A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin

Autor:	Luis G. Leal, Clive Hoggart, Marjo‐Riitta Jarvelin, Karl‐Heinz Herzig, Michael J. E. Sternberg, Alessia David
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	hypercholesterolemia lipids polygenic risk score risk stratification Genetics QH426-470
Zdroj:	Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Druh dokumentu:	article
ISSN:	2324-9269
DOI:	10.1002/mgg3.1248
Popis:	Abstract 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 = 10–41). After risk categorization, the risk of having HC was higher in the high‐ versus low‐risk group (RR = 4.17, p
Databáze:	Directory of Open Access Journals
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