0000000000895617

AUTHOR

Annette Peters

showing 56 related works from this author

Chronically elevated branched chain amino acid levels are pro-arrhythmic.

2022

Aim. Cardiac arrhythmias comprise a major health and economic burden and are associated with significant morbidity and mortality, including cardiac failure, stroke and sudden cardiac death (SCD). Development of efficient preventive and therapeutic strategies is hampered by incomplete knowledge of disease mechanisms and pathways. Our aim is to identify novel mechanisms underlying cardiac arrhythmia and SCD using an unbiased approach. Methods and Results. We employed a phenotype-driven N-ethyl-N-nitrosourea (ENU) mutagenesis screen and identified a mouse line with a high incidence of sudden death at young age (6-9 weeks) in the absence of prior symptoms. Affected mice were found to be homozyg…

0301 basic medicinemedicine.medical_specialtyPhysiologyBranched-chain amino acid030204 cardiovascular system & hematologySudden deathSudden cardiac deathAfterdepolarization03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicinePhysiology (medical)Internal medicineCardiac conductionmedicineAnimalsHumansMyocytes CardiacBCAAArrhythmia ; Bcaa ; Electrophysiology ; Metabolism ; Sudden DeathHeart FailureSirolimusbusiness.industrySudden deathCardiac arrhythmiamedicine.diseaseElectrophysiology030104 developmental biologyEndocrinologyMetabolismchemistryHeart failureCalciumMetabolic syndromeCardiology and Cardiovascular MedicinebusinessArrhythmiaAmino Acids Branched-ChainCardiovascular research
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

AgingMultifactorial InheritanceBLOODEpigenetic clock05 Environmental SciencesbiomarkkeritGenome-wide association studyQH426-470Epigenesis Genetic/dk/atira/pure/core/keywords/icep0302 clinical medicineBiomarkers of agingGWASBiology (General)AdiposityGenetics11832 Microbiology and virology0303 health sciences318 Medical biotechnologyDNA methylation1184 Genetics developmental biology physiologygenomiikkaDna Methylation ; Epigenetic Clock ; Gwasddc:DNA-metylaatioINSIGHTSC-Reactive ProteinepigenetiikkaDNA methylationMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingEducational StatusICEPGenetic MarkersPROVIDESSUSCEPTIBILITY LOCIBioinformaticsQH301-705.5GenomicsBiology03 medical and health sciencesNHLBI Trans-Omics for Precision Medicine (TOPMed) ConsortiumAGESDG 3 - Good Health and Well-beingPlasminogen Activator Inhibitor 1REGRESSIONGeneticsHumansEpigeneticsGeneMETAANALYSIS030304 developmental biologyGenome HumanResearchGenetics of DNA Methylation Consortium06 Biological SciencesLipid MetabolismHuman geneticsGenetic architectureImmunity InnateikääntyminenGenetic LociCpG Islands08 Information and Computing Sciences3111 BiomedicineENRICHMENTepigenetic clock030217 neurology & neurosurgeryBiomarkersGenome-Wide Association StudyGranulocytes
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New susceptibility locus for coronary artery disease on chromosome 3q22.3

2009

We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).

medicine.medical_specialtyQuantitative Trait LociLocus (genetics)Single-nucleotide polymorphismGenome-wide association studyCoronary Artery DiseaseQuantitative trait locusBiologyBioinformaticsPolymorphism Single NucleotideArticleCoronary artery diseaseGermanyInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseHepatocyte Nuclear Factor 1-alphaMyocardial infarctionCase-control studyChromosomemedicine.diseaseCase-Control Studiesras ProteinsCardiologyChromosomes Human Pair 3Genome-Wide Association Study
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Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: A pooled analysis of 1018…

2018

Background: Change in the prevalence of raised blood pressure could be due to both shifts in the entire distribution of blood pressure (representing the combined effects of public health interventions and secular trends) and changes in its high-blood-pressure tail (representing successful clinical interventions to control blood pressure in the hypertensive population). Our aim was to quantify the contributions of these two phenomena to the worldwide trends in the prevalence of raised blood pressure. Methods: We pooled 1018 population-based studies with blood pressure measurements on 88.6 million participants from 1985 to 2016. We first calculated mean systolic blood pressure (SBP), mean dia…

systolic blood pressureSettore MED/09 - Medicina Internablood pressure measurementHEALTH EXAMINATION SURVEYSBlood Pressure ; Hypertension ; Population Health ; Global Health ; Non-communicable DiseaseEpidemiology[SDV]Life Sciences [q-bio]global healthSouth Asia//purl.org/pe-repo/ocde/ford#3.03.09 [https]kohonnut verenpaineMedicine and Health Sciencesmiddle income countrymeasurement methodskin and connective tissue diseasesVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Kardiologi: 771Public Environmental & Occupational HealthadultPopulation healthpublic healthblood pressure regulationPublic Health Global Health Social Medicine and EpidemiologyNon-communicable diseasekansainvälinen vertailuhealth surveyagedfemalepriority journalHypertensionBlood pressuremean arterial pressureGLOBAL TRENDSSODIUM-INTAKELife Sciences & Biomedicinesurvey designhypertensionprevalenceGlobal healthUNITED-STATESURBAN COMMUNITIESArticleSECULAR TRENDSMiddle EastCentral Asiamaledisease prevalence[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemkansanterveysbloodSYSTEMATIC ANALYSIShumanverenpainetautiBlood pressure; Global health; Hypertension; Non-communicable disease; Population health; Epidemiology; public health;non-communicable diseaseScience & TechnologyPacific Oceanhigh income countrydiastolic blood pressurePacific RimBlood pressure; Global health; Hypertension; Non-communicable disease; Population healthBlood Pressure - Epidemiology - PopulationNorth Africamajor clinical studyHYPERTENSION PREVALENCEverenpaineFolkhälsovetenskap global hälsa socialmedicin och epidemiologiARTERIAL-HYPERTENSION[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologiePOTASSIUM INTAKEsense organstrend analysistrend studypopulation researchpopulation health[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologylow income country
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Network reconstruction for trans acting genetic loci using multi-omics data and prior information.

2022

Background: Molecular measurements of the genome, the transcriptome, and the epigenome, often termed multi-omics data, provide an in-depth view on biological systems and their integration is crucial for gaining insights in complex regulatory processes. These data can be used to explain disease related genetic variants by linking them to intermediate molecular traits (quantitative trait loci, QTL). Molecular networks regulating cellular processes leave footprints in QTL results as so-called trans-QTL hotspots. Reconstructing these networks is a complex endeavor and use of biological prior information can improve network inference. However, previous efforts were limited in the types of priors…

Data Integrationeducation.field_of_studyComputer scienceScale (chemistry)Bayesian probabilityPopulationQuantitative Trait LociBiological databaseInferenceData Integration ; Machine Learning ; Multi-omics ; Network Inference ; Personalized Medicine ; Prior Information ; Simulation ; Systems BiologyComputational biologyQuantitative trait locusReplication (computing)Machine LearningPrior probabilityCohortGeneticsMolecular MedicineHumans:Medicine [Science]Gene Regulatory NetworkseducationTranscriptomeMolecular BiologyGenetics (clinical)Genome medicine
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Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

2021

From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-based studies with 187 million participants. Changes in the prevalence of underweight and total obesity, and to a lesser extent severe obesity, are largely driven by shifts in the distribution of BMI, with smaller contributions from changes in the shape of the distribution. In East and Southeast Asia…

