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Article

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic and precision medicine - 1 Apr 2022

Coassin Stefan, Chemello Kevin, Khantalin Ilya, Forer Lukas, Döttelmayer Patricia, Schönherr Sebastian, Grüneis Rebecca, Chong-Hong-Fong Clément, Nativel Brice, Ramin-Mangata Stéphane, Gallo Antonio, Roche Mathias, Muelegger Beatrix, Gieger Christian, Peters Annette, Zschocke Johannes, Marimoutou Catherine, Meilhac Olivier, Lamina Claudia, Kronenberg Florian, Blanchard Valentin, Lambert Gilles

Abstract excerpt

BACKGROUND: Lp(a) (lipoprotein [a]) is a highly atherogenic lipoprotein strongly associated with coronary artery disease (CAD). Lp(a) concentrations are chiefly determined genetically. Investigation of large pedigrees with extreme Lp(a) using modern whole-genome approaches may unravel the genetic determinants underpinning this pathological phenotype. METHODS: A large family characterized by high Lp(a) and...

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Identifiers

PMID: 35133173
DOI: 10.1161/CIRCGEN.121.003489
PMCID: PMC9018215

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