Differential DNA methylation in familial hypercholesterolemia

LF Reeskamp, A Venema, JPB Pereira, E Levin… - …, 2020 - thelancet.com
Background Familial hypercholesterolemia (FH) is a monogenic disorder characterized by
elevated low-density lipoprotein cholesterol (LDL-C). A FH causing genetic variant in LDLR …

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

RA Zorzo, VMM Suen, JE Santos, WA Silva-Jr… - Scientific reports, 2023 - nature.com
Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein
cholesterol (LDL-C) levels and a high risk of early coronary heart disease. Structural …

DNA methylation variations at CETP and LPL gene promoter loci: new molecular biomarkers associated with blood lipid profile variability

SP Guay, D Brisson, B Lamarche, P Marceau, MC Vohl… - Atherosclerosis, 2013 - Elsevier
BACKGROUND: Recent findings suggest that DNA methylation, a well-known epigenetic
mechanism, is involved in high-density lipoprotein cholesterol (HDL-C) metabolism and …

Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration

SP Guay, G Voisin, D Brisson, J Munger… - …, 2012 - Taylor & Francis
Aim: This study aims to assess whether epigenetic changes may account for high-density
lipoprotein cholesterol (HDL-C) level variability in familial hypercholesterolemia (FH), a …

Methylation status of LDLR, PCSK9 and LDLRAP1 is associated with cardiovascular events in familial hypercholesterolemia

E Silva Rodrigues Marçal, JB Borges, GM Bastos… - …, 2024 - Taylor & Francis
Aim: Methylation of LDLR, PCSK9 and LDLRAP1 CpG sites was assessed in patients with
familial hypercholesterolemia (FH). Methods: DNA methylation of was analyzed by …

Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia

SP Guay, D Brisson, B Lamarche, D Gaudet… - Epigenetics, 2014 - Taylor & Francis
Gene polymorphisms associated so far with plasma lipid concentrations explain only a
fraction of their heritability, which can reach up to 60%. Recent studies suggest that …

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

M Futema, V Plagnol, KW Li, RA Whittall… - Journal of medical …, 2014 - jmg.bmj.com
Background Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …

Targeted genetic analysis in a Chinese cohort of 208 patients related to familial hypercholesterolemia

H Wang, H Yang, Z Liu, K Cui, Y Zhang… - … of Atherosclerosis and …, 2020 - jstage.jst.go.jp
Aim: Familial hypercholesterolemia (FH) is the most commonly encountered genetic
condition that predisposes individuals to severe autosomal dominant lipid metabolism …

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing

JB Borges, VF Oliveira, C Dagli-Hernandez… - Gene, 2023 - Elsevier
Familial hypercholesterolemia (FH) is a monogenic disease characterized by high plasma
low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature …

Atherosclerosis: cell biology and lipoproteins–panoramic views of DNA methylation landscapes of atherosclerosis

S Zaina, G Lund - Current opinion in lipidology, 2013 - journals.lww.com
During the last 2 years, the cardiovascular disease (CVD) field has increasingly embraced
epigenomics technologies. This ménage is a young one in comparison with cancer studies …