Population -- Health aspectsLeannessBaixo peso/UnderweightnoneDouble burdenalipainoisuustulotasoglobal healthsystematic analysisSedentary behaviorsRC1200Prospective associations0302 clinical medicineunderweightnälänhätäBiology (General)skin and connective tissue diseasesChildrenComputingMilieux_MISCELLANEOUSBody mass indexHuman Nutrition & Healtheducation.field_of_studyHumane Voeding & GezondheidylipainoGeneral Medicinekansainvälinen vertailu3. Good healthWorld healthMedicineA100 Pre-clinical MedicinePopulation distributionmedicine.medical_specialtyQH301-705.5ScienceSocio-culturaleNursing.Social sciencesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesThinnessSDG 3 - Good Health and Well-beingBMI; epidemiology; global health; none; obesity; underweightNoneHumansObesidade/ObesitySDG 2 - Zero HungereducationVLAGUS adultsOmvårdnadbody mass index; malnutrition; obesity underweightnutritional and metabolic diseasesmedicine.diseaseterveellisyysObesityFaculdade de Ciências SociaisBMI; epidemiology; global health; none; obesity; underweight; Body Mass Index; Humans; Obesity; Prevalence; Risk Factors; ThinnessGeneral BiochemistryWIASlihavuusunderweight ; obesity ; BMIBody mass indexRADemographyN.A.double burdenobesitySettore MED/09 - Medicina Internaalueelliset erotNutrition and DiseaseAnimal Nutrition[SDV]Life Sciences [q-bio]Medizin030204 cardiovascular system & hematology0601 Biochemistry and Cell BiologyChange distribution of body mass indexRisk FactorsRA0421Voeding en ZiekteEpidemiologyPrevalenceMedicine and Health SciencesGlobal healthÍndice de massa corporal/Body Mass Index030212 general & internal medicineUnderweightpainoindeksi2. Zero hungerGeneral NeuroscienceQRaliravitsemuselintarvikkeethealthPublic Health Global Health Social Medicine and EpidemiologyDiervoeding3142 Public health care science environmental and occupational health//purl.org/pe-repo/ocde/ford#3.01.03 [https]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingChinese adultsepidemiologypooled analysisUnderweightmedicine.symptomDiet qualityB120 PhysiologyResearch Articletrends//purl.org/pe-repo/ocde/ford#1.06.03 [https]prevalencePopulationMothersGenetics and Molecular Biologybody mass indexmalnutrition3121 Internal medicineBMImedicineLife Scienceddc:6103125 Otorhinolaryngology ophthalmologyObesitykehonkoostumusNutritionAustralian adultsGeneral Immunology and Microbiology//purl.org/pe-repo/ocde/ford#3.01.04 [https]Ciências sociaisFolkhälsovetenskap global hälsa socialmedicin och epidemiologiMalnutritionEpidemiology and Global Healthsense organsEstilos de Vida e Impacto na Saúde
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Genetic variation of the interleukin-1 family and nongenetic factors determining the interleukin-1 receptor antagonist phenotypes.

2009

The natural anti-inflammatory protein interleukin-1 receptor antagonist (IL-1Ra) inhibits the activity of IL-1 and is associated with vascular injury and metabolic disorders. We analyzed genetic and nongenetic determinants of the IL-1Ra phenotype. Fifteen haplotype-tagging single nucleotide polymorphisms (SNPs) in the IL-1α (IL1A), IL-1β (IL1B), and IL-1 receptor antagonist (IL-1RN) genes were determined in the Health 2000 survey (n = 6771) and European myocardial infarction (MI) survivors (n = 972). Three SNPs were genotyped in the FINRISK97 (FR97) study (n = 7222). We found 3 IL1RN variants that were associated with the IL-1Ra phenotype in the study populations and remained significant af…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismMyocardial InfarctionSingle-nucleotide polymorphism030204 cardiovascular system & hematologyBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineEndocrinologyGene FrequencyMeta-Analysis as TopicInternal medicineGenetic variationmedicineHumansLongitudinal StudiesSurvivorsAllele frequency030304 developmental biologyAged2. Zero hungerGenetics0303 health sciencesGenetic VariationMiddle AgedExplained variation3. Good healthMinor allele frequencyInterleukin 1 Receptor Antagonist ProteinInterleukin 1 receptor antagonistEndocrinologyPhenotypeIL1AMultigene FamilyFemaleBody mass indexInterleukin-1Metabolism: clinical and experimental
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Rising rural body-mass index is the main driver of the global obesity epidemic in adults

2019

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities(.)(1,2) This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity(3-6). Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55% of the global rise in mean BMI from 1985 to 2017-and more than 80% in some low- and middle-income regions…

MaleRural PopulationobesityObesity body mass indexSettore MED/09 - Medicina InternaLetterUrban PopulationEpidemiology[SDV]Life Sciences [q-bio]humanosbody-mass indexadolescenteGeographic MappingSex Factorpaíses desarrolladosRural Health//purl.org/pe-repo/ocde/ford#3.03.09 [https]systematic analysisBody Mass Indexpaíses en desarrollo80 and overrisk factorsAge Factorphysical-activitymediana edadmapeo geográficoAged 80 and overanciano//purl.org/pe-repo/ocde/ford#3.02.18 [https]dietaAge FactorshealthadultoMiddle AgedMultidisciplinary Sciencesadulto joven[SDV] Life Sciences [q-bio]estado nutricionalnutritionScience & Technology - Other TopicsNUTRITIONFemaleHEALTHpooled analysisDiet Healthyworldwide trendsHumanDeveloped CountrieAdultAdolescent//purl.org/pe-repo/ocde/ford#3.03.04 [https]FOOD SYSTEMSocio-culturaleNutritional StatusURBANAdolescent; Adult; Age Factors; Aged; Aged 80 and over; Developed Countries; Developing Countries; Diet Healthy; Female; Geographic Mapping; Humans; Male; Middle Aged; Obesity; Rural Health; Rural Population; Sex Factors; Urban Health; Urban Population; Young Adult; Body Mass Index; Nutritional StatusPOOLED ANALYSISDeveloping CountrieYoung AdultSex FactorsMIDDLE-INCOME COUNTRIESSYSTEMATIC ANALYSISHumansUrban rural Obesity Body-Mass-IndexObesityobesidadDeveloping CountriesAgedMiddle-income countries; obesity; physical-activity; systematic analysis; worldwide trends; pooled analysis; food system; urban; health; nutrition; weightHealthyScience & TechnologyMiddle-income countriesDeveloped Countriesíndice de masa corporalUrban HealthweightDietPHYSICAL-ACTIVITYWORLDWIDE TRENDSRisk factors[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieWEIGHTfood systemurban
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Additional file 4 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 4. Assessment of genomic inflation and heterogeneity.

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Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research

2015

A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate glo…

0301 basic medicineNetherlands Twin Register (NTR)Databases FactualComputer scienceInformation Storage and RetrievalSample (statistics)Ontology (information science)Endocrinology and DiabetesBioinformaticscomputer.software_genredata archivesArticle03 medical and health sciencesSDG 17 - Partnerships for the GoalsSDG 3 - Good Health and Well-beingGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Use casebiomedical dataGenetics (clinical)Biological Specimen BanksGenetics & Heredity0604 GeneticsBioinformatics (Computational Biology)ta112ta1184/dk/atira/pure/sustainabledevelopmentgoals/partnershipsData scienceBiobank3. Good healthcross-biotank research030104 developmental biologyProject planningExchange of informationDisparate systemPrivacyBioinformatik (beräkningsbiologi)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingclinical datacomputerData integrationEuropean Journal of Human Genetics
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Author response: Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

2020

education.field_of_studybusiness.industryPopulationDistribution (economics)medicine.diseaseObesityGeographymedicineUnderweightmedicine.symptomeducationbusinessBody mass indexDemography
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Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis…

2020

BACKGROUND: Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents.

Malebody-mass indexADULTHOODAdolescentspituuskasvuPediatricsBody Mass Index0302 clinical medicineChild DevelopmentnuoretPublic health surveillanceMedicineHealth Status Indicators10. No inequalityChild11 Medical and Health SciencesBody mass indexComputingMilieux_MISCELLANEOUSeducation.field_of_studyVDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801General MedicineBody mass indexeskansainvälinen vertailu3. Good healthGeographyHealth030220 oncology & carcinogenesisChild PreschoolMedical and Health sciences//purl.org/becyt/ford/3 [https]medicine.medical_specialtySchool-aged adolescentsSocio-culturalelapset (ikäryhmät)Nursing.territoriesravinto//purl.org/becyt/ford/3.3 [https]03 medical and health sciencesSchool ChildrenSDG 3 - Good Health and Well-beingSYSTEMATIC ANALYSISHumansschool-aged children and adolescentsMontenegroeducationScience & TechnologyOmvårdnadHealth sciences Medical and Health sciencesCiências médicas e da saúdeBayes TheoremAnthropometryAdolescent Developmentmedicine.diseaseTRENDSHeight and Body-mass IndexFaculdade de Ciências SociaisUNDERNUTRITIONHeight index trajectoriesHeight body mass index children epidemiologybody-mass index; school-aged children and adolescents; risk factors growthStatureBody mass indexDemographySettore MED/09 - Medicina InternaInternationality[SDV]Life Sciences [q-bio]030204 cardiovascular system & hematologyBody-mass index trajectoriesEpidemiologyMedicine and Health Sciencesrisk factorscountriesEPIDEMIOLOGYheight ; body-mass index ; children ; adolescents ; BMI030212 general & internal medicinepainoindeksiChild development2. Zero hungerMedicine(all)School age childobestity children cardiovascularPopulation Health1. No povertyPediatrikPublic Health Global Health Social Medicine and Epidemiology3142 Public health care science environmental and occupational healthPeer reviewPooled analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingNUTRITIONFemalemedicine.symptompooled analysis/dk/atira/pure/subjectarea/asjc/2700Life Sciences & Biomedicineterveysheight BMI nutrition health children adolescentsAdolescentgrowthPopulationbody-massPopulation basedBody-mass indexBMIYoung AdultMedicine General & InternalchildrenMeta-Analysis as TopicGeneral & Internal Medicineparasitic diseasesWeight gainSchool-aged childrensAge trajectoriesbusiness.industryHeightWeightBody HeightFolkhälsovetenskap global hälsa socialmedicin och epidemiologiMalnutritionONSETCiências da Saúde Ciências médicas e da saúdeSchool-aged childrenVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801businessWeight gainterveysriskitEstilos de Vida e Impacto na Saúde
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Differences between Human Plasma and Serum Metabolite Profiles

