A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.
hypercholesterolemia
lipids
polygenic risk score
risk stratification
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
04
12
2019
revised:
24
02
2020
accepted:
02
03
2020
pubmed:
21
4
2020
medline:
14
4
2021
entrez:
21
4
2020
Statut:
ppublish
Résumé
Severe hypercholesterolemia (HC, LDL-C > 4.9 mmol/L) affects over 30 million people worldwide. In this study, we validated a new polygenic risk score (PRS) for LDL-C. Summary statistics from the Global Lipid Genome Consortium and genotype data from two large populations were used. A 36-SNP PRS was generated using data for 2,197 white Americans. In a replication cohort of 4,787 Finns, the PRS was strongly associated with the LDL-C trait and explained 8% of its variability (p = 10 The new PRS has a better predictive role in identifying HC of polygenic origin compared to the currently available method and can better stratify patients into diagnostic and therapeutic algorithms.
Sections du résumé
BACKGROUND
Severe hypercholesterolemia (HC, LDL-C > 4.9 mmol/L) affects over 30 million people worldwide. In this study, we validated a new polygenic risk score (PRS) for LDL-C.
METHODS
Summary statistics from the Global Lipid Genome Consortium and genotype data from two large populations were used.
RESULTS
A 36-SNP PRS was generated using data for 2,197 white Americans. In a replication cohort of 4,787 Finns, the PRS was strongly associated with the LDL-C trait and explained 8% of its variability (p = 10
CONCLUSION
The new PRS has a better predictive role in identifying HC of polygenic origin compared to the currently available method and can better stratify patients into diagnostic and therapeutic algorithms.
Identifiants
pubmed: 32307928
doi: 10.1002/mgg3.1248
pmc: PMC7284038
doi:
Substances chimiques
Cholesterol, LDL
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1248Subventions
Organisme : NIMH NIH HHS
ID : RL1 MH083268
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG004610
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG004608
Pays : United States
Organisme : Medical Research Council
ID : MR/M013138/2
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U01 HG004609
Pays : United States
Organisme : Wellcome Trust
ID : WT/104955/Z/14/Z
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL087679
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG004424
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG004438
Pays : United States
Organisme : Medical Research Council
ID : MR/M013138/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH063706
Pays : United States
Informations de copyright
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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