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Start Over Author "Eussen, Bert" Journal journal of medical genetics
4 results on '"Eussen, Bert"'

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

Author

Oei, Ling, Hsu, Yi-Hsiang, Styrkarsdottir, Unnur, Eussen, Bert H, de Klein, Annelies, Peters, Marjolein J, Halldorsson, Bjarni, Liu, Ching-Ti, Alonso, Nerea, Kaptoge, Stephen K, Thorleifsson, Gudmar, Hallmans, Göran, Hocking, Lynne J, Husted, Lise Bjerre, Jameson, Karen A, Kruk, Marcin, Lewis, Joshua R, Patel, Millan S, Scollen, Serena, Svensson, Olle, Trompet, Stella, van Schoor, Natasja M, Zhu, Kun, Buckley, Brendan M, Cooper, Cyrus, Ford, Ian, Goltzman, David, González-Macías, Jesús, Langdahl, Bente Lomholt, Leslie, William D, Lips, Paul, Lorenc, Roman S, Olmos, José M, Pettersson-Kymmer, Ulrika, Reid, David M, Riancho, José A, Slagboom, P Eline, Garcia-Ibarbia, Carmen, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Luben, Robert, Medina-Gómez, Carolina, Arp, Pascal, Nandakumar, Kannabiran, Palsson, Stefan Th, Sigurdsson, Gunnar, van Meurs, Joyce B J, Zhou, Yanhua, Hofman, Albert, Jukema, J Wouter, Pols, Huibert A P, Prince, Richard L, Cupples, L Adrienne, Marshall, Christian R, Pinto, Dalila, Sato, Daisuke, Scherer, Stephen W, Reeve, Jonathan, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Stefansson, Kari, Uitterlinden, André G, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P, Rivadeneira, Fernando, and Estrada, Karol

Published
2014
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3. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Author

Oei, Ling, primary, Hsu, Yi-Hsiang, additional, Styrkarsdottir, Unnur, additional, Eussen, Bert H, additional, de Klein, Annelies, additional, Peters, Marjolein J, additional, Halldorsson, Bjarni, additional, Liu, Ching-Ti, additional, Alonso, Nerea, additional, Kaptoge, Stephen K, additional, Thorleifsson, Gudmar, additional, Hallmans, Göran, additional, Hocking, Lynne J, additional, Husted, Lise Bjerre, additional, Jameson, Karen A, additional, Kruk, Marcin, additional, Lewis, Joshua R, additional, Patel, Millan S, additional, Scollen, Serena, additional, Svensson, Olle, additional, Trompet, Stella, additional, van Schoor, Natasja M, additional, Zhu, Kun, additional, Buckley, Brendan M, additional, Cooper, Cyrus, additional, Ford, Ian, additional, Goltzman, David, additional, González-Macías, Jesús, additional, Langdahl, Bente Lomholt, additional, Leslie, William D, additional, Lips, Paul, additional, Lorenc, Roman S, additional, Olmos, José M, additional, Pettersson-Kymmer, Ulrika, additional, Reid, David M, additional, Riancho, José A, additional, Slagboom, P Eline, additional, Garcia-Ibarbia, Carmen, additional, Ingvarsson, Thorvaldur, additional, Johannsdottir, Hrefna, additional, Luben, Robert, additional, Medina-Gómez, Carolina, additional, Arp, Pascal, additional, Nandakumar, Kannabiran, additional, Palsson, Stefan Th, additional, Sigurdsson, Gunnar, additional, van Meurs, Joyce B J, additional, Zhou, Yanhua, additional, Hofman, Albert, additional, Jukema, J Wouter, additional, Pols, Huibert A P, additional, Prince, Richard L, additional, Cupples, L Adrienne, additional, Marshall, Christian R, additional, Pinto, Dalila, additional, Sato, Daisuke, additional, Scherer, Stephen W, additional, Reeve, Jonathan, additional, Thorsteinsdottir, Unnur, additional, Karasik, David, additional, Richards, J Brent, additional, Stefansson, Kari, additional, Uitterlinden, André G, additional, Ralston, Stuart H, additional, Ioannidis, John P A, additional, Kiel, Douglas P, additional, Rivadeneira, Fernando, additional, and Estrada, Karol, additional

Published
2013
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4. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

Author

Ling Oei, Yi-Hsiang Hsu, Styrkarsdottir, Unnur, Eussen, Bert H., de Klein, Annelies, Peters, Marjolein J., Halldorsson, Bjarni, Ching-Ti Liu, Alonso, Nerea, Kaptoge, Stephen K., Thorleifsson, Gudmar, Hallmans, Göran, Hocking, Lynne J., Husted, Lise Bjerre, Jameson, Karen A., Kruk, Marcin, Lewis, Joshua R., Patel, Millan S., Scollen, Serena, and Svensson, Olle

Subjects
BONE injuries, GENETICS, FRACTURE fixation, META-analysis, OSTEOPOROSIS diagnosis
Abstract

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=8.69×10-5). We performed an in silico meta-analysis in four studies with CNV microarray data and the association with fracture risk was replicated (OR 3.11, 95% CI 1.01 to 8.22; p=0.02). The prevalence of this deletion showed geographic diversity, being absent in additional samples from Australia, Canada, Poland, Iceland, Denmark, and Sweden, but present in the Netherlands (0.34%), Spain (0.33%), USA (0.23%), England (0.15%), Scotland (0.10%), and Ireland (0.06%), with insufficient evidence for association with fracture risk. [ABSTRACT FROM AUTHOR]

Published
2014
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