2011

BackgroundHuman plasma and serum are widely used matrices in clinical and biological studies. However, different collecting procedures and the coagulation cascade influence concentrations of both proteins and metabolites in these matrices. The effects on metabolite concentration profiles have not been fully characterized.Methodology/principal findingsWe analyzed the concentrations of 163 metabolites in plasma and serum samples collected simultaneously from 377 fasting individuals. To ensure data quality, 41 metabolites with low measurement stability were excluded from further analysis. In addition, plasma and corresponding serum samples from 83 individuals were re-measured in the same plate…

MaleSerumClinical Research DesignEpidemiologyScienceMetaboliteProtein metabolismType 2 diabetesPharmacologyBiologyBiochemistryPlasmachemistry.chemical_compoundDiagnostic MedicineBlood plasmaPathologymedicineMetabolomeHumansClinical EpidemiologyBiologyAgedAged 80 and overClinical ChemistryReproducibilityMultidisciplinaryChromatographyQChromatography; Metabolomics; Collection; Samples; Issues; AcidRReproducibility of ResultsMiddle Agedmedicine.diseaseClinical Laboratory SciencesBiomarker EpidemiologychemistrySmall MoleculesBlood ChemistryMetabolomeMedicineBiomarker (medicine)FemaleBiomarkersDrug metabolismResearch ArticleGeneral PathologyPLoS ONE
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Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization…

2021

AbstractThe QT interval is an electrocardiographic measure representing the sum of ventricular depolarization (QRS duration) and repolarization (JT interval). Abnormalities of the QT interval are associated with potentially fatal ventricular arrhythmia. We conducted genome-wide multi-ancestry analyses in >250,000 individuals and identified 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identified associations with Mendelian disease genes. Enrichments were observed in established pathways for QT and JT, with new genes indicated in insulin-receptor signalling and cardiac energy meta…

medicine.medical_specialtybusiness.industryLocus (genetics)Atrial fibrillationmedicine.diseaseQT intervalGenetic architectureSudden cardiac deathQRS complexInternal medicinecardiovascular systemmedicineCardiologyRepolarizationcardiovascular diseasesbusinessVentricular depolarization
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Telomere Length in Circulating Leukocytes is Associated with Lung Function and Disease

2014

Several clinical studies suggest the involvement of premature ageing processes in chronic obstructive pulmonary disease (COPD). Using an epidemiological approach, we studied whether accelerated ageing indicated by telomere length, a marker of biological age, is associated with COPD and asthma, and whether intrinsic age-related processes contribute to the interindividual variability of lung function. Our meta-analysis of 14 studies included 934 COPD cases with 15 846 controls defined according to the Global Lungs Initiative (GLI) criteria (or 1189 COPD cases according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria), 2834 asthma cases with 28 195 controls, and s…

Lung DiseasesMalePulmonary and Respiratory MedicineSpirometryNetherlands Twin Register (NTR)Vital capacityVital Capacityennenaikainen vanheneminenDiseaseCohort StudiesPathogenesisPulmonary Disease Chronic ObstructiveTelomere HomeostasisSDG 3 - Good Health and Well-beingForced Expiratory VolumeastmaLeukocytes/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansCOPDMedicinekeuhkoahtaumatautiAgedAsthmatelomeeriCOPDmedicine.diagnostic_testpremature agingbusiness.industrySmokingCase-control studyta3141Middle AgedTelomerespirometriamedicine.diseaseAsthmabiologinen ikäbiological age3. Good healthrespiratory tract diseasesEuropeSpirometryCase-Control StudiesImmunologyRegression Analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalebusinessEuropean Respiratory Journal
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Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure.

2021

AbstractLong and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence neuroendocrine and vascular systems. To gain new insights into the genetic basis of sleep-related BP variation, we performed genome-wide gene by short or long sleep duration interaction analyses on four BP traits (systolic BP, diastolic BP, mean arterial pressure, and pulse pressure) across five ancestry groups using 1 degree of freedom (1df) interaction and 2df joint tests. Primary multi-ancestry analyses in 62,969 individuals in stage 1 identified 3 novel loci that were replicated in an additional 59,296 individuals in stage 2, including rs7…

0301 basic medicineMean arterial pressureDiastoleBlood PressureBiology3121 Internal medicineGenomePolymorphism Single NucleotideElevated blood3124 Neurology and psychiatryArticleCellular and Molecular Neuroscience03 medical and health sciencesTRPC30302 clinical medicineSDG 3 - Good Health and Well-beingHumansMolecular BiologyGene030304 developmental biologyGenetics0303 health sciences[STAT.AP]Statistics [stat]/Applications [stat.AP]Short sleepSleep in non-human animalsPulse pressurePsychiatry and Mental health030104 developmental biologyBlood pressure[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsGenetic LociHypertension[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie3111 Biomedicine[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]Sleep[STAT.ME]Statistics [stat]/Methodology [stat.ME]030217 neurology & neurosurgeryGenome-Wide Association StudyMolecular psychiatry
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Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflam…

2010

AbstractTo identify the genetic basis of circulating concentrations of monocyte chemoattractant protein-1 (MCP-1), we conducted genome-wide association analyses for MCP-1 in 3 independent cohorts (n = 9598). The strongest association was for serum MCP-1 with a nonsynonymous polymorphism, rs12075 (Asp42Gly) in DARC, the gene for Duffy antigen receptor for chemokines, a known vascular reservoir of proinflammatory cytokines (minor allele frequency, 45.6%; P < 1.0 * 10−323). This association was supported by family-based genetic linkage at a locus encompassing the DARC gene (genome-wide P = 8.0 * 10−13). Asp42Gly accounted for approximately 20% of the variability in serum MCP-1 concentration…

AdultMaleCCR2ChemokineErythrocytesImmunologyReceptors Cell SurfacePolymorphism Single NucleotideBiochemistryProinflammatory cytokineCohort StudiesmedicineHumansCytokine bindingReceptorInterleukin 6Chemokine CCL2biologyMonocyteCell BiologyHematologyMiddle AgedMolecular biologymedicine.anatomical_structureChromosomes Human Pair 1Genetic LociImmunologybiology.proteinFemaleInterleukin 18Inflammation MediatorsDuffy Blood-Group SystemGenome-Wide Association StudyBlood
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Worldwide trends in body-mass index, underweight, overweight, and obesity from 1975 to 2016: a pooled analysis of 2416 population-based measurement s…

2017

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground Underweight, overweight, and obesity in childhood and adolescence are associated with adverse health consequences throughout the life-course. Our aim was to estimate worldwide trends in mean body-mass index (BMI) and a comprehensive set of BMI categories that cover underweight to obesity in children and adolescents, and to compare trends with those of adults. Methods We pooled 2416 population-based studies with measurements of height and weight on 128·9 million participants aged 5 years and older, including 31·5 million aged 5–19 years. We used a Bayesian hierarchical model …

MaleobesityPediatric ObesitySettore MED/09 - Medicina Internaage distributionBayes theoremNiue[SDV]Life Sciences [q-bio]global healthpreschool childBody Mass IndexunderweightPrevalencestatistics and numerical dataChildComputingMilieux_MISCELLANEOUSMedicine (all)adultAge FactorsAmerican Samoafemalepriority journalChild Preschoolbody heightyoung adultCook IslandsNauruchildhood obesityAdolescentPalausex differenceEastern Europeadolescent obesityArticlePolynesiaSouth and Central Americabody weightFederated States of MicronesiaSex FactorsThinnessgeographic distributionHumanscontrolled studyhumanCaribbeanOverweightNorth Africamajor clinical studybody massUnited States//purl.org/pe-repo/ocde/ford#3.02.00 [https]agesex factortrend study
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Additional file 3 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 3. Supplementary Figures - Figures S1-S31.

