0000000000485970

AUTHOR

Rachel M. Freathy

0000-0003-4152-2238

showing 4 related works from this author

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

2020

The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located nearNEDD4LandSLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 d…

MaleGenetic-variationNedd4 Ubiquitin Protein LigasesPooled AnalysisBlood Pressure0302 clinical medicineHuman geneticsMendelian RandomizationYoung adultChildhealth care economics and organizationsBody mass indexAdiposityGenetics & Heredity0303 health sciencesStatistics1184 Genetics developmental biology physiologyGenomicsadulto3. Good healthCardiovascular DiseasesChild PreschoolPhysical SciencesMenarchegenetic-variationpresión sanguíneaMonosaccharide Transport ProteinsGenetic locieducationenfermedades cardiovascularesProstate-specific AntigenGenetic correlation03 medical and health sciencesSDG 3 - Good Health and Well-beingDiabetes MellitusGeneticsHumansprostate-specific antigenStatistical MethodsMolecular BiologyEcology Evolution Behavior and Systematicschildhood0604 Genetics[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & TechnologyEarly Growth Genetics ConsortiumBiology and Life SciencesComputational Biologynutritional and metabolic diseasesSingle nucleotide polymorphismsMendelian Randomization AnalysisBiological TissueDiabetes Mellitus Type 2estudio de asociación genómica completagenetic factorsmendelian randomizationanálisis de la aleatorización mendelianaproteínas de transporte de monosacáridosBody mass index030217 neurology & neurosurgeryMathematicsDemographyDevelopmental BiologyCardiovascular RiskCancer ResearchobesityPhysiologyhumanosadolescenteOverweightQH426-470Genome-wide association studiesWaist–hip ratioMathematical and Statistical TechniquesMedicine and Health Sciencesbody mass index (BMI)Genetics of diseaseGenetics (clinical)2. Zero hungeradiposityMetaanalysisPhysiological ParametersConnective Tissue/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalemedicine.symptomAnatomypooled analysisLife Sciences & BiomedicineResearch ArticleAdultcardiovascular riskAdolescentBirth weightmenarquiaAdipose tissueBiology3121 Internal medicineResearch and Analysis MethodsmedicineoverweightGenetic Predisposition to DiseaseObesity030304 developmental biologyMenarcheWaist-Hip Ratioíndice de masa corporalBody WeightCardiometabolic Risk Factorspredisposición genética a la enfermedadHeritabilityOverweightGenome Analysisyoung-adultsGenome-wide Associationíndice cintura-caderaYoung-adultsgenome-wide associationGenome-Wide Association StudyPLoS genetics
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

2019

AbstractBirth weight (BW) variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. These associations have been proposed to reflect the lifelong consequences of an adverse intrauterine environment. In earlier work, we demonstrated that much of the negative correlation between BW and adult cardio-metabolic traits could instead be attributable to shared genetic effects. However, that work and other previous studies did not systematically distinguish the direct effects of an individual’s own genotype on BW and subsequent disease risk from indirect effects of their mother’s correlated genoty…

MaleNetherlands Twin Register (NTR)LD SCORE REGRESSIONBirth Weight/geneticsPhysiologyGenome-wide association studyBLOOD-PRESSUREBlood PressureType 2 diabetesDISEASEFetal Development0302 clinical medicineModelsPregnancyRisk FactorsGenotypeBirth Weightmaternal genetic030212 general & internal medicineMaternal-Fetal Exchange0303 health sciencesBody Height/genetics1184 Genetics developmental biology physiologyHeart Diseases/etiologySingle NucleotideASSOCIATIONMetabolic Diseases/etiology3. Good healthType 2/etiologyMENDELIAN RANDOMIZATIONGROWTH/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleMaternal InheritanceMaternal Inheritance/geneticsAdultBlood Pressure/geneticsHeart DiseasesOffspringBirth weightcardio-metabolic health outcomesBiologyDiabetes Mellitus Type 2/etiologyPolymorphism Single NucleotideArticle03 medical and health sciencesGeneticMetabolic DiseasesSDG 3 - Good Health and Well-beingDiabetes mellitusMendelian randomizationGeneticsmedicineDiabetes Mellitus/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to DiseasePolymorphism030304 developmental biologyGlycemicPregnancyFetusIDENTIFICATIONModels GeneticInfant NewbornInfantbirth weightDIABETES-MELLITUSmedicine.diseaseNewbornFetal Development/geneticsBody HeightMaternal-Fetal Exchange/geneticsLIFEBlood pressureDiabetes Mellitus Type 2ORIGINSInstitut für Ernährungswissenschaft030217 neurology & neurosurgeryGenome-Wide Association Study
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Genome-wide associations for birth weight and correlations with adult disease

