0000000000795624

AUTHOR

J. Brent Richards

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
researchProduct

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
researchProduct

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

2017

Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10−8, METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the de…

0301 basic medicineMaleCandidate genegenetics [Trans-Activators]SRD5A2 protein humanMedizinGeneral Physics and Astronomygenetics [3-Oxo-5-alpha-Steroid 4-Dehydrogenase]Genome-wide association studyBioinformatics0302 clinical medicinegenetics [Interferon Regulatory Factors]GenotypeMelatoninGeneticsMultidisciplinaryAdipogenesisEBF1 protein humanintegumentary systemgenetics [Intercellular Signaling Peptides and Proteins]QPhenotypeFGF5 protein humangenetics [Membrane Proteins]Phenotype030220 oncology & carcinogenesisMeta-analysisUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Interferon Regulatory FactorsIntercellular Signaling Peptides and ProteinsMale-pattern baldnessddc:500Signal TransductionDKK2 protein humanGenotypeFibroblast Growth Factor 53-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics; Adipogenesis/genetics; Alopecia/genetics; Case-Control Studies; Fibroblast Growth Factor 5/genetics; Genetic Association Studies; Genome-Wide Association Study; Genotype; Humans; Intercellular Signaling Peptides and Proteins/genetics; Interferon Regulatory Factors/genetics; Male; Melatonin; Membrane Proteins/genetics; Phenotype; Signal Transduction/genetics; Trans-Activators/geneticsScienceGenomicsBiologygenetics [Signal Transduction]General Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesinterferon regulatory factor-43-Oxo-5-alpha-Steroid 4-DehydrogenasemedicineHumansgenetics [Adipogenesis]Genetic Association Studiesgenetics [Alopecia]Case-control studyMembrane ProteinsAlopeciaGeneral Chemistrymedicine.diseasegenetics [Fibroblast Growth Factor 5]030104 developmental biologyCase-Control StudiesTrans-ActivatorsGenome-Wide Association Study
researchProduct