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Hypertension in Germany

2016

Background: Hypertension is a key risk factor. However, population data based on blood pressure measurements in Germany are scarce. Methods: Standardized blood pressure (BP) measurements and medication data from seven population-based studies conducted in Germany between 1994 and 2012 (66 845 participants, 25-74 years) were analyzed: the EPIC-Potsdam study (1994-1998, EPIC), the KORA-S4 Study (1999-2001) in Augsburg, and the Gutenberg Health Study (2007-2012, GHS) in Mainz/Mainz-Bingen provided data for descriptive comparisons. Time trends were analyzed based on identical study regions for the German National Health Interview and Examination Survey 1998 (BGS98) and the German Health Examina…

National healtheducation.field_of_studybusiness.industryPopulationDiastoleGeneral Medicine030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineBlood pressureStudy of Health in PomeraniaPopulation dataMedicineNational level030212 general & internal medicineRisk factoreducationbusinessDemographyDeutsches Ärzteblatt international
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National trends in total cholesterol obscure heterogeneous changes in HDL and non-HDL cholesterol and total-to-HDL cholesterol ratio : a pooled analy…

2020

Artículo con numerosos autores. Sólo quedan reflejados el primero, los pertenecientes a la UAM y el colectivo

Malegupo de ascendencia continental asiáticaSettore MED/09 - Medicina InternaTotal Cholesterol ; Ldl Cholesterol ; Hdl Cholesterol ; Blood Lipids ; Multi-country StudyEpidemiologykolesterolihumanosBlood lipidsBLOOD-PRESSURE030204 cardiovascular system & hematologytriglicéridoschemistry.chemical_compound0302 clinical medicineHigh-density lipoproteinHDL cholesterolEpidemiologyMedicine and Health SciencesCARDIOVASCULAR RISK-FACTORSMedicine030212 general & internal medicinemediana edadlípidosPublic Environmental & Occupational Health2. Zero hungerancianoeducation.field_of_studyAge FactorsPublic Health Global Health Social Medicine and EpidemiologyGeneral MedicineMiddle Agedcolesteroladultokansainvälinen vertailuLipids3142 Public health care science environmental and occupational health3. Good healthEuropeCholesterolPopulation SurveillanceLDL cholesterolSERUM-LIPIDSFemalelipids (amino acids peptides and proteins)Life Sciences & BiomedicineAdultAsian Continental Ancestry GroupCanadaHDL cholesterol; LDL cholesterol; Total cholesterol; blood lipids; multi-country studymedicine.medical_specialtyAsiaMedicinaEuropean Continental Ancestry GroupPopulationNursingHDL-kolesteroliWhite PeopleDIETARY-FAT03 medical and health sciencesSex FactorsAsian Peoplekansanterveysvigilancia de la poblaciónTotal cholesterolHumansCORONARY-HEART-DISEASEmulti-country studyddc:610LDL-kolesteroliTotal cholesteroleducationTriglyceridesMETAANALYSISAgedINDIVIDUAL DATAScience & Technologyblood lipidsbusiness.industryCholesterolOmvårdnadblood lipidCholesterol HDLEcological studynutritional and metabolic diseasesCholesterol LDLUnited StatesFolkhälsovetenskap global hälsa socialmedicin och epidemiologiAdult; Age Factors; Aged; Asia; Asian Continental Ancestry Group; Canada; Cholesterol/blood; Cholesterol HDL; Cholesterol LDL; Europe; European Continental Ancestry Group; Female; Humans; Lipids/blood; Male; Middle Aged; Population Surveillance/methods; Sex Factors; Triglycerides/blood; United States; HDL cholesterol; LDL cholesterol; Total cholesterol; blood lipids; multi-country studychemistryWORLDWIDE TRENDSMulti-country study ; Total cholesterol ; HDL cholesterol ; LDL cholesterol ; Blood lipidsgrupo de ascendencia continental europeabusinessHIGH-DENSITY-LIPOPROTEIN[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyDemographyLipoprotein
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Additional file 6 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 6. Review history.

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Additional file 1 of Network reconstruction for trans acting genetic loci using multi-omics data and prior information

2022

Additional file 1 Supplementary material, supporting figures and tables.

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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

2018

ABSTRACTElectrocardiographic PR interval measures atrial and atrioventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. We performed a genome-wide association study in over 92,000 individuals of European descent and identified 44 loci associated with PR interval (34 novel). Examination of the 44 loci revealed known and novel biological processes involved in cardiac atrial electrical activity, and genes in these loci were highly over-represented in several cardiac disease processes. Nearly half of the 61 independent index variants in the 44 loci were associated with atrial or blood transcript expression levels, or were i…

GeneticsQRS complexHeart blockmedicinecardiovascular systemMissense mutationGenome-wide association studyAtrial fibrillationPR intervalBiologymedicine.diseaseGenomeGene
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Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

2018

Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…

Genetics and Molecular Biology (all)MaleNetherlands Twin Register (NTR)0301 basic medicineResearch paperGFI1 protein humanGFI1-locusraskausResearch & Experimental Medicinecardio-metabolic phenotypesBiochemistryEpigenesis GeneticGLOBAL Meth QTL Consortium0302 clinical medicinePregnancySmoke030212 general & internal medicinematernal prenatal smokingDNA METHYLATIONmedia_commonRISK2. Zero hungereducation.field_of_studySmokingta3142General MedicineMiddle Agedgenetics [Transcription Factors]3. Good healthDNA-Binding ProteinsPhenotypeMedicine Research & ExperimentalCARDIOVASCULAR-DISEASEepigenetiikkaPopulation SurveillancePrenatal Exposure Delayed EffectsDNA methylation/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleDisease SusceptibilityBIOS ConsortiumMedical GeneticsLife Sciences & BiomedicineAdultmedicine.medical_specialtyOffspringBirth weightPopulationMothersgenetics [DNA-Binding Proteins]ta3111MethylationGeneral Biochemistry Genetics and Molecular BiologyDIET03 medical and health sciencesMedicine General & InternalSDG 3 - Good Health and Well-beingtupakointiGeneral & Internal MedicineInternal medicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicinemedia_common.cataloged_instanceHumansddc:610adverse effects [Maternal Exposure]EXPOSUREEpigeneticsEuropean unioneducationMedicinsk genetikEPIGENOME-WIDE ASSOCIATIONPregnancyBiochemistry Genetics and Molecular Biology (all)Science & Technologybusiness.industryadverse effects [Smoking]DNA Methylationta3121medicine.diseaseBIRTH-WEIGHT030104 developmental biologyEndocrinologyGenetic Locisydän- ja verisuonitauditCpG IslandsCIGARETTE-SMOKINGCESSATIONEnergy Metabolismmetabolism [Myocardium]businessBody mass indexBiomarkersTranscription FactorsEBioMedicine
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Large-scale association analysis identifies new risk loci for coronary artery disease

2016

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r 2 < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes …

AdultAsian Continental Ancestry GroupMaleCandidate geneBIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAPopulationEuropean Continental Ancestry GroupQuantitative Trait LociCADGenome-wide association studySingle-nucleotide polymorphismCoronary Artery Disease030204 cardiovascular system & hematologyBiologyQuantitative trait locusBioinformaticsPolymorphism Single NucleotideArticleWhite Peoplecoronary artery disease risk lociCell LineCoronary artery disease03 medical and health sciences0302 clinical medicineAsian PeopleRisk FactorsmedicineHumansgeneticsGene Regulatory NetworksGenetic Predisposition to Diseasecardiovascular diseasesPolymorphismeducation030304 developmental biologyGenetic associationAgedGenetics0303 health scienceseducation.field_of_studyAdult Aged Asian Continental Ancestry Group Cell Line Coronary Artery Disease; genetics European Continental Ancestry Group; genetics Female Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Middle Aged Polymorphism; Single Nucleotide Quantitative Trait Loci Risk FactorsSingle NucleotideMiddle Agedmedicine.disease3. Good healthFemaleGenome-Wide Association StudyNature Genetics
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Burden of cardiovascular risk factors and cardiovascular disease in childhood cancer survivors: Data from the German CVSS-study.

2018

Aims: The cardiac and vascular late sequelae in long-term survivors of childhood cancer (CVSS)-study aimed to quantify the prevalence of cardiovascular risk factors (CVRF) and cardiovascular disease (CVD) in German childhood cancer survivors (CCS). Methods and results: In the CVSS-study (NCT02181049), 1002 CCS (age range 23-48 years) diagnosed with neoplasia prior to 15 years of age between 1980 and 1990 prospectively underwent a systematic, standardized clinical and laboratory cardiovascular screening, identical to the population-based Gutenberg Health Study (GHS) cohort. For 951 individuals, prevalences of CVRF and CVD were primarily compared to the GHS sample and to two further German po…

AdultMalemedicine.medical_specialtyPopulationComorbidity030204 cardiovascular system & hematologyYoung Adult03 medical and health sciences0302 clinical medicineCancer SurvivorsRisk FactorsGermanyDiabetes mellitusInternal medicineDiabetes MellitusPrevalenceHumansMedicineObesityAge of OnsetSex DistributionYoung adulteducationeducation.field_of_studybusiness.industrySmokingMiddle Agedmedicine.diseaseComorbidityConfidence intervalCardiotoxicity ; Long-term Survivors ; Late Sequelae ; Cardiovascular Morbidity ; Cardio-oncologyCardiovascular Diseases030220 oncology & carcinogenesisRelative riskCohortFemaleAge of onsetCardiology and Cardiovascular Medicinebusiness
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Additional file 5 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 5. Colocalization plots.

