ArticlePloS one2014
Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 31 citations in OpenAlex.
- Analysis ofInternational journal of molecular sciences · 2025Article
- Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.Basic research in cardiology · 2024Review
- Association of polymorphisms inOpen medicine (Warsaw, Poland) · 2024Article
- Association of gene polymorphisms in FBN1 and TGF-β signaling with the susceptibility and prognostic outcomes of Stanford type B aortic dissection.BMC medical genomics · 2022Article
- Circulating fibrillin fragment concentrations in patients with and without aortic pathology.JVS-vascular science · 2022Article
- Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.The Journal of cardiovascular surgery · 2021Review
- Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.Diagnostics (Basel, Switzerland) · 2021Review
- [Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2020Article
- Human aortic aneurysm genomic dictionary: is it possible?Indian journal of thoracic and cardiovascular surgery · 2019Article
- Genetics of the extracellular matrix in aortic aneurysmal diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Article
- Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.BMC musculoskeletal disorders · 2016Review
- Association betweenMolecular medicine (Cambridge, Mass.) · 2015Article
- Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?The Journal of thoracic and cardiovascular surgery · 2015Review
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Authors and funding
13 authors at 5 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
objectivesA recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the FBN-1 gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study.
methodsThe genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension. RESULTS AND
conclusionsIn the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.15-2.80) and they had odds ratio for TAD of 1.87 (95% CI 1.09-3.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. Thus, the Yale study provided further support for the association of the FBN-1 rs2118181SNP with TAD.
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