2016

Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P < 5 × 10(-8)). Overall, approximately 15% of variance in BW was captured by assays of fetal genetic variation. Using genet…

Male0301 basic medicineNetherlands Twin Register (NTR)AgingDatasets as TopicPhysiologyBlood PressureGenome-wide association studyCoronary Artery DiseaseType 2 diabetesBioinformaticsCHARGE Consortium Hematology Working GroupCohort Studies0302 clinical medicineBirth WeightInsulinGlucose homeostasis030212 general & internal medicineeducation.field_of_studyMultidisciplinaryAnthropometry3. Good healthPhenotype/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleGlycogenSignal TransductionAdulthypertensionGenotypeGeneral Science & TechnologyBirth weightintrauterine growthPopulationQuantitative trait locusBiologyArticlequantitative traitGenomic Imprinting03 medical and health sciencesFetusSDG 3 - Good Health and Well-beingEarly Growth Genetics (EGG) ConsortiumMD MultidisciplinaryGenetic variation/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineHumansmetabolic disordersGenetic Predisposition to DiseaseeducationgenomeGenetic associationGenetic Variationbirth weightta3121Chromatin Assembly and Disassemblymedicine.diseaseta3123Glucose030104 developmental biologyDiabetes Mellitus Type 2Genetic Locigenome-wide association studiesadult diseaseGenome-Wide Association Study
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Maternal and fetal genetic contribution to gestational weight gain

2018

Background: Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes (maternal fat deposition and vascular expansion, placenta, amniotic fluid and fetal growth). Understanding the genetic contribution to GWG could help clarify the potential effect of its different components on maternal and offspring health. Here we explore the genetic contribution to total, early and late GWG. Participants and methods: A genome-wide association study was used to identify maternal and fetal variants contributing to GWG in up to 10 543 mothers and 16 317 offspri…

0301 basic medicineAmniotic fluidEpidemiologyEndocrinology Diabetes and MetabolismEmbaràsMedicine (miscellaneous)Genome-wide association studyBLOOD-PRESSUREType 2 diabetes030204 cardiovascular system & hematology/dk/atira/pure/core/keywords/icepCOMMON SNPSGenètica mèdica0302 clinical medicinePregnancyWeight managementOFFSPRING ADIPOSITYMass index11 Medical and Health Sciences2. Zero hunger0303 health sciencesNutrition and DieteticsObstetricsHERITABILITYMedical geneticsta3141ASSOCIATIONGestational Weight Gainddc:3. Good healthGestational diabetesCHILDREN ALSPACmedicine.anatomical_structurePREGNANCYOBESITYMENDELIAN RANDOMIZATIONGestationOriginal ArticleFemaleICEPmedicine.symptomLife Sciences & Biomedicine13 EducationTRAITSmedicine.medical_specialtyOffspringBirth weightPes corporalDevelopmentBiology03 medical and health sciencesEndocrinology & MetabolismFetusPlacentaInternal medicinemedicineJournal ArticleHumans030304 developmental biologyFetusPregnancyScience & TechnologyNutrition & Dieteticsbusiness.industryta3121Body weightmedicine.diseaseta3123BIRTH-WEIGHTBODY-MASS INDEX030104 developmental biologyEndocrinologybusinessBody mass indexWeight gainHUMAN HEIGHTGenome-Wide Association Study
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