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A genome-wide copy ...
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
- Article/chapterEnglish2014
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2013-12-16
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BMJ Publishing Group,2014
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-84732
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-84732URI
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https://doi.org/10.1136/jmedgenet-2013-102064DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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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 and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Hsu, Yi-Hsiang
(author)
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Styrkarsdottir, Unnur
(author)
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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, GöranUmeå universitet,Näringsforskning,Enheten för biobanksforskning(Swepub:umu)goha0001
(author)
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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, OlleUmeå universitet,Ortopedi(Swepub:umu)olsv0001
(author)
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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, UlrikaUmeå universitet,Klinisk farmakologi,Institutionen för folkhälsa och klinisk medicin(Swepub:umu)ulpe0007
(author)
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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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Umeå universitetNäringsforskning
(creator_code:org_t)
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In:Journal of Medical Genetics: BMJ Publishing Group51:2, s. 122-1310022-25931468-6244
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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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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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Umeå University