ArticleFrontiers in genetics2024
A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders.
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07349004 (Association Between PFO and Migraine With Aura), which is not on this map. Cited by 5 papers.
What it found
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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.
Association Between PFO and Migraine With Aura: A Case-Control Observational Study With Genetic and Neurosonological Analysis
Who cites it
5 citing papers in PubMed.
- Patent Foramen Ovale: Epidemiology, Risk Factors, Pathophysiology, Clinical Features, Diagnosis, and Management.MedComm · 2026Review
- A novel NKX2-5 mutation causing atrial septal defect and high-degree atrioventricular block in a Chinese family.ESC heart failure · 2026Article
- Clinical research progress on pathogenesis and treatment of Patent Foramen Ovale-associated stroke.Frontiers in neurology · 2025Review
- Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.Frontiers in genetics · 2025Article
- Genetic variation in patent foramen ovale: a case-control genome-wide association study.Frontiers in genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Patent foramen ovale (PFO) has a genetic predisposition and is closely associated with cryptogenic stroke (CS), migraine, decompression sickness, and hypoxemia. Identifying PFO-related mutant genes through whole-exome sequencing (WES) can help in the early recognition of cardiovascular genetic risk factors, guide timely clinical intervention, and reduce the occurrence of cardiovascular events. Methods: We analyzed mutant genes from ClinVar and OMIM databases. WES was performed on 25 PFO patients from Zhejiang Provincial Hospital of Chinese Medicine. Pathogenicity of variants was evaluated using American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology. (AMP) guidelines. Results: In ClinVar (4 Feb 2023), 113 coding gene mutations were found, including 83 associated with PFO. From OMIM (18 Apr 2023), 184 gene mutations were analyzed, with 110 mutant coding genes. WES identified pathogenic mutations in two of 25 PFO patients (8%). LDLR, SDHC, and NKX2-5 genes were linked to PFO and primarily involved in myocardial tissue function. NKX2-5 may play a crucial role in PFO development, interacting with NOTCH1, GATA4, MYH6, SCN5A signaling pathways regulating cardiomyocyte characteristics. Conclusion: We identified pathogenic mutations in LDLR, SDHC, and NKX2-5 genes, implying their role in PFO development. Functional enrichment analysis revealed NKX2-5's interaction with signaling pathways regulating cardiomyocyte function. These findings enhance our understanding of PFO's genetic basis, suggesting potential therapeutic targets for future research.
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