Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies

Yurii S. Aulchenko | Nicole Soranzo | Panagiotis Deloukas | Kari Stefansson | Fernando Rivadeneira | Gudmar Thorleifsson | John P.A. Ioannidis | L. Adrienne Cupples | Karol Estrada | M. Carola Zillikens | Albert Hofman | Cornelia M. van Duijn | Serkalem Demissie | André G. Uitterlinden | Tomi Pastinen | Douglas P. Kiel | Scott G. Wilson | Yi-Hsiang Hsu | David Karasik | Yanhua Zhou | Gunnar Sigurdsson | Unnur Thorsteinsdottir | Najaf Amin | J. Brent Richards | Bjarni V. Halldórsson | D. Kiel | A. Hofman | A. Uitterlinden | T. Spector | J. V. van Meurs | B. Halldórsson | U. Thorsteinsdóttir | A. Kong | K. Stefánsson | J. Ioannidis | F. Rivadeneira | G. Thorleifsson | P. Deloukas | C. V. van Duijn | G. Sigurdsson | T. Pastinen | J. Richards | L. Cupples | N. Soranzo | U. Styrkarsdottir | Gunnar Sigurdsson | K. Estrada | B. Oostra | N. Amin | Y. Aulchenko | E. Grundberg | S. Ralston | M. Zillikens | Y. Hsu | F. Williams | H. Pols | F. Kavvoura | Scott G Wilson | S. Demissie | D. Karasik | Yanhua Zhou | Augustine Kong | Stuart H. Ralston | Elin Grundberg | Ben Oostra | Joyce B. van Meurs | Timothy Spector | Unnur Styrkársdottir | Fotini K. Kavvoura | Huibert A.P. Pols | Frances MK Williams | J. B. Richards | U. Styrkársdóttir | S. Wilson | Yanhua Zhou | A. Uitterlinden | A. Hofman | B. Oostra | C. V. van Duijn | Douglas P. Kiel | A. Hofman | J. B. Richards | S. Wilson | Stuart H Ralston | Yi-Hsiang Hsu | Kari Stefansson | J. B. Richards | Scott G Wilson | J. P. Ioannidis | Timothy D. Spector | A. Uitterlinden | Cornelia M. van Duijn | L. Cupples | Scott G. Wilson | H. Pols | Frances M. K. Williams | Kári Stefánsson | John P. A. Ioannidis | L. A. Cupples | Fernando Rivadeneira | Panagiotis Deloukas | Cornelia M. van Duijn | Panagiotis Deloukas | F. M. Williams | Scott G Wilson | Panagiotis Deloukas | John P. A. Ioannidis | J. Ioannidis | Najaf Amin | Panagiotis Deloukas | Gunnar Sigurdsson | Frances MK Williams | Scott G. Wilson | Panagiotis Deloukas | Gunnar Sigurdsson | Yi-Hsiang Hsu | Panagiotis Deloukas | Frances MK Williams | K. Stefansson

[1]  H. Choi,et al.  The forkhead transcription factor Foxc2 stimulates osteoblast differentiation. , 2009, Biochemical and biophysical research communications.

[2]  Tomas W. Fitzgerald,et al.  Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations , 2009, American journal of human genetics.

[3]  Taesung Park,et al.  A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits , 2009, Nature Genetics.

[4]  John P. A. Ioannidis,et al.  Validating, augmenting and refining genome-wide association signals , 2009, Nature Reviews Genetics.

[5]  Monique M. B. Breteler,et al.  The Rotterdam Study: 2016 objectives and design update , 2015, European Journal of Epidemiology.

[6]  Bjarni V. Halldórsson,et al.  New sequence variants associated with bone mineral density , 2009, Nature Genetics.

[7]  Christian Gieger,et al.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation , 2009, Nature Genetics.

[8]  J. Ioannidis,et al.  Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement , 2009, European Journal of Epidemiology.

[9]  Manuel A. R. Ferreira,et al.  Practical aspects of imputation-driven meta-analysis of genome-wide association studies. , 2008, Human molecular genetics.

[10]  Kari Stefansson,et al.  Multiple genetic loci for bone mineral density and fractures. , 2008, The New England journal of medicine.

