A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.

doi:10.1016/j.trsl.2022.12.002

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Article

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.

Translational research : the journal of laboratory and clinical medicine - 1 May 2023

Vanhoye Xavier, Bardel Claire, Rimbert Antoine, Moulin Philippe, Rollat-Farnier Pierre-Antoine, Muntaner Manon, Marmontel Oriane, Dumont Sabrina, Charrière Sybil, Cornélis François, Ducluzeau Pierre Henri, Fonteille Annie, Nobecourt Estelle, Peretti Noël, Schillo Franck, Wargny Matthieu, Cariou Bertrand, Meirhaeghe Aline, Di Filippo Mathilde

Abstract excerpt

Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a growing evidence that a polygenic burden significantly modulates LDL-cholesterol (LDL-c) concentrations. Several LDL-c polygenic risk scores (PRS) have been set up. However, the balance between their diagnosis performance and their practical use in routine...

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PMID: 36528340
DOI: 10.1016/j.trsl.2022.12.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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