SynthesisNature genetics2011
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
Synthesis in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01322165 (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions), which is not on this map. Cited by 108 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Who cites it
108 citing papers in PubMed, 6 syntheses or guidelines pooled it, 216 citations in OpenAlex.
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- X-linked genetic associations in sporadic thoracic aortic dissection.American journal of medical genetics. Part A · 2024Pooled it
- Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.Arteriosclerosis, thrombosis, and vascular biology · 2022Pooled it
- Genome-wide analysis yields new loci associating with aortic valve stenosis.Nature communications · 2018Pooled it
- Consideration of Sex Differences in Design and Reporting of Experimental Arterial Pathology Studies-Statement From ATVB Council.Arteriosclerosis, thrombosis, and vascular biology · 2018Guideline
- Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.American journal of human genetics · 2014Pooled it
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Relationship between sleep characteristics and aortic aneurysm/dissection: a two-sample Mendelian randomisation study.BMJ open · 2025Article
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- DNA methylation dynamics play crucial roles in shaping the distinct transcriptomic profiles for different root-type initiation in rice.Genome biology · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Review
- Integrated analyses of Mendelian randomization, eQTL, and single-cell transcriptome identify CCN3 as a potential biomarker in aortic dissection.Scientific reports · 2024Article
- 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
- Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.Basic research in cardiology · 2024Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024Review
- Association of polymorphisms inOpen medicine (Warsaw, Poland) · 2024Article
48 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 9 institutions in 1 country.
Funding
Abstract
Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6-1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P < 1 × 10(-5) in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD.
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What OpenQuestion holds
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.