Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways.
acute coronary syndrome
co-segregation analysis
collagen genes
myocardial infarction
spontaneous coronary artery dissection
whole-genome sequencing
Journal
Journal of cardiovascular development and disease
ISSN: 2308-3425
Titre abrégé: J Cardiovasc Dev Dis
Pays: Switzerland
ID NLM: 101651414
Informations de publication
Date de publication:
12 Sep 2023
12 Sep 2023
Historique:
received:
11
08
2023
accepted:
08
09
2023
medline:
27
9
2023
pubmed:
27
9
2023
entrez:
27
9
2023
Statut:
epublish
Résumé
Rare familial spontaneous coronary artery dissection (SCAD) kindreds implicate genetic disease predisposition and provide a unique opportunity for candidate gene discovery. Whole-genome sequencing was performed in fifteen probands with non-syndromic SCAD who had a relative with SCAD, eight of whom had a second relative with extra-coronary arteriopathy. Co-segregating variants and associated genes were prioritized by quantitative variant, gene, and disease-level metrics. Curated public databases were queried for functional relationships among encoded proteins. Fifty-four heterozygous coding variants in thirteen families co-segregated with disease and fulfilled primary filters of rarity, gene variation constraint, and predicted-deleterious protein effect. Secondary filters yielded 11 prioritized candidate genes in 12 families, with high arterial tissue expression (
Identifiants
pubmed: 37754822
pii: jcdd10090393
doi: 10.3390/jcdd10090393
pmc: PMC10532385
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM072474
Pays : United States
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