[11]  J. Rossant,et al.  Bone sialoprotein plays a functional role in bone formation and osteoclastogenesis , 2008, The Journal of experimental medicine.

[12]  A Hofman,et al.  Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study , 2008, The Lancet.

[13]  M. Daly,et al.  Estimation of the multiple testing burden for genomewide association studies of nearly all common variants , 2008, Genetic epidemiology.

[14]  Bjarni V. Halldórsson,et al.  Many sequence variants affecting diversity of adult human height , 2008, Nature Genetics.

[15]  T. Pastinen,et al.  Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells. , 2008, Physiological genomics.

[16]  A. Uitterlinden,et al.  Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study. , 2008, Bone.

[17]  Peter M Visscher,et al.  Sizing up human height variation , 2008, Nature Genetics.

[18]  David M. Evans,et al.  Genome-wide association analysis identifies 20 loci that influence adult height , 2008, Nature Genetics.

[19]  M. McCarthy,et al.  Genome-wide association studies for complex traits: consensus, uncertainty and challenges , 2008, Nature Reviews Genetics.

[20]  D. Kiel,et al.  Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. , 2008, JAMA.

[21]  Zhaohui S. Qin,et al.  A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.

[22]  E. Olson,et al.  Histone deacetylase degradation and MEF2 activation promote the formation of slow-twitch myofibers. , 2007, The Journal of clinical investigation.

[23]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[24]  P. Donnelly,et al.  A new multipoint method for genome-wide association studies by imputation of genotypes , 2007, Nature Genetics.

[25]  Qiong Yang,et al.  The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: design, recruitment, and initial examination. , 2007, American journal of epidemiology.

[26]  Yurii S. Aulchenko,et al.  BIOINFORMATICS APPLICATIONS NOTE doi:10.1093/bioinformatics/btm108 Genetics and population analysis GenABEL: an R library for genome-wide association analysis , 2022 .

[27]  Linda Yang,et al.  Cdc42 GTPase-activating protein deficiency promotes genomic instability and premature aging-like phenotypes , 2007, Proceedings of the National Academy of Sciences.

[28]  Daniel L. Koller,et al.  Meta‐Analysis of Genome‐Wide Scans Provides Evidence for Sex‐ and Site‐Specific Regulation of Bone Mass , 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[29]  Brendan H. Lee,et al.  Dominance of SOX9 function over RUNX2 during skeletogenesis , 2006, Proceedings of the National Academy of Sciences.

[30]  Scott Saunders,et al.  Bone Density Ligand, Sclerostin, Directly Interacts With LRP5 but Not LRP5G171V to Modulate Wnt Activity , 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[31]  E. Lukhtanov,et al.  A novel endonuclease IV post-PCR genotyping system , 2006, Nucleic acids research.

[32]  Fernando Rivadeneira,et al.  Estrogen Receptor β (ESR2) Polymorphisms in Interaction With Estrogen Receptor α (ESR1) and Insulin‐Like Growth Factor I (IGF1) Variants Influence the Risk of Fracture in Postmenopausal Women , 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[33]  A. Uitterlinden,et al.  The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis , 2006, Annals of Internal Medicine.

[34]  G. Eichele,et al.  The evolving doublecortin (DCX) superfamily , 2006, BMC Genomics.

[35]  D. Reich,et al.  Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.

[36]  A. Alford,et al.  Matricellular proteins: Extracellular modulators of bone development, remodeling, and regeneration. , 2006, Bone.

[37]  K. Basler,et al.  Wntless, a Conserved Membrane Protein Dedicated to the Secretion of Wnt Proteins from Signaling Cells , 2006, Cell.

[38]  A. Uitterlinden,et al.  Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study , 2006, PLoS medicine.

[39]  J. Westendorf,et al.  Histone Deacetylase Inhibitors Promote Osteoblast Maturation , 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[40]  Majd Zayzafoon,et al.  RhoA and Cytoskeletal Disruption Mediate Reduced Osteoblastogenesis and Enhanced Adipogenesis of Human Mesenchymal Stem Cells in Modeled Microgravity , 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[41]  J. Ioannidis Why Most Published Research Findings Are False , 2005, PLoS medicine.

