ArticleScientific reports2015
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 19 citations in OpenAlex.
- Unpredictable Aortic Behavior in Identifying Risk Factors for Reintervention: A Prospective Cohort Study.The Thoracic and cardiovascular surgeon · 2025Observational
- A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in theFrontiers in molecular biosciences · 2025Article
- Multi-omics in thoracic aortic aneurysm: the complex road to the simplification.Cell & bioscience · 2023Review
- Smooth Muscle Heterogeneity and Plasticity in Health and Aortic Aneurysmal Disease.International journal of molecular sciences · 2023Review
- Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.Journal of thoracic disease · 2021Article
- Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.Diagnostics (Basel, Switzerland) · 2021Review
- Molecular pathogenesis of genetic and sporadic aortic aneurysms and dissections.Current problems in surgery · 2017Review
- Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.BMC medical genetics · 2016Article
- Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.Scientific reports · 2016Article
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Authors and funding
12 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Genetic etiology in majority of patients with sporadic thoracic aortic aneurysm and dissections (STAAD) remains unknown. Recent GWAS study suggested common variant(s) in FBN1 is associated with STAAD. The present study aims to test this hypothesis and to identify mutation spectrum by targeted exome sequencing of the FBN1 gene in 146 unrelated patients with STAAD. Totally, 15.75% of FBN1 variants in STAAD were identified, including 5 disruptive and 18 missense mutations. Most of the variants were novel. Genotype-phenotype correlation analysis suggested that the maximum aortic diameter in the disruptive mutation group was significantly larger than that in the non-Cys missense mutation group. Interestingly, the variant Ala27Thr at -1 position, which is predicted to change the cleavage site of the signal peptidase of fibrillin-1, was detected in two unrelated patients. Furthermore, genotyping analysis of this variant detected 10 heterozygous Ala27Thr from additional 666 unrelated patients (1.50%), versus 7 from 1500 controls (0.47%), indicating a significant association of this variant with STAAD. Collectively, the identification of the variant Ala27Thr may represent a relatively common genetic predisposition and a novel pathogenetic mechanism for STAAD. Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD.
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