Sökning: WFRF:(van Schoor Natasja M) > (2010-2014) > A genome-wide copy ...
Fältnamn | Indikatorer | Metadata |
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000 | 06324naa a2201201 4500 | |
001 | oai:DiVA.org:umu-84732 | |
003 | SwePub | |
008 | 140117s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-847322 URI |
024 | 7 | a https://doi.org/10.1136/jmedgenet-2013-1020642 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Oei, Ling4 aut |
245 | 1 0 | a A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus |
264 | c 2013-12-16 | |
264 | 1 | b BMJ Publishing Group,c 2014 |
338 | a print2 rdacarrier | |
520 | a 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.CONCLUSIONS: These results suggest that deletions in the 6p25.1 locus may predispose to higher risk of fracture in a subset of populations of European origin; larger and geographically restricted studies will be needed to confirm this regional association. This is a first step towards the evaluation of the role of rare CNVs in osteoporosis. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Ortopedi0 (SwePub)302112 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Orthopaedics0 (SwePub)302112 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
653 | a Osteoporosis | |
653 | a Copy-Number | |
653 | a Calcium and Bone | |
653 | a Genetic Epidemiology | |
653 | a Genome-Wide | |
700 | 1 | a Hsu, Yi-Hsiang4 aut |
700 | 1 | a Styrkarsdottir, Unnur4 aut |
700 | 1 | a Eussen, Bert H4 aut |
700 | 1 | a de Klein, Annelies4 aut |
700 | 1 | a Peters, Marjolein J4 aut |
700 | 1 | a Halldorsson, Bjarni4 aut |
700 | 1 | a Liu, Ching-Ti4 aut |
700 | 1 | a Alonso, Nerea4 aut |
700 | 1 | a Kaptoge, Stephen K4 aut |
700 | 1 | a Thorleifsson, Gudmar4 aut |
700 | 1 | a Hallmans, Göranu Umeå universitet,Näringsforskning,Enheten för biobanksforskning4 aut0 (Swepub:umu)goha0001 |
700 | 1 | a Hocking, Lynne J4 aut |
700 | 1 | a Husted, Lise Bjerre4 aut |
700 | 1 | a Jameson, Karen A4 aut |
700 | 1 | a Kruk, Marcin4 aut |
700 | 1 | a Lewis, Joshua R4 aut |
700 | 1 | a Patel, Millan S4 aut |
700 | 1 | a Scollen, Serena4 aut |
700 | 1 | a Svensson, Olleu Umeå universitet,Ortopedi4 aut0 (Swepub:umu)olsv0001 |
700 | 1 | a Trompet, Stella4 aut |
700 | 1 | a van Schoor, Natasja M4 aut |
700 | 1 | a Zhu, Kun4 aut |
700 | 1 | a Buckley, Brendan M4 aut |
700 | 1 | a Cooper, Cyrus4 aut |
700 | 1 | a Ford, Ian4 aut |
700 | 1 | a Goltzman, David4 aut |
700 | 1 | a González-Macías, Jesús4 aut |
700 | 1 | a Langdahl, Bente Lomholt4 aut |
700 | 1 | a Leslie, William D4 aut |
700 | 1 | a Lips, Paul4 aut |
700 | 1 | a Lorenc, Roman S4 aut |
700 | 1 | a Olmos, José M4 aut |
700 | 1 | a Pettersson-Kymmer, Ulrikau Umeå universitet,Klinisk farmakologi,Institutionen för folkhälsa och klinisk medicin4 aut0 (Swepub:umu)ulpe0007 |
700 | 1 | a Reid, David M4 aut |
700 | 1 | a Riancho, José A4 aut |
700 | 1 | a Slagboom, P Eline4 aut |
700 | 1 | a Garcia-Ibarbia, Carmen4 aut |
700 | 1 | a Ingvarsson, Thorvaldur4 aut |
700 | 1 | a Johannsdottir, Hrefna4 aut |
700 | 1 | a Luben, Robert4 aut |
700 | 1 | a Medina-Gómez, Carolina4 aut |
700 | 1 | a Arp, Pascal4 aut |
700 | 1 | a Nandakumar, Kannabiran4 aut |
700 | 1 | a Palsson, Stefan Th4 aut |
700 | 1 | a Sigurdsson, Gunnar4 aut |
700 | 1 | a van Meurs, Joyce B J4 aut |
700 | 1 | a Zhou, Yanhua4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Jukema, J Wouter4 aut |
700 | 1 | a Pols, Huibert A P4 aut |
700 | 1 | a Prince, Richard L4 aut |
700 | 1 | a Cupples, L Adrienne4 aut |
700 | 1 | a Marshall, Christian R4 aut |
700 | 1 | a Pinto, Dalila4 aut |
700 | 1 | a Sato, Daisuke4 aut |
700 | 1 | a Scherer, Stephen W4 aut |
700 | 1 | a Reeve, Jonathan4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Karasik, David4 aut |
700 | 1 | a Richards, J Brent4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Uitterlinden, André G4 aut |
700 | 1 | a Ralston, Stuart H4 aut |
700 | 1 | a Ioannidis, John P A4 aut |
700 | 1 | a Kiel, Douglas P4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Estrada, Karol4 aut |
710 | 2 | a Umeå universitetb Näringsforskning4 org |
773 | 0 | t Journal of Medical Geneticsd : BMJ Publishing Groupg 51:2, s. 122-131q 51:2<122-131x 0022-2593x 1468-6244 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-84732 |
856 | 4 8 | u https://doi.org/10.1136/jmedgenet-2013-102064 |
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