ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2016
Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2.
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Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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28citing papers in PubMed, 3 pooled it
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28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- 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
- Associations of osteoprotegerin (OPG) TNFRSF11B gene polymorphisms with risk of fractures in older adult populations: meta-analysis of genetic and genome-wide association studies.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Pooled it
- Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.American journal of human genetics · 2018Pooled it
- GREM2 inactivation increases trabecular bone mass in mice.Scientific reports · 2024Article
- Association between AXIN1 gene polymorphism (rs9921222) of WNT signaling pathway and susceptibility to osteoporosis in Egyptian patients: a case-control study.BMC musculoskeletal disorders · 2023Article
- Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases.Inflammatory bowel diseases · 2023Article
- Aberrant paracrine signalling for bone remodelling underlies the mutant histone-driven giant cell tumour of bone.Cell death and differentiation · 2022Article
- GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts.Human genetics · 2022Article
- Inbreeding depression and the probability of racing in the Thoroughbred horse.Proceedings. Biological sciences · 2022Article
- A transcriptome-wide association study to detect novel genes for volumetric bone mineral density.Bone · 2021Article
- Genetic variants modify the associations of concentrations of methylmalonic acid, vitamin B-12, vitamin B-6, and folate with bone mineral density.The American journal of clinical nutrition · 2021Article
- WNT4 Balances Development vs Disease in Gynecologic Tissues and Women's Health.Endocrinology · 2021Review
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- 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
- Pregnancy and lactation, a challenge for the skeleton.Endocrine connections · 2020Review
- Haplotype-based genome-wide association studies for carcass and growth traits in chicken.Poultry science · 2020Article
- BMD-Related Genetic Risk Scores Predict Site-Specific Fractures as Well as Trabecular and Cortical Bone Microstructure.The Journal of clinical endocrinology and metabolism · 2020Article
- A road map for understanding molecular and genetic determinants of osteoporosis.Nature reviews. Endocrinology · 2020Review
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Authors and funding
51 authors at 20 institutions in 12 countries.
Carrie M NielsonSchool of Public Health, Oregon Health & Science University, Portland, OR, USA.
Ching-Ti LiuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Albert V SmithIcelandic Heart Association, Kópavogur, Iceland.
Cheryl L Ackert-BicknellDepartment of Orthopaedics and Rehabilitation, University of Rochester, Rochester, NY, USA.
Sjur ReppeDepartment of Medical Biochemistry, Oslo University Hospital, Ullevål, Oslo, Norway.
Johanna JakobsdottirIcelandic Heart Association, Kópavogur, Iceland.
Christina WasselDepartment of Pathology and Laboratory Medicine, University of Vermont College of Medicine, Burlington, VT, USA.
Thomas C RegisterDepartment of Pathology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Ling OeiInternal Medicine, Erasmus MC, Rotterdam, The Netherlands.
Nerea AlonsoInstitute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, UK.
Edwin H OeiRadiology & Nuclear Medicine, Erasmus MC, Rotterdam, The Netherlands.
Neeta ParimiCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Elizabeth J SamelsonInstitute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, USA.
Mike A NallsNational Institute on Aging (NIA), National Institutes of Health, Bethesda, MD, USA.
Joseph ZmudaDepartment of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.
Thomas LangDepartment of Radiology, University of California, San Francisco (UCSF) School of Medicine, San Francisco, CA, USA.
Mary BouxseinCenter for Advanced Orthopedic Studies, Beth Israel Deaconess Medical Center, Harvard University Medical School, Boston, MA, USA.
Jeanne LatourelleDepartment of Neurology, Boston University, Boston, MA, USA.
Melina ClaussnitzerDepartment of Medicine, Beth Israel Deaconess Medical Center, Harvard University Medical School, Boston, MA, USA.
Kristin SiggeirsdottirImaging, Icelandic Heart Association, Kópavogur, Iceland.
Priya SrikanthSchool of Public Health, Oregon Health & Science University, Portland, OR, USA.
Erik LorentzenDepartment of Bioinformatics, Gothenburg University, Gothenburg, Sweden.
Liesbeth VandenputCentre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Carl LangefeldPublic Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Laura RaffieldCenter for Human Genomics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Greg TerryDepartment of Radiology & Radiological Sciences, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN, USA.