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Repositioning of the global epicentre of non-optimal cholesterol

2020

Publisher's version (útgefin grein)

MaleMyocardial Ischemia/bloodBLOOD-PRESSUREtriglicéridos0302 clinical medicineCardiovascular diseases ; Risk factorsHDL cholesterol80 and overCARDIOVASCULAR RISK-FACTORSPublic health surveillance//purl.org/pe-repo/ocde/ford#3.02.04 [https]BlóðrásarsjúkdómarSocioeconomicsmediana edadComputingMilieux_MISCELLANEOUSPOPULATIONHypercholesterolemia/bloodAged 80 and overCholesterol HDL/bloodancianoeducation.field_of_studyKólesterólriskitekijätadulto3. Good healthadulto jovenTriglycerides/bloodCardiovascular diseasesGeographyCholesterolManchester Institute for Collaborative Research on AgeingCholesterol LDL/bloodDENSITY-LIPOPROTEIN CHOLESTEROLEndokrinologi och diabetesNCD Risk Factor Collaboration (NCD-RisC)Science & Technology - Other Topics//purl.org/becyt/ford/3 [https]Westernteorema de Bayesmedicine.medical_specialtyResearchInstitutes_Networks_Beacons/MICRAHDLMedicinaHypercholesterolemiahipercolesterolemiaNursingHEART-DISEASEEndocrinology and DiabetesHigh blood cholesterol.HDL-kolesteroliArticleLDLravintoHealth risk assessment03 medical and health sciences//purl.org/becyt/ford/3.3 [https]SDG 3 - Good Health and Well-beingBlood cholesterolHumanseducationSERUM-CHOLESTEROLVLAGAgedScience & TechnologyCholesterolPublic healthOmvårdnadHuman healthVDP::Medisinske Fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710Bayes TheoremATHEROSCLEROSIS SOCIETYRisk factorschemistryLipid-lowering medicationsFaculdade de Ciências SociaisEast and southeast Asiaalueelliset erotInternationalityNutrition and Disease[SDV]Life Sciences [q-bio]kolesterolihumanosMyocardial IschemiaMedizinadolescenteNon-HDL cholesterolBlood lipids030204 cardiovascular system & hematologyisquemia miocárdicachemistry.chemical_compoundCholesterol epidemiologyMEDICATION USEVoeding en ZiekteMedicine and Health SciencesAdolescent; Adult; Aged; Aged 80 and over; Bayes Theorem; Cholesterol HDL; Cholesterol LDL; Female; Humans; Hypercholesterolemia; Male; Middle Aged; Myocardial Ischemia; Stroke; Triglycerides; Young Adult; Internationality030212 general & internal medicine2. Zero hungerMultidisciplinaryMortality rateRepositioningStroke/blood1. No povertyPublic Health Global Health Social Medicine and EpidemiologycolesterolMiddle AgedVDP::Medical disciplines: 700::Basic medical dental and veterinary science disciplines: 7103142 Public health care science environmental and occupational healthPeer reviewStrokeMultidisciplinary SciencesTrend analysis/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalelipids (amino acids peptides and proteins)LIPIDSAdultAdolescentGeneral Science & TechnologyPopulationepicentre20-YEAR TRENDSYoung AdultmedicineLife Scienceddc:610accidente cerebrovascularDisease burdenTriglyceridesNutritionHigh density lipoproteinsnon-optimal cholesterolCholesterol HDLinternacionalidadCholesterol LDLTreatmentFolkhälsovetenskap global hälsa socialmedicin och epidemiologi
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A century of trends in adult human height

2016

Article

estatura corporalEpidemiologyComputingMilieux_LEGALASPECTSOFCOMPUTINGmedical research;pituuskasvuGlobal Healthmedical research0302 clinical medicineadultsPublic health surveillanceBiology (General)ComputingMilieux_MISCELLANEOUSheight ; global ; trendsPOPULATIONHuman Nutrition & Healthbiological sciences;education.field_of_studyEVOLUÇÃO HUMANAbiological sciencesHumane Voeding & GezondheidGeneral MedicineadultoHälsovetenskaperBiological sciencesnutritionOF-THE-LITERATUREMedicineGROWTHHEALTHPublic HealthHumanQH301-705.5ScienceSECULAR CHANGESSocio-culturaleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesEpidemiology; Public HealthMedical researchNoneHealth SciencesHumansHuman heighteducationVLAGNeuroscience (all)Biochemistry Genetics and Molecular Biology (all)Adult human heightCHILD UNDERNUTRITION030104 developmental biologyBody mass index030217 neurology & neurosurgeryheightDemography0301 basic medicineSettore MED/09 - Medicina InternaNutrition and DiseaseImmunology and Microbiology (all)[SDV]Life Sciences [q-bio]humanosbiological sciences; epidemiology; global health; medical research; none; nutritionVoeding en ZiekteStature -- History -- 20th centuryMedicine and Health SciencesBiological sciencesaikuisetGeneral NeuroscienceQRPublic Health Global Health Social Medicine and EpidemiologyBody sizenone;biological sciences; epidemiology; global health; medical research; none; nutrition; Adult; Global Health; Humans; Body Height; Neuroscience (all); Biochemistry Genetics and Molecular Biology (all); Immunology and Microbiology (all)epidemiology;Adult height//purl.org/pe-repo/ocde/ford#3.01.03 [https]Research Articletrendsglobal health;AdultSTATURESouth asia//purl.org/pe-repo/ocde/ford#1.06.03 [https]Stature TallPopulationGlobal healthJournal ArticleLife ScienceGeneral Immunology and Microbiologybiological science//purl.org/pe-repo/ocde/ford#3.01.04 [https]Quarter (United States coin)Body HeighttrenditBODY-MASS INDEXFolkhälsovetenskap global hälsa socialmedicin och epidemiologikorkeusEpidemiology and Global HealthCancer incidenceCANCER INCIDENCEWEIGHT
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A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

2015

Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including similar to 120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indels were examined. We identified 41 genome-wide significant fibrinogen loci ; of which, 18 …

AdultMale0301 basic medicineNetherlands Twin Register (NTR)Single-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideWhite People03 medical and health sciencesINDEL MutationGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Humans1000 Genomes ProjectInternational HapMap ProjectIndelMolecular BiologyGenetics (clinical)ComputingMilieux_MISCELLANEOUSAgedGenetic associationAged 80 and overGeneticsAssociation Studies ArticlesFibrinogen[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyGeneral MedicineMiddle AgedGenetic architecture030104 developmental biologyGenetic LociFemaleGENOME-WIDE ASSOCIATION ; C-REACTIVE PROTEIN ; CARDIOVASCULAR-DISEASE ; CIRCULATING FIBRINOGEN ; GENETIC ARCHITECTURE ; VARIANTS ; DESIGN ; HEMOSTASIS ; RESOURCE ; HEALTHImputation (genetics)Genome-Wide Association Study
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Additional file 1 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 1. Individual cohort descriptions and acknowledgements.

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Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19.2 million …

2016

Copyright © NCD Risk Factor Collaboration. Open Access article distributed under the terms of CC BY.

