Related Experiment Video
Updated: May 30, 2025
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Closure of a Patent Foramen Ovale PFO: An Intervention Sequence
Published on: December 23, 2022
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Genetic variation in patent foramen ovale: a case-control genome-wide association study
Bosi Dong1, Yajiao Li2, Fandi Ai3
1Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Frontiers in Genetics
|January 28, 2025
Summary
This study identified genetic variants associated with patent foramen ovale (PFO), a congenital heart defect. These findings offer insights into PFO pathogenesis and heart development.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Patent foramen ovale (PFO) is a congenital heart defect characterized by abnormal atrial hemodynamics.
- Genetic factors are implicated in the etiology of PFO, but specific common variants remain largely unidentified.
Purpose of the Study:
- To conduct a genome-wide association study (GWAS) to identify common genetic variants associated with PFO.
- To explore the role of these variants in heart development.
Main Methods:
- Whole genome sequencing was performed on a discovery cohort of 3,227 Chinese participants with PFO.
- Associated single-nucleotide polymorphisms (SNPs) were validated, and expression quantitative trait loci (eQTL) analysis was conducted.
- Single-cell sequencing was used to evaluate gene expression during human fetal heart development.
Main Results:
- Four high-risk variants (rs1227675732, rs62206790, rs879176184, rs13115019) and one protective variant (rs57922961) for PFO were identified.
- These variants were replicated in an independent validation cohort.
- Single-cell sequencing revealed significant expression changes in genes such as CNOT2, KCNMB4, MLLT10, IGBP1, and FRG1 during heart development.
Conclusions:
- The identified genetic loci provide potential insights into the pathogenesis of PFO.
- This research contributes to a better understanding of the genetic basis of heart development.
Keywords:
common variantsgenome-wide association studyheart developmentpatent foramen ovalesingle-cell sequencingMore Related Videos
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