21 documents found, page 1 of 3
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.
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.
Case-level data sharing makes a difference in variant classification
Chora, J.R.; Tichý, L.; Lacocca, M.A.; Freiberger, T.; Bourbon, M.The American College of Medical Genetics and Genomics guidelines for variant classification are composed of several evidence criteria that, when combined, lead to a 5-tier pathogenicity variant classification. Several criteria rely on case-level data from patients, relatives, or controls with or without a particular variant of interest. (...)
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
Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hyper...
Chora, J.R.; Iacocca, M.; Tichy, L.; Wand, H.; Kurtz, L.C.; Zimmermann, H.; Meredith, A.L.; Williams, M.; Humphries, S.E.; Hooper, A.J.; Brunham, L.Familial Hypercholesterolemia (FH): - Lipid metabolism autosomal dominant condition; - Elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; - High heterozygote prevalence (1/250-1/500); Homozygous rare (1/ 300 000- 1/ 1 000 000); - Caused by pathogenic variants in LDLR (>90%), APOB (5- 10%) and PCSK9 (1...
Pharmacogenomics of dyslipidaemia drugs in Portugal
Chora, J.R.; Bourbon, M.Background/Aim: Statins are the standard treatment for dyslipidaemia disorders, but there is a wide (10-70%) variation in patient response to statin treatment and several documented serious adverse effects. Studies of variants in genes regulating drug absorption, metabolism, pharmacodynamics and excretion mechanisms, have been implicated as reasons for this variability. The aim of this study is to determine the...
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.
Classification of genetic variants for clinical use – the case of Familial Hype...
Chora, J.R.Lecture about FH LDLR variants - classification of genetic variants for clinical use.
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.