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Article

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

Molecular genetics & genomic medicine - 1 Jun 2020

Leal Luis G, Hoggart Clive, Jarvelin Marjo-Riitta, Herzig Karl-Heinz, Sternberg Michael J E, David Alessia

Abstract excerpt

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,...

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Identifiers

PMID: 32307928
DOI: 10.1002/mgg3.1248
PMCID: PMC7284038

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