0000000000766156

AUTHOR

Sita H. Vermeulen

showing 3 related works from this author

Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

2012

Background— Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results— Continuous ABI and PAD (ABI ≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ≈2.5 million single nucleotide polymorphisms (SNPs) in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fi…

Malegenetic associationGenome-wide association studyAetiology screening and detection [ONCOL 5]030204 cardiovascular system & hematologyBioinformaticsCohort Studies0302 clinical medicineRisk FactorsGenotypeCARDIOVASCULAR RISK-FACTORSInternational HapMap ProjectGenetics (clinical)POPULATIONGeneticsAged 80 and overPeripheral Vascular Diseases0303 health scienceseducation.field_of_studyAge FactorsMiddle AgedPhenotypeperipheral vascular diseaseMeta-analysiscardiovascular system/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCORONARY-ARTERY-DISEASEFemaleCardiology and Cardiovascular MedicineChromosomes Human Pair 9AdultSUSCEPTIBILITY LOCIGenotypePopulationHapMap ProjectBiologyPolymorphism Single NucleotideArticleMolecular epidemiology [NCEBP 1]03 medical and health sciencesSex FactorsSDG 3 - Good Health and Well-beingGeneticscohort studyHumansAnkle Brachial Indexcardiovascular diseasesAlleleeducationHealth aging / healthy living Cardiovascular diseases [IGMD 5]AllelesMolecular epidemiology Aetiology screening and detection [NCEBP 1]030304 developmental biologyGenetic associationAgedCyclin-Dependent Kinase Inhibitor p15ABDOMINAL AORTIC-ANEURYSMcohort study ; genetic association ; genome-wide association study ; meta-analysis ; peripheral vascular diseasegenome-wide association studyMORTALITYChromosomeGENEmeta-analysisbody regionsLogistic ModelsMYOCARDIAL-INFARCTIONATHEROSCLEROSISSEQUENCE VARIANThuman activities
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Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…

2008

Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…

ParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Genetics (clinical)0303 health sciencesTPH210058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthData Interpretation StatisticalFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideGenetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Translational research [ONCOL 3]medicineAttention deficit hyperactivity disorderHumansFamilyGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAlleles030304 developmental biologyChi-Square DistributionEndocrinology and reproduction [UMCN 5.2]business.industrymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Multicenter studyAttention Deficit Disorder with HyperactivityEtiologybusiness030217 neurology & neurosurgeryAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

MaleANOMALIESCandidate geneHeredityEtiologyMolecular biologylnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineSequencing techniquesEXCLUSIONMedicine and Health SciencesExomeDNA sequencingExomeOligonucleotide Array Sequence AnalysisGeneticsSanger sequencingRISKeducation.field_of_studyMultidisciplinaryQRCongenital AnomaliesAnorectal MalformationsGenetic MappingReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]OBESITYsymbolsEngineering and TechnologyMedicineFemaleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Research ArticleAdultQuality ControlCANDIDATE GENESciencePopulationVariant GenotypesBiologysymbols.namesakeSigns and SymptomsDiagnostic MedicineIndustrial EngineeringBIRTH-DEFECTSGeneticsCongenital DisordersHumansAlleleeducationGeneAllelesFistulasNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Dideoxy DNA sequencingGenetic VariationBiology and Life SciencesHuman GeneticsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Research and analysis methodsMolecular biology techniquesBonferroni correctionFGF10Genetic LociREGISTRYEtiologyRenal disorders Radboud Institute for Health Sciences [Radboudumc 11]PLoS One
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