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

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Oei, Ling; Hsu, Yi-Hsiang; Styrkarsdottir, ...; Eussen, Bert H; de Klein, Anneli ...; Peters, Marjolei ...; visa fler...; Halldorsson, Bja ...; Liu, Ching-Ti; Alonso, Nerea; Kaptoge, Stephen ...; Thorleifsson, Gu ...; Hallmans, Göran; Hocking, Lynne J; Husted, Lise Bje ...; Jameson, Karen A; Kruk, Marcin; Lewis, Joshua R; Patel, Millan S; Scollen, Serena; Svensson, Olle; Trompet, Stella; van Schoor, Nata ...; Zhu, Kun; Buckley, Brendan ...; Cooper, Cyrus; Ford, Ian; Goltzman, David; González-Macías, ...; Langdahl, Bente ...; Leslie, William ...; Lips, Paul; Lorenc, Roman S; Olmos, José M; Pettersson-Kymme ...; Reid, David M; Riancho, José A; Slagboom, P Elin ...; Garcia-Ibarbia, ...; Ingvarsson, Thor ...; Johannsdottir, H ...; Luben, Robert; Medina-Gómez, Ca ...; Arp, Pascal; Nandakumar, Kann ...; Palsson, Stefan ...; Sigurdsson, Gunn ...; van Meurs, Joyce ...; Zhou, Yanhua; Hofman, Albert; Jukema, J Wouter; Pols, Huibert A ...; Prince, Richard ...; Cupples, L Adrie ...; Marshall, Christ ...; Pinto, Dalila; Sato, Daisuke; Scherer, Stephen ...; Reeve, Jonathan; Thorsteinsdottir ...; Karasik, David; Richards, J Bren ...; Stefansson, Kari; Uitterlinden, An ...; Ralston, Stuart ...; Ioannidis, John ...; Kiel, Douglas P; Rivadeneira, Fer ...; Estrada, Karol; visa färre...

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