Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve Article Swipe
Steven Grant Carlisle
,
Hasan Albasha
,
Héctor I. Michelena
,
Anna Sabaté-Rotés
,
Lisa Bianco
,
Julie De Backer
,
Laura Muiño Mosquera
,
Anji T. Yetman
,
Malenka M. Bissell
,
Maria Grazia Andreassi
,
Ilenia Foffa
,
Dawn S. Hui
,
Anthony Caffarelli
,
Yuli Y. Kim
,
Dongchuan Guo
,
Rodolfo Citro
,
Margot De Marco
,
Justin T. Tretter
,
Kim L. McBride
,
Dianna M. Milewicz
,
Simon C. Body
,
Siddharth K. Prakash
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pone.0304514
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pone.0304514
Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 9% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV.
Related Topics
Concepts
Bicuspid aortic valve
Copy-number variation
Candidate gene
Proband
Genetics
Aortic valve
SNP array
Thoracic aortic aneurysm
Genome-wide association study
Biology
Medicine
Genotype
Aortic aneurysm
Single-nucleotide polymorphism
Gene
Internal medicine
Genome
Mutation
Aorta
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1371/journal.pone.0304514
- OA Status
- gold
- Cited By
- 5
- References
- 54
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4402301867
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4402301867Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1371/journal.pone.0304514Digital Object Identifier
- Title
-
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valveWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-09-06Full publication date if available
- Authors
-
Steven Grant Carlisle, Hasan Albasha, Héctor I. Michelena, Anna Sabaté-Rotés, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T. Yetman, Malenka M. Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S. Hui, Anthony Caffarelli, Yuli Y. Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T. Tretter, Kim L. McBride, Dianna M. Milewicz, Simon C. Body, Siddharth K. PrakashList of authors in order
- Landing page
-
https://doi.org/10.1371/journal.pone.0304514Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1371/journal.pone.0304514Direct OA link when available
- Concepts
-
Bicuspid aortic valve, Copy-number variation, Candidate gene, Proband, Genetics, Aortic valve, SNP array, Thoracic aortic aneurysm, Genome-wide association study, Biology, Medicine, Genotype, Aortic aneurysm, Single-nucleotide polymorphism, Gene, Internal medicine, Genome, Mutation, AortaTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
5Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 1Per-year citation counts (last 5 years)
- References (count)
-
54Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.8355373 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |