0000000000459898

AUTHOR

Jacqueline C. M. Witteman

showing 3 related works from this author

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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Genetic architecture of circulating lipid levels

2011

Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular disease. Although genome-wide association studies (GWASs) of circulating lipid levels have identified numerous loci, a substantial portion of the heritability of these traits remains unexplained. Evidence of unexplained genetic variance can be detected by combining multiple independent markers into additive genetic risk scores. Such polygenic scores, constructed using results from the ENGAGE Consortium GWAS on serum lipids, were applied to predict lipid levels in an independen…

Netherlands Twin Register (NTR)MaleRiskQuantitative Trait LociPopulationBlood lipidsGenome-wide association study030204 cardiovascular system & hematologyBiologyQuantitative trait locusPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineLipid Metabolism/geneticsGeneticSDG 3 - Good Health and Well-beingModelsGenetic variation/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsHumansPolymorphismeducationSerum lipids; polygenic; genome-wide association; polygenic score; pathway analysisGenetics (clinical)030304 developmental biologyGenetic associationGenetics0303 health scienceseducation.field_of_studyModels GeneticLipids/bloodMetabolic Networks and Pathways/geneticsta3141Lipid metabolismSingle Nucleotideta3142Lipid MetabolismLipidsGenetic architecture3. Good healthPhenotype/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalelipids (amino acids peptides and proteins)Quantitative Trait Loci/geneticsMetabolic Networks and PathwaysGenome-Wide Association StudyEuropean Journal of Human Genetics
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New loci associated with kidney function and chronic kidney disease

2010

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…

medicine.medical_specialtyGENOME-WIDE ASSOCIATION ; SERUM CREATININE ; PROTEIN ; GENE ; MUTATIONS ; VARIANTS ; POPULATION ; CANDIDATE ; HOMOLOG ; MEGALINPopulationRenal functionGenome-wide association studyBiologyKidneyurologic and male genital diseasesCohort Studieschemistry.chemical_compoundSDG 3 - Good Health and Well-beingRisk FactorsInternal medicineGenetic MarkermedicineGeneticsHumansCystatin CeducationCystatin C/geneticsddc:616Genetic Markers/geneticsCreatinineKidneyeducation.field_of_studyModels GeneticRisk Factorchronic kidney disease; loci; SNPCreatinine/bloodmedicine.diseaseDietEuropeKidney/*physiologyEndocrinologymedicine.anatomical_structurechemistryCystatin CRenal physiologyCreatininebiology.proteinKidney Failure ChronicKidney Failure Chronic/ethnology/*geneticsCohort StudieKidney diseaseHumanGenome-Wide Association StudyGlomerular Filtration Rate
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