0000000000084719

AUTHOR

Fátima Almagro

showing 3 related works from this author

Homozygous Familial Hypercholesterolemia in Spain Prevalence and Phenotype-Genotype Relationship

2016

Background— Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor ( LDLR ), apolipoprotein B ( APOB ), proprotein convertase subtilisin/kexin type 9 ( PCSK9 ), and LDL protein receptor adaptor 1 ( LDLRAP1 ). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. Methods and Results— Data were collected from the Spanish Dyslipidemia Regist…

Male0301 basic medicineOncologyLdl receptor geneApolipoprotein BLipid-lowering therapyFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosity0302 clinical medicineAutosomal-dominant hypercholesterolemiaRisk FactorsEpidemiologyPrevalenceDiseaseRegistriesGenetics (clinical)Molecular EpidemiologybiologyhypercholesterolemiaHomozygoteDouble-blindMiddle AgedPhenotypeCardiovascular DiseasesApolipoprotein B-100allelesFemalelipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular MedicineMutationsAdultGenetic MarkersHeterozygotemedicine.medical_specialtyInhibitorAdolescentPlacebo-controlled trialHyperlipoproteinemia Type IIlipidsYoung Adult03 medical and health sciencesInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseAlleleAdaptor Proteins Signal TransducingRecessive hypercholesterolemiaPCSK9registriesCholesterol LDLApolipoprotein-bmedicine.disease030104 developmental biologyEndocrinologyReceptors LDLSpainMutationLDL receptorbiology.proteinmutationDyslipidemia
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Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

2015

Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Ill…

AdultMaleRiskSettore MED/09 - Medicina InternaGenotypePopulationCoronary DiseaseSingle-nucleotide polymorphismGenome-wide association studyComorbidityFamilial hypercholesterolemiaQuantitative trait locusBiologymedicine.disease_causePolymorphism Single NucleotideArticleHyperlipoproteinemia Type IIYoung Adultsymbols.namesakeGene FrequencyRisk FactorsOdds RatioGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationAllelesGenetics (clinical)AgedAged 80 and overGeneticsMutationeducation.field_of_studyfamilial hypercholesterolemiaPCSK9familial hypercholesterolemia; genetic risk factorgenetic risk factorGenetic VariationMiddle Agedmedicine.diseaseBonferroni correctionReceptors LDLCase-Control StudiesMutationsymbolsFemaleGenome-Wide Association StudyEuropean journal of human genetics
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Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients

2017

Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. Our study aims to see clinical characteristics and prevalence of CVD in subjects defined as severe HeFH by IAS criteria. Probable or definite HeFH introduced in the Dyslipidemia Registry of Spanish Arteriosclerosis Society were analyzed by the IAS crite…

AdultMaleHeterozygotemedicine.medical_specialtyMultivariate analysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyRisk AssessmentSeverity of Illness IndexHyperlipoproteinemia Type IITendons03 medical and health sciences0302 clinical medicineMuscular DiseasesInternal medicineSeverity of illnessPrevalenceXanthomatosismedicineHumans030212 general & internal medicineUnivariate analysisbusiness.industryCholesterol LDLOdds ratioArteriosclerosisMiddle Agedmedicine.diseaseLogistic ModelsEndocrinologyCardiovascular DiseasesMultivariate AnalysisCardiologyFemaleCardiology and Cardiovascular MedicinebusinessRisk assessmentDyslipidemiaThe American Journal of Cardiology
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