ArticleAnnals of the rheumatic diseases2018
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
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Article in Annals of the rheumatic diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed.
- Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis.International journal of molecular sciences · 2025Review
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
- Identification of Transcripts with Shared Roles in the Pathogenesis of Postmenopausal Osteoporosis and Cardiovascular Disease.International journal of molecular sciences · 2024Article
- The role of genetic and epigenetic factors in determining the risk of spinal fragility fractures: new insights in the management of spinal osteoporosis.Quantitative imaging in medicine and surgery · 2023Review
- Anaphase-Promoting Complex Subunit 1 Associates with Bone Mineral Density in Human Osteoporotic Bone.International journal of molecular sciences · 2023Article
- Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.Bone research · 2021Review
- The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Review
- Epigenetic Regulation of Skeletal Tissue Integrity and Osteoporosis Development.International journal of molecular sciences · 2020Review
- Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- Recent Advances in the Genetics of Fractures in Osteoporosis.Frontiers in endocrinology · 2019Review
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Authors and funding
61 authors.
Nerea AlonsoRheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Karol EstradaDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Omar M E AlbaghaRheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Lizbeth HerreraDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Sjur ReppeDepartment of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Ole K OlstadDepartment of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Kaare M GautvikDepartment of Clinical Biochemistry, Lovisenberg Diakonale Hospital, Oslo, Norway.
Niamh M RyanCentre for Genomic and Experimental Medicine, IGMM, University of Edinburgh, Edinburgh, UK.
Kathryn L EvansCentre for Genomic and Experimental Medicine, IGMM, University of Edinburgh, Edinburgh, UK.
Carrie M NielsonDepartment of Public Health and Preventive Medicine, Oregon Health and Science University, Portland, Oregon, USA.
Yi-Hsiang HsuDepartment of Medicine Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.
Douglas P KielBROAD Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
George MarkozannesDepartment of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece.
Evangelia E NtzaniDepartment of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece.
Evangelos EvangelouDepartment of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Xueping LiuDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Laura MasiDepartment of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Maria Luisa BrandiDepartment of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Philip RichesRheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Anna DaroszewskaRheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
José Manuel OlmosDepartment of Internal Medicine, Hospital UM Valdecilla, University of Cantabria, IDIVAL, RETICEF, Santander, Spain.
Carmen ValeroDepartment of Internal Medicine, Hospital UM Valdecilla, University of Cantabria, IDIVAL, RETICEF, Santander, Spain.
Jesús CastilloDepartment of Internal Medicine, Hospital UM Valdecilla, University of Cantabria, IDIVAL, RETICEF, Santander, Spain.
José A RianchoDepartment of Internal Medicine, Hospital UM Valdecilla, University of Cantabria, IDIVAL, RETICEF, Santander, Spain.
Lise B HustedDepartment of Endocrinology and Internal Medicine THG, Aarhus University Hospital, Aarhus, Denmark.
Bente L LangdahlDepartment of Endocrinology and Internal Medicine THG, Aarhus University Hospital, Aarhus, Denmark.
Matthew A BrownInstitute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Emma L DuncanInstitute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Stephen KaptogeCardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kay-Tee KhawDepartment of Public Health and Primary Care, School of Medicine, University of Cambridge, Cambridge, UK.
Ricardo Usategui-MartínMolecular Medicine Unit, Department of Medicine and Biomedical Research Institute of Salamanca (IBSAL), University Hospital of Salamanca, University of Salamanca - CSIC, Salamanca, Spain.
Javier Del Pino-MontesMolecular Medicine Unit, Department of Medicine and Biomedical Research Institute of Salamanca (IBSAL), University Hospital of Salamanca, University of Salamanca - CSIC, Salamanca, Spain.
Rogelio González-SarmientoMolecular Medicine Unit, Department of Medicine and Biomedical Research Institute of Salamanca (IBSAL), University Hospital of Salamanca, University of Salamanca - CSIC, Salamanca, Spain.
Joshua R LewisSchool of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
Richard L PrinceSchool of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
Patrizia D'AmelioGerontology and Bone Metabolic Diseases Unit, Department of Medical Science, University of Torino, Torino, Italy.
Natalia García-GiraltDepartment of Internal Medicine, Hospital del Mar-IMIM, RETICEF, Universitat Autonoma de Barcelona, Barcelona, Spain.
Xavier NoguésDepartment of Internal Medicine, Hospital del Mar-IMIM, RETICEF, Universitat Autonoma de Barcelona, Barcelona, Spain.
Simona Mencej-BedracDepartment of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia.
Janja MarcDepartment of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia.
Orit WolsteinOsteoporosis and Bone Biology Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
John A EismanOsteoporosis and Bone Biology Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Ling OeiDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Carolina Medina-GómezDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Katharina E SchrautCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Pau NavarroMRC Human Genetics Unit, MRC, IGMM, University of Edinburgh, Edinburgh, UK.
James F WilsonCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Gail DaviesCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
John StarrCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
Ian DearyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
Toshiko TanakaTranslational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA.
Luigi FerrucciTranslational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA.
Fernando GianfrancescoInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council of Italy, Naples, Italy.
Luigi GennariDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Gavin LucasGrup de Recerca en Genètica i Epidemiologia Cardiovascular, IMIM, Barcelona, Spain.
Roberto ElosuaGrup de Recerca en Genètica i Epidemiologia Cardiovascular, IMIM, Barcelona, Spain.
André G UitterlindenDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Fernando RivadeneiraDepartments of Internal Medicine and Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Stuart H RalstonRheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Funding
RISK FACTORS FOR VERTEBRAL FRACTURE AND BONE LOSSR01AR041398 · NIAMS · RHODE ISLAND HOSPITAL (PROVIDENCE, RI) · PI KIEL, DOUGLAS P. · 1991 to 2025
$16.1MThe Aging Genome Association Study "AGE-GAIN"ZIAAG000965 · NIA · NATIONAL INSTITUTE ON AGING · PI FERRUCCI, LUIGI · 2009 to 2025
$4.0MGENETICS OF BONE STRUCTURAL GEOMETRY: FRAMINGHAM COHORTSR01AR050066 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2003 to 2006
$2.4MThe InChianti StudyZIAAG001050 · NIA · NATIONAL INSTITUTE ON AGING · PI FERRUCCI, LUIGI · 2009 to 2025
$2.1MTargeted Sequencing of 3 Loci Associated with BMD in the Framingham OsteoporosisR01AR061162 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KIEL, DOUGLAS P. · 2011 to 2012
$972kTHE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–Biotechnology and Biological Sciences Research Council BB/F019394/1Cancer Research UK 14136Intramural NIH HHS Z99 AG999999Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/K026992/1Medical Research Council MR/M013111/1Medical Research Council MR/N003284/1Medical Research Council MR/P020941/1NHLBI NIH HHS N01 HC025195NIAMS NIH HHS R01 AR041398NIAMS NIH HHS R01 AR050066NIAMS NIH HHS R01 AR061162Wellcome Trust
Abstract
objectivesTo identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication of osteoporosis.
methodsHere we conduct a genome-wide association study in 1553 postmenopausal women with clinical vertebral fractures and 4340 controls, with a two-stage replication involving 1028 cases and 3762 controls. Potentially causal variants were identified using expression quantitative trait loci (eQTL) data from transiliac bone biopsies and bioinformatic studies.
resultsA locus tagged by rs10190845 was identified on chromosome 2q13, which was significantly associated with clinical vertebral fracture (P=1.04×10
conclusionWe have identified a novel genetic variant that is associated with clinical vertebral fractures by mechanisms that are independent of BMD. Further studies are now in progress to validate this association and evaluate the underlying mechanism.
Indexed as
AgedAged, 80 and overBone DensityChromosomes, Human, Pair 2FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMiddle AgedOsteoporotic FracturesPolymorphism, Single NucleotidePostmenopauseQuantitative Trait LociSpinal Fracturesbone mineral densitygene polymorphismosteoporosis
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