0000000000201155

AUTHOR

Thorvaldur Ingvarsson

showing 2 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 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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