Search: WFRF:(van Schoor Natasja M.)
> (2010-2014)
> Thorleifsson Gudmar >
A genome-wide copy ...
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
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Oei, Ling (author)
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Hsu, Yi-Hsiang (author)
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Styrkarsdottir, Unnur (author)
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show more...
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Eussen, Bert H (author)
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de Klein, Annelies (author)
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Peters, Marjolein J (author)
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Halldorsson, Bjarni (author)
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Liu, Ching-Ti (author)
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Alonso, Nerea (author)
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Kaptoge, Stephen K (author)
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Thorleifsson, Gudmar (author)
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- Hallmans, Göran (author)
- Umeå universitet,Näringsforskning,Enheten för biobanksforskning
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Hocking, Lynne J (author)
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Husted, Lise Bjerre (author)
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Jameson, Karen A (author)
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Kruk, Marcin (author)
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Lewis, Joshua R (author)
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Patel, Millan S (author)
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Scollen, Serena (author)
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- Svensson, Olle (author)
- Umeå universitet,Ortopedi
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Trompet, Stella (author)
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van Schoor, Natasja M (author)
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Zhu, Kun (author)
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Buckley, Brendan M (author)
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Cooper, Cyrus (author)
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Ford, Ian (author)
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Goltzman, David (author)
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González-Macías, Jesús (author)
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Langdahl, Bente Lomholt (author)
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Leslie, William D (author)
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Lips, Paul (author)
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Lorenc, Roman S (author)
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Olmos, José M (author)
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- Pettersson-Kymmer, Ulrika (author)
- Umeå universitet,Klinisk farmakologi,Institutionen för folkhälsa och klinisk medicin
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Reid, David M (author)
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Riancho, José A (author)
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Slagboom, P Eline (author)
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Garcia-Ibarbia, Carmen (author)
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Ingvarsson, Thorvaldur (author)
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Johannsdottir, Hrefna (author)
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Luben, Robert (author)
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Medina-Gómez, Carolina (author)
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Arp, Pascal (author)
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Nandakumar, Kannabiran (author)
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Palsson, Stefan Th (author)
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Sigurdsson, Gunnar (author)
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van Meurs, Joyce B J (author)
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Zhou, Yanhua (author)
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Hofman, Albert (author)
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Jukema, J Wouter (author)
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Pols, Huibert A P (author)
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Prince, Richard L (author)
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Cupples, L Adrienne (author)
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Marshall, Christian R (author)
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Pinto, Dalila (author)
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Sato, Daisuke (author)
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Scherer, Stephen W (author)
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Reeve, Jonathan (author)
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Thorsteinsdottir, Unnur (author)
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Karasik, David (author)
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Richards, J Brent (author)
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Stefansson, Kari (author)
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Uitterlinden, André G (author)
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Ralston, Stuart H (author)
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Ioannidis, John P A (author)
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Kiel, Douglas P (author)
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Rivadeneira, Fernando (author)
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Estrada, Karol (author)
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(creator_code:org_t)
- 2013-12-16
- 2014
- English.
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In: Journal of Medical Genetics. - : BMJ Publishing Group. - 0022-2593 .- 1468-6244. ; 51:2, s. 122-131
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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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(-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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Ortopedi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Orthopaedics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- Osteoporosis
- Copy-Number
- Calcium and Bone
- Genetic Epidemiology
- Genome-Wide
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Oei, Ling
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Hsu, Yi-Hsiang
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Styrkarsdottir, ...
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Eussen, Bert H
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de Klein, Anneli ...
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Peters, Marjolei ...
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show more...
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Halldorsson, Bja ...
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Liu, Ching-Ti
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Alonso, Nerea
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Kaptoge, Stephen ...
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Thorleifsson, Gu ...
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Hallmans, Göran
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Hocking, Lynne J
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Husted, Lise Bje ...
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Jameson, Karen A
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Kruk, Marcin
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Lewis, Joshua R
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Patel, Millan S
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Scollen, Serena
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Svensson, Olle
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Trompet, Stella
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van Schoor, Nata ...
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Zhu, Kun
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Buckley, Brendan ...
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Cooper, Cyrus
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Ford, Ian
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Goltzman, David
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González-Macías, ...
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Langdahl, Bente ...
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Leslie, William ...
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Lips, Paul
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Lorenc, Roman S
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Olmos, José M
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Pettersson-Kymme ...
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Reid, David M
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Riancho, José A
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Slagboom, P Elin ...
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Garcia-Ibarbia, ...
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Ingvarsson, Thor ...
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Johannsdottir, H ...
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Luben, Robert
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Medina-Gómez, Ca ...
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Arp, Pascal
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Nandakumar, Kann ...
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Palsson, Stefan ...
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Sigurdsson, Gunn ...
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van Meurs, Joyce ...
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Zhou, Yanhua
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Hofman, Albert
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Jukema, J Wouter
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Pols, Huibert A ...
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Prince, Richard ...
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Cupples, L Adrie ...
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Marshall, Christ ...
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Pinto, Dalila
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Sato, Daisuke
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Scherer, Stephen ...
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Reeve, Jonathan
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Thorsteinsdottir ...
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Karasik, David
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Richards, J Bren ...
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Stefansson, Kari
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Uitterlinden, An ...
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Ralston, Stuart ...
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Ioannidis, John ...
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Kiel, Douglas P
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Rivadeneira, Fer ...
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Estrada, Karol
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Orthopaedics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
- Articles in the publication
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Journal of Medic ...
- By the university
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Umeå University