Functional Analysis of 3'UTR Variants at the <i>LDLR</i> and <i>PCSK9</i> Genes in Patients with Familial Hypercholesterolemia.

ABSTRACT: Familial hypercholesterolemia (FH) is an autosomal dominant disease with an estimated prevalence of 1 in 200-250 individuals. Patients with FH are at increased risk of premature coronary artery disease. Early diagnosis and treatment are essential for improving clinical outcomes. In many cases, however, the genetic diagnosis is not confirmed. At present, routine genetic testing does not analyze the 3'UTR regions of LDLR and PCSK9. However, 3'UTR-single nucleotide variants could be of interest because they can modify the target sequence of miRNAs that regulate the expression of these genes. Our study fully characterizes the 3'UTR regions of LDLR and PCSK9 in 409 patients with a suspected diagnosis of FH using next-generation sequencing. In 30 of the 409 patients,

SUBMITTER: Sanguino Otero J 

PROVIDER: S-EPMC11918801 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature