IA pathogenesis in a subset of families.
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