SynthesisAmerican journal of human genetics2018
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
Abstract readMeta-Analysis
In one paragraph
Synthesis in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 216 papers, 11 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
216citing papers in PubMed, 11 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
216 citing papers in PubMed, 11 syntheses or guidelines pooled it.
- Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Pooled it
- Meta-regression of genome-wide association studies to estimate age-varying genetic effects.European journal of epidemiology · 2024Pooled it
- Pooled it
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.Annals of the rheumatic diseases · 2023Pooled it
- Investigating the causal relationship between ankylosing spondylitis and osteoporosis in the European population: a bidirectional Mendelian randomization study.Frontiers in immunology · 2023Pooled it
- ANNORE: genetic fine-mapping with functional annotation.Human molecular genetics · 2021Pooled it
- The Genetics of Atypical Femur Fractures-a Systematic Review.Current osteoporosis reports · 2021Pooled it
- Three pleiotropic loci associated with bone mineral density and lean body mass.Molecular genetics and genomics : MGG · 2021Pooled it
- Two novel pleiotropic loci associated with osteoporosis and abdominal obesity.Human genetics · 2020Pooled it
- Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.Communications biology · 2020Pooled it
- Trends in Low Bone Density-Related Fall Burden and Mendelian Randomization Evidence on Waist Circumference and Bone Density - China, 1990-2023.China CDC weekly · 2026Article
- Assessing the causal influence of biomechanical factors on osteoporosis risk: A multivariable Mendelian randomization investigation.Medicine · 2026Article
- Causal effects among hypertension, osteoporosis, and metabolites: A Mendelian randomization study.Journal of the Chinese Medical Association : JCMA · 2026Article
- Precision medicine for atherosclerotic cardiovascular disease: Integrative genomics maps risk loci and AI-predicted functional consequences.Clinical and translational medicine · 2026Article
- The SINTER study: a recall-by-genotype design with multidimensional musculoskeletal phenotyping across internal-medicine outpatient clinics.European journal of epidemiology · 2026Article
- BMI-Dependent Correlations of Sex Hormone Genes with Simple Endometrial Hyperplasia.Life (Basel, Switzerland) · 2026Article
- Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.Nature communications · 2026Article
- Pathway-Level Reorganization of Genetic Signals Associated with Low Bone Mineral Density Across the Menopausal Transition.International journal of molecular sciences · 2026Article
- The association of nitrate exposure with bone mineral density in adolescents aged 12 to 19: A cross-sectional study.Medicine · 2026Article
156 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
89 authors.
Carolina Medina-GomezDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands; The Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
John P KempUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD 4102, Australia; MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK.
Katerina TrajanoskaDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
Alessandra ChesiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Tarunveer S AhluwaliaCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark; Steno Diabetes Center, Copenhagen 2820, Denmark.
Dennis O Mook-KanamoriDepartment of Clinical Epidemiology, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands; Department of Public Health and Primary Care, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.
Annelies HamDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Fernando P HartwigPostgraduate Program in Epidemiology, Federal University of Pelotas, 96020220 Pelotas, Brazil.
Daniel S EvansCalifornia Pacific Medical Center Research Institute, San Francisco, CA 94107, USA.
Raimo JoroInstitute of Biomedicine, Physiology, University of Eastern Finland, Kuopio 70211, Finland.
Ivana NedeljkovicDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Hou-Feng ZhengDepartments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, QC H3A 1A2, Canada; Department of Medicine, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Westlake University, Hangzhou, 100080 Zhejiang, China; Institute of Aging Research and the Affiliated Hospital, School of Medicine, Hangzhou Normal University, Hangzhou, 311121 Zhejiang, China.
Kun ZhuDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA 6009, Australia.
Mustafa AtalayInstitute of Biomedicine, Physiology, University of Eastern Finland, Kuopio 70211, Finland.
Ching-Ti LiuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA 02131, USA.
Maria NethanderBioinformatics Core Facility, Sahlgrenska Academy, University of Gothenburg, 41390 Gothenburg, Sweden.
Linda BroerDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Gudmar PorleifssondeCODE Genetics/Amgen, Reykjavik 101, Iceland.
