0000000000485978

AUTHOR

Carolina Medina-gomez

0000-0001-7999-5538

showing 6 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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Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

2014

Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and repli…

MaleOncologyHeelBone densityOsteoporosisGenome-wide association studyCohort StudiesFractures Bonequantitative ultrasoundBone DensityGenetics (clinical)riskUltrasonographyAged 80 and overGeneticsmedicine.diagnostic_testAssociation Studies Articlesphenotypesta3141General MedicineMiddle Aged3. Good healthmedicine.anatomical_structureosteoporosis diagnostic radiologic examination roentgen rays ultrasonography bone mineral density fractures calcaneus chromosomes genes genome heel longevity single nucleotide polymorphism sound genetics chromosome 7q31 genotype determination genome-wide association study attenuation osteoporotic fracture risk/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalewomenAdultmusculoskeletal diseasesmedicine.medical_specialtyx-ray absorptiometrySingle-nucleotide polymorphismdensitometryBiologyPolymorphism Single NucleotidecalcaneusYoung AdultSDG 3 - Good Health and Well-beingInternal medicineGeneticsmedicineHumansGenetic Predisposition to DiseaseMolecular BiologyDual-energy X-ray absorptiometryVLAGAgedGlobal NutritionWereldvoedingta1184ta3121medicine.diseaseosteoporosisCalcaneusGenetic epidemiologyfractureOsteoporosismineral densityCalcaneusGenome-Wide Association Study
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A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways

2016

More than a million childhood diarrhoeal episodes occur worldwide each year, and in developed countries a considerable part of them are caused by viral infections. In this study, we aimed to search for genetic variants associated with diarrhoeal disease in young children by meta-analyzing genome-wide association studies, and to elucidate plausible biological mechanisms. The study was conducted in the context of the Early Genetics and Lifecourse Epidemiology (EAGLE) consortium. Data about diarrhoeal disease in two time windows (around 1 year of age and around 2 years of age) was obtained via parental questionnaires, doctor interviews or medical records. Standard quality control and statistic…

0301 basic medicineDiarrheaMalemedicine.medical_specialtyGenotypePopulationGenome-wide association studyBiologymedicine.disease_causePolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineRotavirusEpidemiologyGeneticsmedicineHumansGenetic Predisposition to Disease030212 general & internal medicine1000 Genomes ProjectAlleleeducationMolecular BiologyGenetics (clinical)AllelesGenetic associationGeneticseducation.field_of_studyAssociation Studies ArticlesInfantGeneral MedicineFucosyltransferases3. Good health030104 developmental biologyChild PreschoolImmunologyFemaleImputation (genetics)Genome-Wide Association Study
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

2012

Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10 -8). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral…

MaleBone densityOsteoporosisGenome-wide association studyMitochondrial Membrane Transport ProteinsBone densitometryFractures Bone0302 clinical medicineBone DensityRisk FactorsFemurGeneticsBone mineral0303 health scienceseducation.field_of_studyExtracellular Matrix ProteinsLumbar VertebraeFemur Neckta3141medicine.anatomical_structureLow Density Lipoprotein Receptor-Related Protein-5/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingIntercellular Signaling Peptides and ProteinsFemaleGensmusculoskeletal diseases/dk/atira/pure/subjectarea/asjc/1300/1311GenotypePopulationEuropean Continental Ancestry GroupQuantitative Trait Loci030209 endocrinology & metabolismVèrtebres lumbarsBiologyFèmurPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingDensitometria òssiaGeneticsmedicineHumansGenetic Predisposition to Diseaseeducation030304 developmental biologyFemoral neckGenetic associationGlycoproteinsGene Expression ProfilingComputational BiologySpectrinta3121medicine.diseasePhosphoproteinsGenesOsteoporosisMesenchymal stem cell differentiationHuman medicineFracturesGenome-Wide Association Study
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