A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

L. Oei, Y.H. Hsu, U. Styrkarsdottir, B.H. Eussen, A. Klein, M.J. Peters, B. Halldorsson, C.T. Liu, N. Alonso, S.K. Kaptoge, G. Thorleifsson, G. Hallmans, L.J. Hocking, L.B. Husted, K.A. Jameson, M. Kruk, J.R. Lewis, M.S. Patel, S. Scollen, O. SvenssonS. Trompet, N.M. van Schoor, K. Zhu, B.M. Buckley, C. Cooper, I. Ford, D. Goltzman, J. Gonzalez-Macias, B.L. Langdahl, W.D. Leslie, P.T.A.M. Lips, R.S. Lorenc, J.M. Olmos, U. Pettersson-Kymmer, D.M. Reid, J.A. Riancho, P.E. Slagboom, C. Garcia-Ibarbia, T. Ingvarsson, H. Johannsdottir, R. Luben, C. Medina-Gomez, P. Arp, K. Nandakumar, S.T. Palsson, G. Sigurdsson, J.B.J. van Meurs, Y.H. Zhou, A. Hofman, J.W. Jukema, H.A.P. Pols, R.L. Prince, L.A. Cupples, C.R. Marshall, D. Pinto, D. Sato, S.W. Scherer, J. Reeve, U. Thorsteinsdottir, D. Karasik, J.B. Richards, K. Stefansson, A. G. Uitterlinden, S.H. Ralston, J.P.A. Ioannidis, D.P. Kiel, F. Rivadeneira, K. Estrada

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    Background Osteoporosis is a systemic skeletal disease characterised by reduced bone mineral density and increased susceptibility to fracture; these traits are highly heritable. Both common and rare copy number variants (CNVs) potentially affect the function of genes and may influence disease risk. Aim To identify CNVs associated with osteoporotic bone fracture risk. Method We performed a genome-wide CNV association study in 5178 individuals from a prospective cohort in the Netherlands, including 809 osteoporotic fracture cases, and performed in silico lookups and de novo genotyping to replicate in several independent studies. Results A rare (population prevalence 0.14%, 95% CI 0.03% to 0.24%) 210 kb deletion located on chromosome 6p25.1 was associated with the risk of fracture (OR 32.58, 95% CI 3.95 to 1488.89; p=8.69×10
    Original languageEnglish
    Pages (from-to)122-131
    JournalJournal of Medical Genetics
    Issue number2
    Publication statusPublished - 2014


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