Benjamin H MullinDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA 6009, Australia.
Samuel K HandelmanDepartment of Obstetrics and Gynecology, Wayne State University, Detroit, MI 48201, USA.
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD 20812, USA.
Leon E JessenCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark.
Denise H M HeppeThe Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
J Brent RichardsDepartments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, QC H3A 1A2, Canada; Department of Medicine, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada.
Carol WangSchool of Women's and Infants' Health, University of Western Australia, Crawley, WA 6009, Australia.
Bo ChawesCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark.
Katharina E SchrautCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH16 4UX, Scotland; Centre for Cardiovascular Sciences, Queen's Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, Scotland.
Najaf AminDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Nick WarehamMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
David KarasikHebrew SeniorLife, Institute for Aging Research, Roslindale, MA 02131, USA; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed 1311502, Israel.
Nathalie Van der VeldeDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Internal Medicine, Section of Geriatrics, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
M Arfan IkramDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Babette S ZemelDivision of GI, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Yanhua ZhouDepartment of Biostatistics, Boston University School of Public Health, Boston, MA 02131, USA.
Christian J CarlssonCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark.
Yongmei LiuWake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Fiona E McGuiganLund University, Department of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, 20502 Malmö, Sweden.
Cindy G BoerDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Klaus BønnelykkeCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark.
Stuart H RalstonCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland.
John A RobbinsDepartment of Medicine, University of California, Davis, Sacramento, CA 95817, USA.
John P WalshDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA 6009, Australia.
M Carola ZillikensDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
Ruifang Li-GaoDepartment of Clinical Epidemiology, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.
Frances M K WilliamsDepartment of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Tamara B HarrisLaboratory of Epidemiology and Population Sciences, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Kristina AkessonLund University, Department of Clinical Sciences Malmö, Clinical and Molecular Osteoporosis Research Unit, 20502 Malmö, Sweden; Skåne University Hospital, Department of Orthopedics, 21428 Malmö, Sweden.
Rebecca D JacksonDivision of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA.
Gunnar SigurdssonDepartment of Endocrinology and Metabolism, Landspitali, The National University Hospital of Iceland, Reykjavik 101, Iceland; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Martin den HeijerDepartment of Clinical Epidemiology, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands; Department of Clinical Epidemiology and Department of Internal Medicine, VU Medical Center, 1081 HV Amsterdam, the Netherlands.
Bram C J van der EerdenDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Jeroen van de PeppelDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Timothy D SpectorDepartment of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Craig PennellSchool of Women's and Infants' Health, University of Western Australia, Crawley, WA 6009, Australia.
Bernardo L HortaPostgraduate Program in Epidemiology, Federal University of Pelotas, 96020220 Pelotas, Brazil.
Janine F FelixThe Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Pediatrics, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Jing Hua ZhaoMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
Scott G WilsonDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA 6009, Australia; Department of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Renée de MutsertDepartment of Clinical Epidemiology, Leiden University Medical Centre, 2333 ZA Leiden, the Netherlands.
Hans BisgaardCOPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark.
Unnur StyrkársdóttirdeCODE Genetics/Amgen, Reykjavik 101, Iceland.
Vincent W JaddoeThe Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Pediatrics, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Eric OrwollDepartment of Public Health & Preventive Medicine, Oregon Health & Science University, Portland, OR 97239, USA.
Timo A LakkaInstitute of Biomedicine, Physiology, University of Eastern Finland, Kuopio 70211, Finland; Kuopio Research Institute of Exercise Medicine, Kuopio 70100, Finland; Department of Clinical Physiology and Nuclear Medicine, Kuopio University Hospital, Kuopio 70210, Finland.
Robert ScottMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, UK.
Struan F A GrantDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Mattias LorentzonGeriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg, 40530 Gothenburg, Sweden.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
James F WilsonCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH16 4UX, Scotland; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland.
Kari StefanssondeCODE Genetics/Amgen, Reykjavik 101, Iceland; Department of Endocrinology and Metabolism, Landspitali, The National University Hospital of Iceland, Reykjavik 101, Iceland.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA 98101, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA.
