Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
cardiovascular diseases
cholesterol, LDL
coronary artery disease
hypercholesterolemia
phenotype
Journal
Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113
Informations de publication
Date de publication:
20 Mar 2024
20 Mar 2024
Historique:
medline:
20
3
2024
pubmed:
20
3
2024
entrez:
20
3
2024
Statut:
aheadofprint
Résumé
Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the This retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022. A total of 91 637 tests were performed on women identifying as Asian (8.8%), Black (6.1%), Hispanic (8.5%), White (29.0%), multiple or other race/ethnicity (15.0%), and missing (33.0%). Median age was 32.8 years with 83 728 (91%) <40 years. P/LP P/LP variants in
Sections du résumé
BACKGROUND
UNASSIGNED
Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the
METHODS
UNASSIGNED
This retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022.
RESULTS
UNASSIGNED
A total of 91 637 tests were performed on women identifying as Asian (8.8%), Black (6.1%), Hispanic (8.5%), White (29.0%), multiple or other race/ethnicity (15.0%), and missing (33.0%). Median age was 32.8 years with 83 728 (91%) <40 years. P/LP
CONCLUSIONS
UNASSIGNED
P/LP variants in
Identifiants
pubmed: 38506081
doi: 10.1161/CIRCGEN.123.004457
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM