0000000001036407

AUTHOR

Ornella Guardamagna

showing 6 related works from this author

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

2023

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …

cardiovascular risklipoprotein(a).familial hypercholesterolemia
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Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

2021

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…

MaleSettore MED/09 - Medicina InternaArterial diseaseCross-sectional studyAdult populationCoronary DiseaseDiseaseGlobal HealthMedical and Health SciencesDoenças Cardio e Cérebro-vascularesAnticholesteremic AgentMonoclonalPrevalenceRegistriesFamilial HypercholesterolemiaHumanizedStroke11 Medical and Health SciencesLS2_9Studies CollaborationAnticholesteremic AgentsGeneral MedicineHeart Disease Risk FactorMiddle AgedFHSC global registry dataEuropeTreatment OutcomeLower prevalenceGuidancelipids (amino acids peptides and proteins)FemaleProprotein Convertase 9Familial hypercholesterolaemiaLife Sciences & BiomedicineHumanAdultmedicine.medical_specialtyCombination therapyFHSC global registry heterozygous familial hypercholesterolaemiaCardiovascular risk factorsAntibodies Monoclonal HumanizedInsightsAntibodiesNOHyperlipoproteinemia Type IIClinicianMedicine General & InternalInternal medicineGeneral & Internal MedicineHealth SciencesmedicineHumansEAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)Cross-Sectional StudieScience & TechnologyGlobal Perspectivebusiness.industryCholesterol LDLmedicine.diseaseCross-Sectional StudiesHeart Disease Risk FactorsHydroxymethylglutaryl-CoA Reductase InhibitorHydroxymethylglutaryl-CoA Reductase Inhibitorsbusiness
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A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

2007

Objectives— The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. Methods and Results— We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and i…

AdultMalemedicine.medical_specialtyNonsense mutationBiologymedicine.disease_causePolymorphism Single NucleotideRisk AssessmentSensitivity and SpecificityStatistics NonparametricWhite Peopleloss of function mutationHypobetalipoproteinemiaschemistry.chemical_compoundPCSK9 GeneGene FrequencyInternal medicinemedicineHumansGenetic Predisposition to DiseaseMutationhypocholesterolemiaCholesterolIncidencePCSK9Serine EndopeptidasesCholesterol LDLmedicine.diseaseHypocholesterolemiaEndocrinologyfamilial hypobetalipoproteinemiachemistryCodon NonsensePCSK9 geneCase-Control Studiesfamilial hypobetalipoproteinemia hypocholesterolemia loss of function mutation PCSK9 genefamilial hypobetalipoproteinemia; hypocholesterolemia; loss of function mutation; PCSK9 gene.FemaleProprotein ConvertasesHypobetalipoproteinemiaProprotein Convertase 9Cardiology and Cardiovascular MedicineLipoprotein
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Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE

2006

LDLR genePCSK9 gene; loss of function; missense mutation; LDLR gene; LDL-C; hypocholesterolemic effecthypocholesterolemic effectloss of functionPCSK9 genemissense mutationLDL-C
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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…

0301 basic medicineCandidate geneGenetic testingSettore MED/09 - Medicina InternaDatabases FactualDNA Mutational AnalysisDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineDyslipidemias; Genetic testing; National network; Internal Medicine; Cardiology and Cardiovascular MedicineRisk FactorsProspective StudiesProgram DevelopmentProspective cohort studymedicine.diagnostic_testGeneral MedicinePrognosisCholesterolPhenotypeItalyCardiology and Cardiovascular MedicineGenetic Markersmedicine.medical_specialtyNational networkDyslipidemias; Genetic testing; National networkMEDLINEHyperlipoproteinemia Type II03 medical and health sciencesDatabasesInternal medicinemedicineInternal MedicineHumansGenetic Predisposition to DiseaseFactualGenetic testingRetrospective StudiesDyslipidemiasbusiness.industrySettore MED/13 - ENDOCRINOLOGIARetrospective cohort studymedicine.diseaseAtherosclerosisDyslipidemias; Genetic testing; National network; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Prognosis; Program Development; Prospective Studies; Retrospective Studies; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine030104 developmental biologyEndocrinologyDyslipidemiaGenetic markerMutationbusiness
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