Amanda J CoxCenter for Diabetes Research, Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Matthew A AllisonDepartment of Family Medicine and Public Health, University of California, San Diego (UCSD), La Jolla, CA, USA.
Michael H CriquiDepartment of Family Medicine and Public Health, University of California, San Diego (UCSD), La Jolla, CA, USA.
Don BowdenCenter for Diabetes Research, Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
M Arfan IkramDepartment of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
Dan MellströmCentre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Magnus K KarlssonDepartment of Orthopaedics and Clinical Sciences, Malmö University Hospital, Lund University, Malmö, Sweden.
John CarrDepartment of Radiology & Radiological Sciences, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN, USA.
Matthew BudoffLos Angeles Biomedical Research Institute, Torrance, CA, USA.
Caroline PhillipsNational Institute on Aging (NIA), National Institutes of Health, Bethesda, MD, USA.
L Adrienne CupplesDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Wen-Chi ChouBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Richard H MyersDepartment of Neurology, Boston University, Boston, MA, USA.
Stuart H RalstonRheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, UK.
Kaare M GautvikLovisenberg Diakonale Hospital, Oslo, Norway.
Peggy M CawthonCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Steven CummingsCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
David KarasikInstitute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, USA.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
Vilmundur GudnasonIcelandic Heart Association, Kópavogur, Iceland.
Eric S OrwollDivision of Endocrinology, Oregon Health & Science University, Portland, OR, USA.
Tamara B HarrisNational Institute on Aging (NIA), National Institutes of Health, Bethesda, MD, USA.
Claes OhlssonCentre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Douglas P KielInstitute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, USA.
Yi-Hsiang HsuInstitute for Aging Research, Hebrew SeniorLife, Harvard Medical School, Boston, MA, USA.
Wake Forest University · USBoston University · USCalifornia Pacific Medical Center · USHarvard University · USUniversity of Gothenburg · SEDSM (Netherlands) · NLIcelandic Heart Association · ISNational Institute on Aging · USOregon Health & Science University · USUniversity of Iceland · ISVanderbilt University Medical Center · USBeth Israel Deaconess Medical Center · USBroad Institute · USCarl von Ossietzky Universität Oldenburg · DEDepartment of Public Health · MMErasmus MC · NLErasmus University Rotterdam · NLGalatasaray University · TRHebrew SeniorLife · USInstitute of Basic Medical Sciences of the Chinese Academy of Medical Sciences
Funding
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MOregon Clinical and Translational Research InstituteUL1TR000128 · NCATS · OREGON HEALTH & SCIENCE UNIVERSITY · PI ELLISON, DAVID H · 2012 to 2015
$28.7MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MStudy of Osteoporotic FracturesR01AG005407 · NIA · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI CUMMINGS, STEVEN RON, YAFFE, KRISTINE · 1986 to 2016
$23.2MRISK FACTORS FOR VERTEBRAL FRACTURE AND BONE LOSSR01AR041398 · NIAMS · RHODE ISLAND HOSPITAL (PROVIDENCE, RI) · PI KIEL, DOUGLAS P. · 1991 to 2025
$16.1MOsteoporotic Fractures in Men (MrOS) - San Francisco Coordinating CenterU01AR066160 · NIAMS · CALIFORNIA PACIFIC MED CTR RES INSTITUTE · PI CUMMINGS, STEVEN RON · 2013 to 2017
$9.3MStudy of Osteoporotic FracturesR01AG005394 · NIA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ENSRUD, KRISTINE · 1986 to 2015