MaleObesidadCHILDRENSaludReviewpaíses desarrolladosGlobal HealthBody Mass IndexBody mass index population study0302 clinical medicineModelsFactores de riesgo cardiovascularMedicinebody mass index ; underweight ; overweight ; obesityYoung adultHuman Nutrition & Healtheducation.field_of_studyHumane Voeding & GezondheidGeneral MedicineASSOCIATION11 Medical And Health Sciencesadultopredicciónadulto jovenCARDIOVASCULAR-DISEASEthinness/epidemiologyNONCOMMUNICABLE DISEASESNCD Risk Factor Collaboration (NCD-RisC)Enfermedades cardiovascularesDeveloped countryteorema de BayesMedical sciences03 medical and health sciencesSDG 3 - Good Health and Well-beingThinnessHumanseducationDeveloping CountriesobesidadVLAGScience & TechnologyModels StatisticalCAUSE-SPECIFIC MORTALITYBayes Theoremmedicine.diseaseQPObesityadult body-massIndice de masa corporal (IMC)RISK-FACTORSAdolescent; Adult; Bayes Theorem; Body Mass Index; Developed Countries; Developing Countries; Female; Forecasting; Global Health; Humans; Male; Models Statistical; Obesity/epidemiology; Prevalence; Thinness/epidemiology; Young AdultRABody mass indexDemographyMeta-AnalysisGerontologySettore MED/09 - Medicina InternaNutrition and DiseasehumanosadolescenteOverweightpaíses en desarrolloVoeding en ZiekteMedicine and Health SciencesGlobal healthPrevalence030212 general & internal medicineNon-U.S. Gov'tMedicine (all)Research Support Non-U.S. Gov'tprevalenciaPublic Health Global Health Social Medicine and EpidemiologyStatisticalAdolescent; Adult; Bayes Theorem; Developed Countries; Developing Countries; Female; Forecasting; Humans; Male; Models Statistical; Obesity; Prevalence; Thinness; Young Adult; Body Mass Index; Global Health; Medicine (all)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleUnderweightmedicine.symptompooled analysisLife Sciences & Biomedicineobesity/*epidemiologyAdultAdolescentPopulation030209 endocrinology & metabolismResearch SupportYoung AdultMedicine General & InternalEPIDEMICGeneral & Internal MedicineJournal ArticleLife Scienceddc:610ObesityObesidad morbidaOBESITY PREVENTIONOVERWEIGHTbusiness.industryDeveloped Countriesíndice de masa corporalCOHORTS//purl.org/pe-repo/ocde/ford#3.02.00 [https]Folkhälsovetenskap global hälsa socialmedicin och epidemiologiCiencias socio biomédicasbusinessdelgadezForecasting
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Additional file 5 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 5. Colocalization plots.

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Physical Activity, Incidence, and Progression of Age-Related Macular Degeneration: A Multicohort Study.

2022

Contains fulltext : 249581.pdf (Publisher’s version ) (Closed access) PURPOSE: To investigate the impact of physical activity (PA) on the incidence or progression of age-related macular degeneration (AMD) in the general population. DESIGN: Meta-analysis of longitudinal cohort studies. METHODS: We included 14,630 adults with no or early AMD at baseline from 7 population-based studies and examined associations of PA with AMD incidence and progression using multistate models (MSM) per study and subsequent random effects meta-analysis. Age effects were assessed using meta-regression. The main outcome measure was the hazard ratio (HR) for incident early or progression to late AMD. RESULTS: At ba…

Adultmedicine.medical_specialtygenetic structuresPopulationPhysical activitySensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Cohort Studies03 medical and health sciencesMacular Degeneration0302 clinical medicineSDG 3 - Good Health and Well-beingRisk FactorsInternal medicineAge relatedmedicineHumansLongitudinal StudiesRisk factoreducationExerciseAgededucation.field_of_studybusiness.industryIncidence (epidemiology)IncidenceHazard ratioMacular degenerationMiddle Agedmedicine.diseaseeye diseases3. Good healthOphthalmology030221 ophthalmology & optometryDisease Progression[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologiesense organsbusiness030217 neurology & neurosurgeryCohort studyFollow-Up Studies
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Additional file 3 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 3: Supplementary Figures.

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Additional file 6 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 6. Review history.

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Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

2020

AbstractBiological ageing estimators derived from DNA methylation (DNAm) data are heritable and correlate with morbidity and mortality. Leveraging DNAm and SNP data from >41,000 individuals, we identify 137 genome-wide significant loci (113 novel) from meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We report strong genetic correlations with longevity and lifestyle factors such as smoking, education, and obesity. Significant associations are observed in polygenic risk score analysis and to a lesser extent in Mendelian randomization analyses. This study illuminates the genetic …

African americanGenetics0303 health sciencesdNaMGenome-wide association studyBiologyGenome3. Good health03 medical and health sciences0302 clinical medicineAgeingDNA methylationParental longevityEpigenetics030217 neurology & neurosurgery030304 developmental biology
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

2018

International audience; C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two genome-wide association studies (GWASs), on HapMap and 1000 Genomes imputed data, of circulating amounts of CRP by using data from 88 studies comprising 204,402 European individuals. Additionally, we performed in silico functional analyses and Mendelian randomization analyses with several clinical outcomes. The GWAS meta-analyses of CRP revealed 58 distinct genetic loci (p < 5 × 1…

0301 basic medicineMaleNetherlands Twin Register (NTR)Bipolar DisorderLD SCORE REGRESSION[SDV]Life Sciences [q-bio]Genome-wide association study[SDV.GEN] Life Sciences [q-bio]/GeneticsBody Mass Indexinflammatory disorder80 and overWIDE ASSOCIATIONEPIDEMIOLOGYta318International HapMap ProjectChildGenetics (clinical)2. Zero hungerGeneticsGenetics & HeredityAged 80 and over[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyC-reactive proteingenome-wide association studyinflammationMendelian randomizationinflammatory disordersDEPICTcoronary artery diseaseschizophreniasystem biologysystem biologyDEPICTMendelian Randomization Analysis11 Medical And Health SciencesMiddle AgedC-reactive protein; coronary artery disease; DEPICT; genome-wide association study; inflammation; inflammatory disorders; Mendelian randomization; schizophrenia; system biology; Adolescent; Adult; Aged; Aged 80 and over; Biomarkers; Bipolar Disorder; Body Mass Index; C-Reactive Protein; Child; Female; Genetic Loci; Genome-Wide Association Study; Humans; Inflammation; Liver; Male; Mendelian Randomization Analysis; Metabolic Networks and Pathways; Middle Aged; Schizophrenia; Young Adult3. Good health[SDV] Life Sciences [q-bio]LiverMedical geneticsBiomarker (medicine)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleinflammatory disordersLife Sciences & BiomedicineMetabolic Networks and Pathwayscoronary artery diseaseHumanAdultmedicine.medical_specialtyAdolescentCHARGE Inflammation Working GroupC-reactive protein ; DEPICT ; Mendelian randomization ; coronary artery disease ; genome-wide association study ; inflammation ; inflammatory disorders ; schizophrenia ; system biologyBiologyIMMUNITYta3111ArticleC-reactive protein03 medical and health sciencesYoung AdultSDG 3 - Good Health and Well-beingMendelian randomizationGeneticsmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Mendelian randomizationHumansCORONARY-HEART-DISEASEMendelian Randomization Analysi1000 Genomes ProjectMETAANALYSISGenetic associationAged[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & Technologygenome-wide association studyta1184Metabolic Networks and PathwayBiomarkerINSTRUMENTS06 Biological SciencesMendelian Randomization Analysisschizophrenia030104 developmental biologyGenetic LociinflammationC-reactive protein; DEPICT; Mendelian randomization; coronary artery disease; genome-wide association study; inflammation; inflammatory disorders; schizophrenia; system biology[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyBiomarkersLifeLines Cohort Study
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Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020

Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for &gt; 170,000 photographs from UKBB. We searched for early AMD loc…

0301 basic medicinegenetic structures610 MedizinGenome-wide association studyMacular Degeneration0302 clinical medicineAdvanced diseaseCD46Genetics (clinical)GeneticsInternational AMD genomics consortium (IAMDGC)ddc:6100303 health sciencesGenome-wide association study (GWAS)3. Good health030220 oncology & carcinogenesisAge-related macular degeneration (AMD)Meta-analysisResearch ArticleGenetic Markerslcsh:Internal medicineUK biobank (UKBB)lcsh:QH426-470Locus (genetics)GenomicsComputational biologyBiologyPolymorphism Single NucleotideGenome-wide association study (GWAS) Meta-analysis Age-related macular degeneration (AMD) Early AMD CD46 TYR International AMD genomics consortium (IAMDGC) UK biobank (UKBB) Machine-learning Automated phenotyping03 medical and health sciencesEarly AMDGeneticsmedicineHumansGenetic Predisposition to DiseaseGenome-wide Association Study (gwas) ; Meta-analysis ; Age-related Macular Degeneration (amd) ; Early Amd ; Cd46 ; Tyr ; International Amd Genomics Consortium (iamdgc) ; Uk Biobank (ukbb) ; Machine-learning ; Automated Phenotypinglcsh:RC31-1245Machine-learning030304 developmental biologyTYRCD46Macular degenerationmedicine.diseaseHuman geneticseye diseasesGenetic architectureMeta-analysislcsh:Genetics030104 developmental biologyGenetic LociCase-Control StudiesAutomated phenotypingHTRA1030221 ophthalmology & optometrysense organsGenome-Wide Association Study
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Methylation status of VTRNA2-1/nc886 is stable across populations, monozygotic twin pairs and in majority of tissues.

