ArticleHuman genetics2007
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 3 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 3 syntheses or guidelines pooled it, 181 citations in OpenAlex.
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Family screening for bicuspid aortic valve and aortic dilatation: a meta-analysis.European heart journal · 2023Pooled it
- Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy.Interactive cardiovascular and thoracic surgery · 2013Pooled it
- Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies.Journal of cardiovascular development and disease · 2026Review
- Multiple arterial aneurysms involving the thoracoabdominal aorta and renal arteries in a young patient with possible heritable etiology: Two-stage open surgical repair management.Journal of vascular surgery cases and innovative techniques · 2026Article
- Advances in Pathophysiological Mechanisms of Degenerative Aortic Valve Disease.Cardiology research · 2025Review
- Machine Learning Analysis of Facial Photographs for Predicting Bicuspid Aortic Valve.Mayo Clinic proceedings. Digital health · 2024Article
- Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.Disease models & mechanisms · 2024Article
- Intricate MIB1-NOTCH-GATA6 Interactions in Cardiac Valvular and Septal Development.Journal of cardiovascular development and disease · 2024Article
- Human Genetics of Hypoplastic Left Heart Syndrome.Advances in experimental medicine and biology · 2024Article
- Valvular heart disease and cardiomyopathy: reappraisal of their interplay.Nature reviews. Cardiology · 2024Review
- Implications of Bicuspid Aortic Valve Disease and Aortic Stenosis/Insufficiency as Risk Factors for Thoracic Aortic Aneurysm.Reviews in cardiovascular medicine · 2023Review
- CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.Human genetics · 2023Article
- Bicuspid Aortic Valve-Associated Regulatory Regions RevealArteriosclerosis, thrombosis, and vascular biology · 2023Article
- Patients with Bicuspid Aortopathy and Aortic Dilatation.Journal of clinical medicine · 2022Review
- Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome.World journal for pediatric & congenital heart surgery · 2022Article
- Point on the Aortic Bicuspid Valve.Life (Basel, Switzerland) · 2022Review
- Current state of the art in hypoplastic left heart syndrome.Frontiers in cardiovascular medicine · 2022Review
- Bicuspid Aortic Valve: Genetic and Clinical Insights.Aorta (Stamford, Conn.) · 2021Article
- Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.HGG advances · 2021Article
12 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
9 authors at 3 institutions in 2 countries.
Funding
Abstract
The aim of this study was to identify regions of the genome that harbor genes influencing inheritance of bicuspid aortic valve (BAV) and/or associated cardiovascular malformation (CVM). Aortic valve disease is an important clinical problem, which often results in valve replacement, the second most common cardiac surgery in the United States. In every age group, a majority of cases of valve disease involves a BAV. BAV is the most common CVM with a reported prevalence of 1-2%. Heritability studies indicate that BAV determination is almost entirely genetic. We used a family-based genome-wide linkage analysis with microsatellite markers. Parametric and nonparametric analyses were performed with the software GENEHUNTER and SOLAR (Sequential Oligogenic Linkage Analysis Routines). Thirty-eight families (353 subjects) with BAV and/or associated CVM were assessed. Each participant underwent a standardized echocardiographic examination. The highest LOD score, 3.8, occurred on chromosome 18q between markers D18S68 and D18S1161. Two other chromosomal regions, 5q15-21 (between D5S644 and D5S2027) and 13q33-qter (between D13S1265 and 13qter), exhibited suggestive evidence of linkage (LOD > 2.0). Further, two previously reported linkage peaks on 9q34 and 17q24 were replicated in family specific analyses. No significant X chromosome linkage peaks were identified. In this genome-wide scan we demonstrate for the first time, that BAV and/or associated CVM exhibit linkage to chromosomes 18q, 5q and 13q. These regions likely contain genes whose mutation results in BAV and/or associated CVM indicating their important role in valvulogenesis and cardiac development.
Indexed as
Identifiers
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.