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Article

Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.

Deutsches Arzteblatt international - 19 Sept 2025

Riccio Cristian, Arnold Natalie, Koliopanos Georgios, Link Vivian, Guo Linlin, Betschart Raphael O, Zeller Tanja, Blankenberg Stefan, Ziegler Andreas, Twerenbold Raphael

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is among the more common monogenic diseases, yet population-based data on genetically confirmed FH (genFH) and its association with LDL cholesterol (LDL-C) in Germany are lacking. METHODS: In the Hamburg City Health Study (registration: Clinical Trials.gov, NCT03934957), five FH-associated genes were exam - ined for pathogenic mutations with whole genome sequencing...

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Identifiers

PMID: 40560421
DOI: 10.3238/arztebl.m2025.0110
PMCID: PMC12620900

Genes

FH
LDLR

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