2022

Aims & methods: The aim of this study was to characterize the methylation level of a polymorphically imprinted gene, VTRNA2-1/nc886, in human populations and somatic tissues.48 datasets, consisting of more than 30 tissues and >30,000 individuals, were used. Results: nc886 methylation status is associated with twin status and ethnic background, but the variation between populations is limited. Monozygotic twin pairs present concordant methylation, whereas similar to 30% of dizygotic twin pairs present discordant methylation in the nc886 locus. The methylation levels of nc886 are uniform across somatic tissues, except in cerebellum and skeletal muscle. Conclusion: The nc886 imprint may be est…

VTRNA2-1EXPRESSIONCancer Researchpolymorphic imprintingväestötutkimusDISEASEnc886Geneticsnoncoding 886COHORTPLACENTAEXPOSUREgeeniekspressioBRAINEPIGENOME-WIDE ASSOCIATIONRISKDNA methylationgeenit1184 Genetics developmental biology physiologyDna Methylation ; Vtrna2-1 ; Developmental Origins Of Health And Disease Hypothesis ; Imprinting ; Metastable Epiallele ; Nc886 ; Noncoding 886 ; Polymorphic Imprinting ; Population Studiespopulation studies217 Medical engineeringmetastable epialleleDNA-metylaatiodevelopmental origins of health and disease hypothesisHEALTH3111 Biomedicineimprinting
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Additional file 2 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 2: Supplementary Note.

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Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: a pooled analysis of 96 population-based studies with 331…

2015

Diabetes has been defined on the basis of different biomarkers, including fasting plasma glucose (FPG), 2-h plasma glucose in an oral glucose tolerance test (2hOGTT), and HbA1c. We assessed the effect of different diagnostic definitions on both the population prevalence of diabetes and the classification of previously undiagnosed individuals as having diabetes versus not having diabetes in a pooled analysis of data from population-based health examination surveys in different regions.

Maleendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentGlobal Health0302 clinical medicineEndocrinologyeducation.field_of_studyDiabetis//purl.org/pe-repo/ocde/ford#3.02.18 [https]Diabetes Mellitus/blood/diagnosis/epidemiologySciences bio-médicales et agricolesadultosensibilidad y especificidadhealth survey3. Good healthpriority journalCARDIOVASCULAR-DISEASEdiabetes mellitusmedicine.medical_specialtyglucosa sanguíneaSurvey samplingoral glucose tolerance test.Medical sciencesSensitivity and SpecificityArticleEndocrinology Diabetes and Metabolism; Internal Medicine; EndocrinologyEffects of diabetesHemoglobin A Glycosylated/metabolism03 medical and health sciencesfalse positive resultSDG 3 - Good Health and Well-beingDiabetes prevalenceDiabetes MellitusSYSTEMATIC ANALYSISHumanshumandiagnostic test accuracy studygross national productOLDER-ADULTSeducationprueba de tolerancia a la glucosaglycosylated hemoglobinHEMOGLOBIN A(1C) MEASUREMENTVLAGGlycated HemoglobinHemoglobin A GlycosylatedScience & TechnologyBlood Glucose/metabolismnutritional and metabolic diseasesGlucose Tolerance Testeconomic aspectmedicine.diseaseglucose blood levelGlucoseEndocrinologyagechemistryFaculdade de Ciências SociaisGlucosaGlobal surveillance of diabetesTOLERANCE TESTWORLDWIDE STANDARDIZATIONBiomarkersBiomedical sciencesBlood GlucoseSettore MED/09 - Medicina InternaNutrition and DiseasehumanosBiomarkers/metabolismInternal Medicine; Endocrinology Diabetes and Metabolism; Endocrinologygeographychemistry.chemical_compoundVoeding en ZiekteDiagnosisPrevalenceMedicine and Health Sciencesvigilancia centinela030212 general & internal medicinehemoglobin A1cUS POPULATIONDiabetes diagnosisGlucose tolerance testINSULIN-RESISTANCEmedicine.diagnostic_testResearch Support Non-U.S. Gov'tQDiabetesprevalenciaSCREENING-TESThealthArticlesGlucose bloodDiabetes and MetabolismincomePopulation-based health examination surveysFemaleLife Sciences & BiomedicineAdultPopulationpopulation groupCONSENSUS STATEMENT030209 endocrinology & metabolismGLYCATED HEMOGLOBINhigh income regionEndocrinology & MetabolismInsulin resistanceResearch Support N.I.H. ExtramuralbloodInternal medicineDiabetes mellitusparasitic diseasesJournal ArticlemedicineInternal MedicineLife Scienceddc:613business.industryInsulinbody massBiological markerFASTING PLASMA-GLUCOSECiencias socio biomédicasGlycated hemoglobinbusinessmetabolismSentinel Surveillance
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Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

2017

BACKGROUND: Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function. METHODS: A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function. RESULTS: The discovery analysis included 21 cohorts for structural and systolic function traits (n = 32,212) and 17 cohorts for diastolic function traits (n = 21,852). Replication …

0301 basic medicineMaleGenome-wide association studyBLOOD-PRESSUREResearch & Experimental Medicine030204 cardiovascular system & hematologyCoronary artery diseasegenome-wide0302 clinical medicineEPIDEMIOLOGYMyocardial infarctionGeneticsRISK11 Medical And Health SciencesGeneral Medicine3. Good healthMedicine Research & Experimentalcardiovascular systemMedical geneticsCORONARY-ARTERY-DISEASEHEART-FAILUREFemaleLife Sciences & Biomedicinemedicine.medical_specialtyHeart DiseasesImmunologyQuantitative trait locusPolymorphism Single Nucleotide03 medical and health sciencesQuantitative Trait HeritableGenetic variationmedicineHumansMETAANALYSISScience & Technologybusiness.industryMyocardiumta3121medicine.diseaseGenetic architecture030104 developmental biologyMYOCARDIAL-INFARCTIONGenetic LociHeart failureREPLICATIONClinical MedicinebusinessREDUCED EJECTION FRACTIONSUPPRESSOR GENEGenome-Wide Association Study
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Cis-epistasis at the LPA locus and risk of cardiovascular diseases.

2022

AIMS Coronary artery disease (CAD) has a strong genetic predisposition. However, despite substantial discoveries made by genome-wide association studies (GWAS), a large proportion of heritability awaits identification. Non-additive genetic-effects might be responsible for part of the unaccounted genetic variance. Here we attempted a proof-of-concept study to identify non-additive genetic effects, namely epistatic interactions, associated with CAD. METHODS AND RESULTS We tested for epistatic interactions in ten CAD case-control studies and UK Biobank with focus on 8,068 SNPs at 56 loci with known associations with CAD risk. We identified a SNP pair located in cis at the LPA locus, rs1800769 …

GeneticsPhysiologyMedizinEpistasis GeneticSingle-nucleotide polymorphismLocus (genetics)Genome-wide association studyCoronary Artery DiseaseBiologyPolymorphism Single NucleotideMinor allele frequencyCardiovascular DiseasesStatistical Genetics ; Epistasis ; Coronary Artery Diseases ; LpaPhysiology (medical)Genetic predispositionHumansAdditive genetic effectsEpistasisGenetic Predisposition to DiseaseCardiology and Cardiovascular MedicineGenome-Wide Association StudyLipoprotein(a)Genetic association
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

2016

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation o…

0301 basic medicineNephrologyGenetics and Molecular Biology (all)estimated glomerular filtration rateestimated glomerular filtration rate chronic kidney disease genetic determinantsGeneral Physics and AstronomyKidney developmentGenome-wide association studyBiochemistrySettore MED/14 - NEFROLOGIARenal InsufficiencyChronicGeneticsAGEN Consortiumddc:616education.field_of_studyKidneyStage renal-diseaseMultidisciplinaryGenome-wide associationCHARGe-Heart Failure GroupGene Expression Regulation; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic; Genetic Predisposition to Disease; Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)QChemistry (all)MetaanalysisGene Expression Regulation; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic/geneticsBiological sciencesSerum creatininemedicine.anatomical_structureEfficientRonyons -- FisiologiaHypertensionICBP ConsortiumTransmembrane transporter activitygenetic association loci kidney functionCARDIOGRAMHumanmedicine.medical_specialtyGenotypeSciencePopulationRenal functionECHOGen ConsortiumReplicationBiologyEnvironmentResearch SupportGeneral Biochemistry Genetics and Molecular BiologyN.I.H.genetic determinants03 medical and health sciencesPhysics and Astronomy (all)GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSIONKidney functionResearch Support N.I.H. ExtramuralInternal medicineMD MultidisciplinarymedicineGeneticsJournal ArticleHumanseGFRcrea; eGFRcysGenetic Predisposition to Diseaseddc:610GenetikRenal Insufficiency ChronicMortalityeducationddc:613Biochemistry Genetics and Molecular Biology (all)urogenital systemIndividualsExtramuralGeneral Chemistryta3121medicine.diseaseR1030104 developmental biologyGene Expression RegulationBiochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)570 Life sciences; biologyGenèticachronic kidney diseaseKidney diseaseGenome-Wide Association StudyMeta-Analysis
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Analyzing Illumina Gene Expression Microarray Data from Different Tissues: Methodological Aspects of Data Analysis in the MetaXpress Consortium

