| Title: | GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures |
| Journal: | Nature Communications |
| Published: | 3 May 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/31053729/ |
| DOI: | https://doi.org/10.1038/s41467-019-09860-0 |
| URL: | https://www.nature.com/articles/s41467-019-09860-0.pdf |
Publication 8835
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Abstract
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.</p>
52 Authors
- Unnur Styrkarsdottir
- Olafur A. Stefansson
- Kristbjorg Gunnarsdottir
- Gudmar Thorleifsson
- Sigrun H. Lund
- Lilja Stefansdottir
- Kristinn Juliusson
- Arna B. Agustsdottir
- Florian Zink
- Gisli H. Halldorsson
- Erna V. Ivarsdottir
- Stefania Benonisdottir
- Hakon Jonsson
- Arnaldur Gylfason
- Kristjan Norland
- Katerina Trajanoska
- Cindy G. Boer
- Lorraine Southam
- Jason C. S. Leung
- Nelson L. S. Tang
- Timothy C. Y. Kwok
- Jenny S. W. Lee
- Suzanne C. Ho
- Inger Byrjalsen
- Jacqueline R. Center
- Seung Hun Lee
- Jung-Min Koh
- L. Stefan Lohmander
- Lan T. Ho-Pham
- Tuan V. Nguyen
- John A. Eisman
- Jean Woo
- Ping-C. Leung
- John Loughlin
- Eleftheria Zeggini
- Claus Christiansen
- Fernando Rivadeneira
- Joyce van Meurs
- Andre G. Uitterlinden
- Brynjolfur Mogensen
- Helgi Jonsson
- Thorvaldur Ingvarsson
- Gunnar Sigurdsson
- Rafn Benediktsson
- Patrick Sulem
- Ingileif Jonsdottir
- Gisli Masson
- Hilma Holm
- Gudmundur L. Norddahl
- Unnur Thorsteinsdottir
- Daniel F. Gudbjartsson
- Kari Stefansson
1 Application
| Application ID | Title |
|---|---|
| 23359 | Osteoarthritis |
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