0000000000201175

AUTHOR

A. Hofman

showing 4 related works from this author

Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium

2011

Objective: To address the need for standardization of osteoarthritis (OA) phenotypes by examining the effect of heterogeneity among symptomatic (SOA) and radiographic osteoarthritis (ROA) phenotypes. Methods: Descriptions of OA phenotypes of the 28 studies involved in the TREAT-OA consortium were collected. We investigated whether different OA definitions result in different association results by creating various hip OA definitions in one large population based cohort (the Rotterdam Study I (RSI)) and testing those for association with gender, age and body mass index using one-way ANOVA. For ROA, we standardized the hip-, knee- and hand ROA definitions and calculated prevalence's of RO…

Malenivelrikkomedicine.medical_specialtygenetiikkaBiomedical EngineeringMEDLINEdiagnostiset kriteeritOsteoarthritisbehavioral disciplines and activitiesArticleCohort Studies03 medical and health sciencesRotterdam Study0302 clinical medicineRheumatologyInternal medicineTREATOAOsteoarthritismedicinePrevalenceGeneticsHumansOrthopedics and Sports Medicine030304 developmental biologyRheumatology and Autoimmunity2. Zero hunger030203 arthritis & rheumatology0303 health sciencesAnalysis of Varianceperinnöllisyystiedebusiness.industryCase-control studyDefinitionReference Standardsmedicine.diseaseGenetics Osteoarthritis Phenotype Definition TREATOA genome-wide association radiographic hip osteoarthritis bone-mineral density knee osteoarthritis hand osteoarthritis osteoporotic fractures general-population joint involvement risk-factors susceptibilityRheumatology3. Good healthPhenotypeCase-Control Studiesdiagnostic criteriaCohortPhysical therapyFemalebusinessBody mass indexCohort study
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Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

2013

The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses i…

MaleNetherlands Twin Register (NTR)Genetic LinkageMedizinGene ExpressionGenome-wide association studyVARIANTSBody Mass Index0302 clinical medicinegenetic linkageTransforming Growth Factor betaNeoplasmsmolecular biologygeneticsChildGenetics (clinical)Adiposity2. Zero hunger0303 health sciencesadiposityMitogen-Activated Protein Kinase 3Association Studies ArticlesAge FactorsACHONDROPLASIAGeneral MedicineGenome-Wide Association Study; pubertal height growth; pubertal timingPhenotypeOBESITYMenarche/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingbody heightFemaleSignal Transductionmedicine.medical_specialtyage factorsCHROMOSOME 16P11.2AdolescentBIRTHQuantitative Trait Loci030209 endocrinology & metabolismContext (language use)BiologyChildhood obesitypubertal height growthMENARCHEYoung Adult03 medical and health sciencesAGESDG 3 - Good Health and Well-beingPrepubertyInternal medicineGeneticsmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansMolecular Biology030304 developmental biologySignMenarcheFACTOR RECEPTOR-3MUTATIONSpubertal timingPubertyta3121medicine.diseaseObesityBody HeightGenetic architectureEndocrinologyPOPULATION COHORTgene expressionBody mass indexFollow-Up StudiesGenome-Wide Association Study
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

2013

Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locu…

MaleApolipoprotein Eepidemiology [Alzheimer Disease]SORL1Medizingenetics [Alzheimer Disease]Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticlePICALMCohort StudiesAlzheimer Diseaseddc:570PSEN2GeneticsmedicineHumansGenetic Predisposition to DiseaseAge of OnsetBiologyAgedGenetic associationAged 80 and overGeneticsMiddle Agedmedicine.diseaseGenetic LociCase-Control StudiesFemaleHuman medicineAlzheimer's diseasestatistics & numerical data [Genome-Wide Association Study]Genome-Wide Association StudyNature Genetics
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