Douglas P KielHebrew SeniorLife, Institute for Aging Research, Roslindale, MA 02131, USA; Department of Medicine Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA.
Claes OhlssonCenter for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, 41345 Gothenburg, Sweden.
Evangelia NtzaniDepartment of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece.
Andre J van WijnenDepartment of Orthopedic Surgery, Mayo Clinic, Rochester, MN 55905, USA.
Vincenzo ForgettaDepartments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, QC H3A 1A2, Canada; Department of Medicine, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada.
Mohsen GhanbariDepartment of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
John G LoganMolecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London W12 0NN, UK.
Graham R WilliamsMolecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London W12 0NN, UK.
J H Duncan BassettMolecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London W12 0NN, UK.
Peter I CroucherGarvan Institute of Medical Research, Sydney, NSW 2010, Australia.
Evangelos EvangelouDepartment of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK.
Andre G UitterlindenDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands; The Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands.
Cheryl L Ackert-BicknellCenter for Musculoskeletal Research, University of Rochester, Rochester, NY 14642,USA.
Jonathan H TobiasSchool of Clinical Sciences, University of Bristol, Bristol BS10 5NB, UK.
David M EvansUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD 4102, Australia; MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK.
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus MC, 3000 CA Rotterdam, the Netherlands; The Generation R Study Group, Erasmus MC, 3000 CA Rotterdam, the Netherlands; Department of Epidemiology, Erasmus MC, 3000 CA Rotterdam, the Netherlands. Electronic address: f.rivadeneira@erasmusmc.nl.
Funding
Transgenic AnimalP30CA016058 · NCI · OHIO STATE UNIVERSITY · 1985 to 2025
$46.0MOregon Clinical and Translational Research InstituteUL1TR002369 · OREGON HEALTH & SCIENCE UNIVERSITY · 2025 to 2025
$9.9MStudy of Osteoporotic FracturesR01AG005407 · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · 1986 to 2005
$8.5MEuropean Research Council 648916Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MC_UU_00007/10Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12015/1Medical Research Council MR/M004422/1Medical Research Council MR/N003284/1NCATS NIH HHS UL1 TR002369NCI NIH HHS P30 CA016058NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIAMS NIH HHS U01 AR066160NIA NIH HHS R01 AG005407NIA NIH HHS R01 AG027574
Abstract
Bone mineral density (BMD) assessed by DXA is used to evaluate bone health. In children, total body (TB) measurements are commonly used; in older individuals, BMD at the lumbar spine (LS) and femoral neck (FN) is used to diagnose osteoporosis. To date, genetic variants in more than 60 loci have been identified as associated with BMD. To investigate the genetic determinants of TB-BMD variation along the life course and test for age-specific effects, we performed a meta-analysis of 30 genome-wide association studies (GWASs) of TB-BMD including 66,628 individuals overall and divided across five age strata, each spanning 15 years. We identified variants associated with TB-BMD at 80 loci, of which 36 have not been previously identified; overall, they explain approximately 10% of the TB-BMD variance when combining all age groups and influence the risk of fracture. Pathway and enrichment analysis of the association signals showed clustering within gene sets implicated in the regulation of cell growth and SMAD proteins, overexpressed in the musculoskeletal system, and enriched in enhancer and promoter regions. These findings reveal TB-BMD as a relevant trait for genetic studies of osteoporosis, enabling the identification of variants and pathways influencing different bone compartments. Only variants in ESR1 and close proximity to RANKL showed a clear effect dependency on age. This most likely indicates that the majority of genetic variants identified influence BMD early in life and that their effect can be captured throughout the life course.
Indexed as
Genome-Wide Association StudyAdolescentAge FactorsAnimalsBone DensityChildChild, PreschoolGenetic LociHumansInfantInfant, NewbornMice, KnockoutPolymorphism, Single NucleotideQuantitative Trait, HeritableRegression Analysisage-dependent effectsBMDbone mineral densityCREB3L1ESR1fracturegenetic correlationgenome-wide association studiesGWASsmeta-regressionRANKLtotal-body DXA
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