Resultados: 16

Genetic variant ABCC1 rs45511401 is associated with increased response to statins in patients with familial hypercholesterolemia

Pharmaceutics; 14 (5), 2022
Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is highly variable due to genetic and nongenetic factors. Here, we explored the association between response and genetic variability in 114 Brazilian adult FH patients. Specifically, a panel of 84 genes was analyzed...

Atualização da Diretriz Brasileira de Hipercolesterolemia Familiar – 2021

Arq. bras. cardiol; 117 (4), 2021

Avaliação do conhecimento de médicos especialistas sobre a hipercolesterolemia familiar
Assessment of the knowledge of specialist physicians about familial hypercholesterolemia

Arq. bras. cardiol; 117 (4 supl. 2), 2021
INTRODUÇÃO: A hipercolesterolemia familiar (HF) é uma doença hereditária autossômica codominante marcada por altos níveis de colesterol ligado à lipoproteína de baixa densidade (LDL-c), associando-se a um risco de 10 a 13 vezes maior de desenvolvimento de doença cardiovascular aterosclerótica....

Functional analysis of ldlr genetic variants identified in hypercholesterolemic patients in brazil, USING CRISPR/CAS9

Atherosclerosis; 331 (E127), 2021
BACKGROUND AND AIMS: Introduction: The familial hypercholesterolemia (FH) is one of the main causes of cardiovascular diseases, and it is mainly caused by genetic variants at the low-density lipoprotein receptor (LDLR). Although ultrasequencing technology has allowed the identification of several genetic...

Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions in patients with familial hypercholesterolemia

Epigenomics (Online); 13 (10), 2021
AIM: functional analysis of pcsk9 3'utr variants and mrna-mirna interactions were explored in patients with familial hypercholesterolemia (fh). MATERIALS & METHODS: PCSK9 3'UTR variants were identified by exon-targeted gene sequencing. Functional effects of 3'UTR variants and mRNA-miRNA interactions were...

Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report

Abstract: Statins are the most widely used cholesterol-lowering drugs for cardiovascular diseases prevention. However, some patients are refractory to treatment, whereas others experience statin-related adverse events (SRAE). It has been increasingly important to identify pharmacogenetic biomarkers for p...