[42]  R. Derynck,et al.  Repression of Runx2 function by TGF‐β through recruitment of class II histone deacetylases by Smad3 , 2005, The EMBO journal.

[43]  Hans Clevers,et al.  Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation. , 2005, Developmental cell.

[44]  T. Spector,et al.  The assessment of vertebral deformity: A method for use in population studies and clinical trials , 1993, Osteoporosis International.

[45]  T. Spector,et al.  Predicting the Risk of Fracture at Any Site in the Skeleton: Are All Bone Mineral Density Measurement Sites Equally Effective? , 2005, Calcified Tissue International.

[46]  S. Théoleyre,et al.  The molecular triad OPG/RANK/RANKL: involvement in the orchestration of pathophysiological bone remodeling. , 2004, Cytokine & growth factor reviews.

[47]  A. Uitterlinden,et al.  Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. , 2004, JAMA.

[48]  L. Cardon,et al.  Linkage disequilibrium in young genetically isolated Dutch population , 2004, European Journal of Human Genetics.

[49]  A. Hofman,et al.  Risk of Creutzfeldt-Jakob disease in relation to animal spongiform encephalopathies: A collaborative study in Europe , 1991, European Journal of Epidemiology.

[50]  A. Hofman,et al.  Determinants of disease and disability in the elderly: The Rotterdam elderly study , 1991, European Journal of Epidemiology.

[51]  A. Hofman,et al.  Fracture incidence and association with bone mineral density in elderly men and women: the Rotterdam Study. , 2004, Bone.

[52]  S. Ortolani,et al.  Genetics of osteoporosis , 1994, Calcified Tissue International.

[53]  S. Sugano,et al.  Large-scale identification and characterization of human genes that activate NF-κB and MAPK signaling pathways , 2003, Oncogene.

[54]  John P A Ioannidis,et al.  Genetic associations: false or true? , 2003, Trends in molecular medicine.

[55]  C. Deng,et al.  Disruption of Transforming Growth Factor-β Signaling in ELF β-Spectrin-Deficient Mice , 2003, Science.

[56]  J. Stock,et al.  Targeted Disruption of the Osteoblast/Osteocyte Factor 45 Gene (OF45) Results in Increased Bone Formation and Bone Mass* , 2003, The Journal of Biological Chemistry.

[57]  C. Deng,et al.  Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice. , 2003, Science.

[58]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[59]  M. Noda,et al.  Bone Morphogenetic Protein Regulation of Forkhead/Winged Helix Transcription Factor Foxc2 (Mfh1) in a Murine Mesodermal Cell Line C1 and in Skeletal Precursor Cells , 2001, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[60]  V. Lefebvre,et al.  The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. , 2001, Developmental cell.

[61]  E. Olson,et al.  Signal-dependent nuclear export of a histone deacetylase regulates muscle differentiation , 2000, Nature.

[62]  K. Roeder,et al.  Genomic Control for Association Studies , 1999, Biometrics.

[63]  M Noda,et al.  Osteopontin-deficient mice are resistant to ovariectomy-induced bone resorption. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[64]  B. Hogan,et al.  The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. , 1997, Genes & development.

[65]  C. Cooper,et al.  Guidelines for diagnosis and management of osteoporosis. The European Foundation for Osteoporosis and Bone Disease. , 1997, Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.

[66]  T. Spector,et al.  The heritability of bone mineral density, ultrasound of the calcaneus and hip axis length: A study of postmenopausal twins , 1996, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[67]  J. Naylor,et al.  Mendelian inheritance in man: A catalog of human genes and genetic disorders , 1996 .

[68]  V. McKusick Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders , 1997 .

[69]  P. Allhoff,et al.  The Framingham Offspring Study , 1991 .

[70]  W. Kannel,et al.  An investigation of coronary heart disease in families. The Framingham offspring study. , 1979, American journal of epidemiology.

[71]  V. McKusick Mendelian inheritance in man , 1971 .

[72]  W. Kannel,et al.  AN APPROACH TO LONGITUDINAL STUDIES IN A COMMUNITY: THE FRAMINGHAM STUDY , 1963, Annals of the New York Academy of Sciences.