0000000000795633

AUTHOR

David Karasik

0000-0002-8826-0530

showing 3 related works from this author

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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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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A Polymorphism in a Gene Encoding Perilipin 4 Is Associated with Height but not with Bone Measures in Individuals from the Framingham Osteoporosis St…

2011

There is increasing interest in identifying new pathways and candidate genes that confer susceptibility to osteoporosis. There is evidence that adipogenesis and osteogenesis may be related, including a common bone marrow progenitor cell for both adipocytes and osteoblasts. Perilipin 1 (PLIN1) and Perilipin 4 (PLIN4) are members of the PATS family of genes and are involved in lipolysis of intracellular lipid deposits. A previous study reported gender-specific associations between one polymorphism of PLIN1 and bone mineral density (BMD) in a Japanese population. We hypothesized that polymorphisms in PLIN1 and PLIN4 would be associated with bone measures in adult Caucasian participants of the …

MalePerilipin-1medicine.medical_specialtyCandidate geneGenotypeBone densityEndocrinology Diabetes and MetabolismOsteoporosisSingle-nucleotide polymorphismBiologyPerilipin-4Polymorphism Single NucleotideArticleAbsorptiometry PhotonEndocrinologyBone DensityInternal medicinemedicineBone mineral densityHumansSNPGenetic Predisposition to DiseaseOrthopedics and Sports MedicineHuman heightBone mineralBone geometryFramingham Osteoporosis StudyMiddle AgedPhosphoproteinsmedicine.diseaseBody HeightPerilipin 4EndocrinologyPerilipin 1PerilipinOsteoporosisFemaleCarrier Proteins
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