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Article

LDLR gene's promoter region hypermethylation in patients with familial hypercholesterolemia.

Scientific reports - 7 Jun 2023

Zorzo R A, Suen V M M, Santos J E, Silva-Jr W A, Suazo V K, Honorato A L S C, Santos R D, Jannes C E, Pereira A, Krieger J E, Liberatore-Jr R D R

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein cholesterol (LDL-C) levels and a high risk of early coronary heart disease. Structural alterations in the LDLR, APOB, and PCSK9 genes were not found in 20-40% of patients diagnosed using the Dutch Lipid Clinic Network (DCLN) criteria. We hypothesized that methylation in canonical genes could explain the origin of the phenotype in...

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Share to Apolipoproteins B
Share to Cholesterol, HDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Mutation

Share to Phenotype

Share to Promoter Regions, Genetic

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

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Identifiers

PMID: 37286669
DOI: 10.1038/s41598-023-34639-1
PMCID: PMC10247769

Provenance

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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