Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores.
coronary artery disease (CAD)
disease genetic risk
polygenic risk score (PRS)
population heterogeneity
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
26 Sep 2024
26 Sep 2024
Historique:
received:
30
08
2024
revised:
16
09
2024
accepted:
24
09
2024
medline:
25
10
2024
pubmed:
25
10
2024
entrez:
25
10
2024
Statut:
epublish
Résumé
The identification of coronary artery disease (CAD) high-risk individuals is a major clinical need for timely diagnosis and intervention. Many different polygenic scores (PGSs) for CAD risk are available today to estimate the genetic risk. It is necessary to carefully choose the score to use, in particular for studies on populations, which are not adequately represented in the large datasets of European biobanks, such as the Italian one. This work aimed to analyze which PGS had the best performance within the Italian population. We used two Italian independent cohorts: the EPICOR case-control study (576 individuals) and the Atherosclerosis, Thrombosis, and Vascular Biology (ATVB) Italian study (3359 individuals). We evaluated 266 PGS for cardiovascular disease risk from the PGS Catalog, selecting 51 for CAD. Distributions between patients and controls were significantly different for 49 scores ( European CAD PGS could have different risk estimates in peculiar populations, such as the Italian one, as well as in various geographical macro areas. Therefore, further evaluation is recommended for clinical applicability.
Sections du résumé
BACKGROUND/OBJECTIVES
OBJECTIVE
The identification of coronary artery disease (CAD) high-risk individuals is a major clinical need for timely diagnosis and intervention. Many different polygenic scores (PGSs) for CAD risk are available today to estimate the genetic risk. It is necessary to carefully choose the score to use, in particular for studies on populations, which are not adequately represented in the large datasets of European biobanks, such as the Italian one. This work aimed to analyze which PGS had the best performance within the Italian population.
METHODS
METHODS
We used two Italian independent cohorts: the EPICOR case-control study (576 individuals) and the Atherosclerosis, Thrombosis, and Vascular Biology (ATVB) Italian study (3359 individuals). We evaluated 266 PGS for cardiovascular disease risk from the PGS Catalog, selecting 51 for CAD.
RESULTS
RESULTS
Distributions between patients and controls were significantly different for 49 scores (
CONCLUSIONS
CONCLUSIONS
European CAD PGS could have different risk estimates in peculiar populations, such as the Italian one, as well as in various geographical macro areas. Therefore, further evaluation is recommended for clinical applicability.
Identifiants
pubmed: 39452533
pii: jpm14101025
doi: 10.3390/jpm14101025
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : D15D18000410001
Organisme : European Union's Horizon 2020 research and innovation programme
ID : 101016775