Mechanisms of disease: genetic causes of familial hypercholesterolemia

AK Soutar, RP Naoumova - Nature clinical practice Cardiovascular …, 2007 - nature.com
Familial hypercholesterolemia (FH) is characterized by raised serum LDL cholesterol levels,
which result in excess deposition of cholesterol in tissues, leading to accelerated …

[HTML][HTML] Gender differences in the metabolic syndrome and their role for cardiovascular disease

V Regitz-Zagrosek, E Lehmkuhl… - Clinical Research in …, 2006 - Springer
Women live longer than men and develop cardiovascular disease (CVD) at an older age.
The metabolic syndrome represents a major risk factor for the development of CVD, and …

[PDF][PDF] I Diretriz de Prevenção da Aterosclerose na Infância e na Adolescência

ICB Giuliano, B Caramelli, LC Pellanda… - … . 6 (dez. 2005), p. 1-36., 2005 - lume.ufrgs.br
Atualmente sabemos que é possível obter uma redução na incidência de complicações da
aterosclerose com a adoção de um estilo de vida saudável e com o tratamento …

[HTML][HTML] Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels

V Bianconi, M Banach, M Pirro, ILE Panel - Trends in Cardiovascular …, 2021 - Elsevier
Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density
lipoprotein cholesterol (LDL-C) due to defective clearance of circulating LDL particles. All FH …

Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia

M Paquette, M Chong, S Thériault, R Dufour… - Journal of clinical …, 2017 - Elsevier
Background Although familial hypercholesterolemia (FH) is a severe monogenic disease, it
has been shown that clinical risk factors and common genetic variants can modify …

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

S Bertolini, L Pisciotta, C Rabacchi, AB Cefalù, D Noto… - Atherosclerosis, 2013 - Elsevier
OBJECTIVE: To determine the spectrum of gene mutations and the genotype–phenotype
correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in …

Artificial intelligence and cardiovascular genetics

C Krittanawong, KW Johnson, E Choi, S Kaplin… - Life, 2022 - mdpi.com
Polygenic diseases, which are genetic disorders caused by the combined action of multiple
genes, pose unique and significant challenges for the diagnosis and management of …

ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia

SP Guay, D Brisson, J Munger, B Lamarche… - Epigenetics, 2012 - Taylor & Francis
High-density lipoproteins cholesterol (HDL-C) level, a strong coronary artery disease (CAD)
clinical biomarker, shows significant interindividual variability. However, the molecular …

Dyslipidaemia in rheumatoid arthritis: the role of inflammation, drugs, lifestyle and genetic factors

TE Toms, DP Symmons… - Current vascular …, 2010 - ingentaconnect.com
Rheumatoid arthritis (RA) associates with excess cardiovascular morbidity and mortality,
resulting in significantly shortened lifespan. Traditional risk factors (eg dyslipidaemia and …

Variations on a Gene: Rare and Common Variants in ABCA1 and Their Impact on HDL Cholesterol Levels and Atherosclerosis

LR Brunham, RR Singaraja, MR Hayden - Annu. Rev. Nutr., 2006 - annualreviews.org
▪ Abstract Cholesterol and its metabolites play a variety of essential roles in living systems.
Virtually all animal cells require cholesterol, which they acquire through synthesis or uptake …