$6.1MGWAS in MrOS and SOFRC2AR058973 · NIAMS · OREGON HEALTH & SCIENCE UNIVERSITY · PI ORWOLL, ERIC S. · 2009 to 2010
$5.7MBiomechanics of Vertebral Fracture: The Framingham QCT StudyR01AR053986 · NIAMS · BETH ISRAEL DEACONESS MEDICAL CENTER · PI BOUXSEIN, MARY L · 2007 to 2016
$5.4MOsteoporotic Fractures in Men (MrOS) - MinneapolisU01AG042145 · NIA · UNIVERSITY OF MINNESOTA · PI ENSRUD, KRISTINE · 2013 to 2019
$5.3MOsteporotic Fractures in Men (MrOS)- Admin CenterU01AG027810 · NIA · OREGON HEALTH & SCIENCE UNIVERSITY · PI ORWOLL, ERIC S. · 2006 to 2017
$5.1MNCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR000128NCATS NIH HHS UL1 TR001079NHGRI NIH HHS HHSN268200782096CNHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N02 HL064278NHLBI NIH HHS R01 HL067348NHLBI NIH HHS R01 HL072403NHLBI NIH HHS R01 HL092301NHLBI NIH HHS U01 HL056567NHLBI NIH HHS U01 HL067893NHLBI NIH HHS U01 HL067894NHLBI NIH HHS U01 HL067896NHLBI NIH HHS U01 HL067897NHLBI NIH HHS U01 HL067901NIAMS NIH HHS K01 AR053118NIAMS NIH HHS K01 AR062655NIAMS NIH HHS R01 AR035582NIAMS NIH HHS R01 AR035583NIAMS NIH HHS R01 AR035584NIAMS NIH HHS R01 AR041398NIAMS NIH HHS R01 AR048797NIAMS NIH HHS R01 AR050066NIAMS NIH HHS R01 AR053986NIAMS NIH HHS R01 AR060234NIAMS NIH HHS R01 AR061162NIAMS NIH HHS R21 AR060981NIAMS NIH HHS RC2 AR058973NIAMS NIH HHS U01 AR066160NIA NIH HHS F31 AG044879NIA NIH HHS N01 AG012100NIA NIH HHS N01 AG062101NIA NIH HHS N01 AG062103NIA NIH HHS N01 AG062106NIA NIH HHS R01 AG005394NIA NIH HHS R01 AG005407NIA NIH HHS R01 AG027574NIA NIH HHS R01 AG027576NIA NIH HHS R01 AG032098NIA NIH HHS R01 AG041658NIA NIH HHS U01 AG027810NIA NIH HHS U01 AG042124NIA NIH HHS U01 AG042139NIA NIH HHS U01 AG042140NIA NIH HHS U01 AG042143NIA NIH HHS U01 AG042145NIA NIH HHS U01 AG042168NIDDK NIH HHS P30 DK063491
Abstract
Genome-wide association studies (GWASs) have revealed numerous loci for areal bone mineral density (aBMD). We completed the first GWAS meta-analysis (n = 15,275) of lumbar spine volumetric BMD (vBMD) measured by quantitative computed tomography (QCT), allowing for examination of the trabecular bone compartment. SNPs that were significantly associated with vBMD were also examined in two GWAS meta-analyses to determine associations with morphometric vertebral fracture (n = 21,701) and clinical vertebral fracture (n = 5893). Expression quantitative trait locus (eQTL) analyses of iliac crest biopsies were performed in 84 postmenopausal women, and murine osteoblast expression of genes implicated by eQTL or by proximity to vBMD-associated SNPs was examined. We identified significant vBMD associations with five loci, including: 1p36.12, containing WNT4 and ZBTB40; 8q24, containing TNFRSF11B; and 13q14, containing AKAP11 and TNFSF11. Two loci (5p13 and 1p36.12) also contained associations with radiographic and clinical vertebral fracture, respectively. In 5p13, rs2468531 (minor allele frequency [MAF] = 3%) was associated with higher vBMD (β = 0.22, p = 1.9 × 10
Indexed as
Genetic Association StudiesGenetic Predisposition to DiseaseAnimalsBiopsyBone DensityCancellous BoneExcitatory Amino Acid Transporter 1Gene Expression RegulationHumansLinkage DisequilibriumLumbar VertebraeMiceMolecular Sequence AnnotationOrgan SizeOsteoblastsPolymorphism, Single NucleotideEPHB2 protein, humanExcitatory Amino Acid Transporter 1Receptor, EphB2SLC1A3 protein, humanANALYSIS/QUANTITATION OF BONEBONE QCT/μCTDISEASES AND DISORDERS OF/RELATED TO BONEEPIDEMIOLOGY, HUMAN ASSOCIATION STUDIESFRACTURE RISK ASSESSMENTGENERAL POPULATION STUDIESGENETIC RESEARCHOSTEOPOROSIS
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