2012

Microarray profiling of gene expression is widely applied in molecular biology and functional genomics. Experimental and technical variations make meta-analysis of different studies challenging. In a total of 3358 samples, all from German population-based cohorts, we investigated the effect of data preprocessing and the variability due to sample processing in whole blood cell and blood monocyte gene expression data, measured on the Illumina HumanHT-12 v3 BeadChip array. Gene expression signal intensities were similar after applying the log(2) or the variance-stabilizing transformation. In all cohorts, the first principal component (PC) explained more than 95% of the total variation. Technic…

MicroarraysArray ProcessingClinical Research DesignScienceGene ExpressionSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideMolecular Genetics03 medical and health sciencesEngineering0302 clinical medicineGenome Analysis ToolsGermanyWhite blood cellGene expressionGenome-Wide Association StudiesGeneticsmedicineHumansGenome SequencingStatistical MethodsBiologyOligonucleotide Array Sequence Analysis030304 developmental biologyWhole bloodGenetics0303 health sciencesMultidisciplinaryGene Expression ProfilingQRComputational BiologyReproducibility of ResultsHuman GeneticsGenomicsGene expression profilingMinor allele frequencymedicine.anatomical_structure030220 oncology & carcinogenesisSignal ProcessingMedicineRNA extractionFunctional genomicsResearch ArticlePLoS ONE
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DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning

2020

Genome-wide association studies (GWAS) identify genetic variants associated with traits or diseases. GWAS never directly link variants to regulatory mechanisms. Instead, the functional annotation of variants is typically inferred by post hoc analyses. A specific class of deep learning-based methods allows for the prediction of regulatory effects per variant on several cell type-specific chromatin features. We here describe “DeepWAS”, a new approach that integrates these regulatory effect predictions of single variants into a multivariate GWAS setting. Thereby, single variants associated with a trait or disease are directly coupled to their impact on a chromatin feature in a cell type. Up to…

0301 basic medicineMultivariate analysisGene ExpressionGenome-wide association studyBiochemistry0302 clinical medicineGenotypeMedicine and Health SciencesBiology (General)0303 health sciencesDNA methylationEcologyChromosome BiologyNeurodegenerative DiseasesGenomicsChromatinChromatinNucleic acidsNeurologyComputational Theory and MathematicsModeling and SimulationDNA methylationTraitEpigeneticsDNA modificationFunction and Dysfunction of the Nervous SystemChromatin modificationResearch ArticleMultiple SclerosisQH301-705.5Quantitative Trait LociImmunologySingle-nucleotide polymorphismComputational biologyBiologyQuantitative trait locusPolymorphism Single NucleotideAutoimmune DiseasesMolecular Genetics03 medical and health sciencesCellular and Molecular NeuroscienceDeep LearningGenome-Wide Association StudiesGeneticsHumansGeneMolecular BiologyGenetic Association StudiesEcology Evolution Behavior and Systematics030304 developmental biologyGenetic associationBiology and Life SciencesComputational BiologyHuman GeneticsCell BiologyDNAGenome AnalysisDemyelinating Disorders030104 developmental biologyGenetic LociMultivariate AnalysisClinical ImmunologyClinical Medicine030217 neurology & neurosurgeryGenome-Wide Association StudyPLOS Computational Biology
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Troponin I and cardiovascular risk prediction in the general population: the BiomarCaRE consortium

2016

AIMS: Our aims were to evaluate the distribution of troponin I concentrations in population cohorts across Europe, to characterize the association with cardiovascular outcomes, to determine the predictive value beyond the variables used in the ESC SCORE, to test a potentially clinically relevant cut-off value, and to evaluate the improved eligibility for statin therapy based on elevated troponin I concentrations retrospectively.METHODS AND RESULTS: Based on the Biomarkers for Cardiovascular Risk Assessment in Europe (BiomarCaRE) project, we analysed individual level data from 10 prospective population-based studies including 74 738 participants. We investigated the value of adding troponin …

Relative risk reductionPathologymedicine.medical_specialtyBIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAPopulationBiomarker For Cardiovascular Risk Assessment In Europe ; Cardiovascular Risk ; High-sensitivity Assayed Troponin I ; Monica Risk Genetics Archiving And Monograph ; Mortality030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingInternal medicineTroponin IMedicineRosuvastatin030212 general & internal medicineMortalityeducationBiomarker for Cardiovascular Risk Assessment in Europe; Cardiovascular risk; High-sensitivity assayed troponin I; MONICA Risk Genetics Archiving and Monograph; Mortalityeducation.field_of_studyFramingham Risk Scorebiologybusiness.industryHazard ratioAbsolute risk reductionBiomarker for Cardiovascular Risk Assessment in EuropeCardiovascular riskMONICA Risk Genetics Archiving and MonographTroponinHigh-sensitivity assayed troponin I3. Good healthCardiologybiology.protein/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCardiology and Cardiovascular Medicinebusinessmedicine.drugEuropean Heart Journal
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …

2023

Funder: British Lung Foundation (BLF); doi: https://doi.org/10.13039/501100000351

hengityselimetgenome-wide association studiesperimä/631/208/205/2138/45/43articlekeuhkosairaudethengityselinten tauditriskitekijät/692/699/1785keuhkotperinnöllisyysrespiratory tract diseases
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Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study

2021

Abstract It is still unclear how genetic information, provided as single‐nucleotide polymorphisms (SNPs), can be most effectively integrated into risk prediction models for coronary heart disease (CHD) to add significant predictive value beyond clinical risk models. For the present study, a population‐based case‐cohort was used as a trainingset (451 incident cases, 1488 noncases) and an independent cohort as testset (160 incident cases, 2749 noncases). The following strategies to quantify genetic information were compared: A weighted genetic risk score including Metabochip SNPs associated with CHD in the literature (GRSMetabo); selection of the most predictive SNPs among these literature‐co…

Oncologymedicine.medical_specialtyEpidemiologyFramingham Risk Score ; Metabochip ; Coronary Heart Disease ; Genomic Risk Prediction ; Priority-lassoPopulationCoronary DiseaseSingle-nucleotide polymorphismKoronare HerzkrankheitPolymorphism Single NucleotideRisk AssessmentCohort Studies03 medical and health sciencesRisk FactorsInternal medicinemedicineHumansgenomic risk predictionddc:610coronary heart diseaseMetabochipGenetikeducationGenotypingGenetics (clinical)030304 developmental biologypriority‐Lasso0303 health scienceseducation.field_of_studyFramingham Risk ScoreModels GeneticProportional hazards modelbusiness.industry030305 genetics & heredityGenomicsConfidence intervalddc:Coronary disease; GeneticsRisk factorsCohortFramingham risk scorebusinessDDC 610 / Medicine &amp; healthPredictive modelling
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Additional file 1 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 1: Supplementary Tables.

InformationSystems_INFORMATIONSTORAGEANDRETRIEVALComputingMethodologies_DOCUMENTANDTEXTPROCESSINGComputingMilieux_COMPUTERSANDEDUCATIONData_FILESComputerApplications_COMPUTERSINOTHERSYSTEMS
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Methylation status of VTRNA2-1/nc886 is stable across populations, monozygotic twin pairs and in majority of tissues. Supplementary data

2022

Supplementary Table 1. This study used 48 DNA methylation datasets, including DILGOM, FTC, ERMA, KORA, LURIC, NELLI, SATSA and YFS as well as 39 datasets available in the Gene Expression Omnibus (GEO) [29] consisting of &gt;30 tissues and &gt;30,000 individuals. Supplementary Table 2. Differences in the proportion of individuals with imprinted nc886 locus between sexes or in a case–control setting. Supplementary Table 3. Of these discordant pairs, one co-twin was always intermediately methylated, whereas the other co-twin was either imprinted or nonmethylated in all cases – that is, no twin pairs were identified in which one co-twin was imprinted and the other was nonmethylated. Supplementa…

Epigenetics (incl. genome methylation and epigenomics)
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Additional file 2 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 2. Supplementary Tables -Tables S1-S31.

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Additional file 2 of Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Additional file 2. Supplementary Tables -Tables S1-S31.

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Additional file 2 of Network reconstruction for trans acting genetic loci using multi-omics data and prior information

2022

Additional file 2 Supplementary tables, large supporting tables with table titles as tabs.

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