Methylation status of <i>LDLR</i>, <i>PCSK9</i> and <i>LDLRAP1</i> is associated with cardiovascular events in familial hypercholesterolemia.

ABSTRACT: Aim: Methylation of LDLR, PCSK9 and LDLRAP1 CpG sites was assessed in patients with familial hypercholesterolemia (FH). Methods: DNA methylation of was analyzed by pyrosequencing in 131 FH patients and 23 normolipidemic (NL) subjects.Results:  LDLR, PCSK9 and LDLRP1 methylation was similar between FH patients positive (MD) and negative (non-MD) for pathogenic variants in FH-related genes. LDLR and PCSK9 methylation was higher in MD and non-MD groups than NL subjects (p < 0.05). LDLR, PCSK9 and LDLRAP1 methylation profiles were associated with clinical manifestations and cardiovascular events in FH patients (p < 0.05).Conclusion: Differential methylation of LDLR,

SUBMITTER: Silva Rodrigues Marcal ED 

PROVIDER: S-EPMC11370914 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature