112 documents found, page 1 of 12
Regulatory Variants In LDLR And PCSK9 Promoters And 5'UTRs: Investigating The i...
Graça, R.; Menezes, J.; Fernandes, R.; Alves, A.C.; Romão, L.; Bourbon, M.Background and Aims: Familial Hypercholesterolaemia (FH) is a genetic disorder of lipid metabolism caused by pathogenic variants in LDLR, APOB, and PCSK9. While diagnostic efforts traditionally focus on coding variants, non-coding regions, such as promoters and 5'UTRs, remain understudied despite their importance. This work aims to characterise 100 variants in the promotor/5'UTR of LDLR and PCSK9. Methods: The ...
Next Generation Sequencing – a key tool for diagnosis of Familial Dyslipidemias
Miranda, B.; Alves, A.C.; Bourbon, M.Dyslipidemia, a clinical condition defined by abnormal lipid concentrations in blood, can have a genetic etiology. Familial dyslipidemias are a group of genetic diseases, the majority being rare, associated with several serious conditions. Raised triglyceride levels are associated with pancreatic/hepatic complications. Elevated cholesterol levels promote atherosclerosis and increase patients' cardiovascular ris...
Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Da...
Ferreira, M.; Chora, J.R.; Medeiros, A.M.; Bourbon, M.; Alves, A.C.Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing...
Familial hypercholesterolemia in Portugal - lipid-lowering strategies and cardi...
Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.Aims and study samples: Estimate cardiovascular disease (CVD) risk; What are the lipid-lowering therapy (LLT) strategies; How many are reaching LDL-C targets … in Familial Hypercholesterolemia (FH) patients and in the Portuguese general population.
Extended next-generation sequencing panel for Familial Hypercholesterolemia
Medeiros, A.M.; Alves, A.C.; Bourbon, M.Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9. Recently, other 5 genes have been associated with the FH phenotype (LDLRAP1, APOE, L...
Familial Hypercholesterolemia Monogenic Polygenic or Both
Medeiros, A.M.; Alves, A.C.; Chora, J.R.; Bourbon, M.The present work aims to determine the genetic cause (monogenic or polygenic) of hypercholesterolemia in clinical FH patients.
Cardiovascular risk estimation and management in Familial Hypercholesterolemia ...
Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.Objectives and study samples: - Estimate cardiovascular disease (CVD) risk; - What are the lipid-lowering therapy (LLT) strategies; - How many are reaching LDL-C targets; … in Familial Hypercholesterolemia (FH) patients and in the Portuguese general population
Prevalence of statin pharmacogenomic SNPs in Portugal
Chora, J.R.; Alves, A.C.; Bourbon, M.Aim: To determine the prevalence of statin pharmacogenetic relevant genotypes in the Portuguese population.
Unravelling the genetic background in individuals with Familial Hypercholestero...
Medeiros, A.M.; Alves, A.C.; Bourbon, M.Aim: Genetic diagnosis is the only method to correctly identify patients with Familial hypercholesterolemia (FH) but 40%–50% of these individuals do not have a causative variant in LDLR, APOB and PCSK9 genes. In this work, we aim to characterize the genetic background of individuals with FH phenotype.
Specification of ACMG/AMP guidelines for standardized variant interpretation in...
Iacocca, M.A.; Chora, J.R.; Freiberger, T.; Carrie, A.; Sijbrands, E.J.; Wand, H.; Williams, M.; Kurtz, C.L.; Tichy, L.; Alves, A.C.; Zimmermann, H.Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; High heterozygote prevalence (1/250); Homozygous rare (1/1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.