GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
| Autor: | Cindy G. Boer, Timothy Kwok, Kristbjorg Gunnarsdottir, Tuan V. Nguyen, Jenny S.W. Lee, Seung-Hun Lee, Stefania Benonisdottir, Helgi Jonsson, Gunnar Sigurdsson, Unnur Styrkarsdottir, Kristinn Juliusson, Gudmundur L. Norddahl, Lan T. Ho-Pham, Jung Min Koh, Inger Byrjalsen, Daniel F. Gudbjartsson, Lilja Stefansdottir, Claus Christiansen, Unnur Thorsteinsdottir, Jason Leung, Thorvaldur Ingvarsson, Brynjolfur Mogensen, Eleftheria Zeggini, Olafur A. Stefansson, John Loughlin, Gisli Masson, Kari Stefansson, Arnaldur Gylfason, Lorraine Southam, Arna B Agustsdottir, Rafn Benediktsson, Fernando Rivadeneira, Gisli H. Halldorsson, Suzanne C. Ho, Hilma Holm, Katerina Trajanoska, Hakon Jonsson, Sigrun H. Lund, Joyce B. J. van Meurs, Florian Zink, Kristjan Norland, Nelson L.S. Tang, L. Stefan Lohmander, Erna V. Ivarsdottir, Gudmar Thorleifsson, Ingileif Jonsdottir, P. C. Leung, André G. Uitterlinden, John A. Eisman, Jean Woo, Patrick Sulem |
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| Přispěvatelé: | Epidemiology, Internal Medicine, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Heilbrigðisvísindasvið (HA), School of Health Sciences (UA), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), Háskóli Íslands, University of Iceland, Háskólinn á Akureyri, University of Akureyri, Heilbrigðisvísindastofnun (HA), Research Centre for Health Science (UA) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Oncology Bone density General Physics and Astronomy Genome-wide association study 02 engineering and technology Osteoarthritis Collagen Type XI Genome-wide association studies Absorptiometry Photon Risk Factors Bone Density Growth Differentiation Factor 5 lcsh:Science 10. No inequality Aged 80 and over Bone mineral Hip fracture Multidisciplinary Middle Aged 021001 nanoscience & nanotechnology Publisher Correction Slitgigt 3. Good health Female Erfðarannsóknir 0210 nano-technology Adult musculoskeletal diseases Beinin medicine.medical_specialty Science Bone and Bones General Biochemistry Genetics and Molecular Biology Article 03 medical and health sciences Gene expression analysis Internal medicine Genetics medicine Erfðafræði Humans Genetic Predisposition to Disease Allele Bone Alleles Aged Hip Fractures business.industry Case-control study General Chemistry medicine.disease Body Height MicroRNAs 030104 developmental biology Genetic Loci Case-Control Studies Orthopedic surgery lcsh:Q Beinbrot business Fractures Follow-Up Studies Genome-Wide Association Study |
| Zdroj: | Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019) Nature Communications Nature Communications, 10:Unsp 2054. Nature Publishing Group Nat. Commun. 10:2054 (2019) |
| ISSN: | 2041-1723 |
| Popis: | Publisher's version (útgefin grein). Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci that replicate in samples of European and East Asian descent (N = 13,608 – 21,277). Eight DXA area loci associate with osteoarthritis, including rs143384 in GDF5 and a missense variant in COL11A1 (rs3753841). The strongest DXA area association is with rs11614913[T] in the microRNA MIR196A2 gene that associates with lumbar spine area (P = 2.3 × 10−42, β = −0.090) and confers risk of hip fracture (P = 1.0 × 10−8, OR = 1.11). We demonstrate that the risk allele is less efficient in repressing miR-196a-5p target genes. We also show that the DXA area measure contributes to the risk of hip fracture independent of bone density. We thank all the study subjects for their valuable participation, the staff from all studies and the participating physicians. A part of this research has been conducted using the UK Biobank Resource under Application Number 23359. arcOGEN (http://www.arcogen.org.uk/) was funded by a special purpose grant from Arthritis Research UK (grant 18030). |
| Databáze: | OpenAIRE |
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