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GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures


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 x 10(-42), beta = -0.090) and confers risk of hip fracture (P = 1.0 x 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.

Type Journal
ISBN 2041-1723 (Electronic) 2041-1723 (Linking)
Authors Styrkarsdottir, U.; Stefansson, O. A.; Gunnarsdottir, K.; Thorleifsson, G.; Lund, S. H.; Stefansdottir, L.; Juliusson, K.; Agustsdottir, A. B.; Zink, F.; Halldorsson, G. H.; Ivarsdottir, E. V.; Benonisdottir, S.; Jonsson, H.; Gylfason, A.; Norland, K.; Trajanoska, K.; Boer, C. G.; Southam, L.; Leung, J. C. S.; Tang, N. L. S.; Kwok, T. C. Y.; Lee, J. S. W.; Ho, S. C.; Byrjalsen, I.; Center, J. R.; Lee, S. H.; Koh, J. M.; Lohmander, L. S.; Ho-Pham, L. T.; Nguyen, T. V.; Eisman, J. A.; Woo, J.; Leung, P. C.; Loughlin, J.; Zeggini, E.; Christiansen, C.; Rivadeneira, F.; van Meurs, J.; Uitterlinden, A. G.; Mogensen, B.; Jonsson, H.; Ingvarsson, T.; Sigurdsson, G.; Benediktsson, R.; Sulem, P.; Jonsdottir, I.; Masson, G.; Holm, H.; Norddahl, G. L.; Thorsteinsdottir, U.; Gudbjartsson, D. F.; Stefansson, K.
Responsible Garvan Author Prof John Eisman
Publisher Name Nature Communications
Published Date 2019-05-03
Published Volume 10
Published Issue 1
Published Pages 2054
Status Published in-print
DOI 10.1038/s41467-019-09860-0
URL link to publisher's version