A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

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Fältnamn	Indikatorer	Metadata
000		06395naa a2201105 4500
001		oai:lup.lub.lu.se:23d39cc8-7e16-4aca-8c12-1d5ed3c127bf
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/49828022 URI
024	7	a https://doi.org/10.1136/annrheumdis-2012-2031142 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Evangelou, Evangelos4 aut
245	1 0	a A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip
264		c 2013-08-29
264	1	b BMJ,c 2014
338		a electronic2 rdacarrier
520		a Objectives Osteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects. Methods We performed a two-stage meta-analysis on more than 78 000 participants. In stage 1, we synthesised data from eight GWAS whereas data from 10 centres were used for 'in silico' or 'de novo' replication. Besides the main analysis, a stratified by sex analysis was performed to detect possible sex-specific signals. Meta-analysis was performed using inverse-variance fixed effects models. A random effects approach was also used. Results We accumulated 11 277 cases of radiographic and symptomatic hip OA. We prioritised eight single nucleotide polymorphism (SNPs) for follow-up in the discovery stage (4349 OA cases); five from the combined analysis, two male specific and one female specific. One locus, at 20q13, represented by rs6094710 (minor allele frequency (MAF) 4%) near the NCOA3 (nuclear receptor coactivator 3) gene, reached genome-wide significance level with p=7.9x10(-9) and OR=1.28 (95% CI 1.18 to 1.39) in the combined analysis of discovery (p= 5.6x10(-8)) and follow-up studies (p=7.3x10(-4)). We showed that this gene is expressed in articular cartilage and its expression was significantly reduced in OA-affected cartilage. Moreover, two loci remained suggestive associated; rs5009270 at 7q31 (MAF 30%, p=9.9x10(-7), OR=1.10) and rs3757837 at 7p13 (MAF 6%, p=2.2x10(-6), OR=1.27 in male specific analysis). Conclusions Novel genetic loci for hip OA were found in this meta-analysis of GWAS.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng
700	1	a Kerkhof, Hanneke J.4 aut
700	1	a Styrkarsdottir, Unnur4 aut
700	1	a Ntzani, Evangelia E.4 aut
700	1	a Bos, Steffan D.4 aut
700	1	a Esko, Tonu4 aut
700	1	a Evans, Daniel S.4 aut
700	1	a Metrustry, Sarah4 aut
700	1	a Panoutsopoulou, Kalliope4 aut
700	1	a Ramos, Yolande F. M.4 aut
700	1	a Thorleifsson, Gudmar4 aut
700	1	a Tsilidis, Konstantinos K.4 aut
700	1	a Arden, Nigel4 aut
700	1	a Aslam, Nadim4 aut
700	1	a Bellamy, Nicholas4 aut
700	1	a Birrell, Fraser4 aut
700	1	a Blanco, Francisco J.4 aut
700	1	a Carr, Andrew4 aut
700	1	a Chapman, Kay4 aut
700	1	a Day-Williams, Aaron G.4 aut
700	1	a Deloukas, Panos4 aut
700	1	a Doherty, Michael4 aut
700	1	a Engström, Gunnaru Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)smi-gen
700	1	a Helgadottir, Hafdis T.4 aut
700	1	a Hofman, Albert4 aut
700	1	a Ingvarsson, Thorvaldur4 aut
700	1	a Jonsson, Helgi4 aut
700	1	a Keis, Aime4 aut
700	1	a Keurentjes, J. Christiaan4 aut
700	1	a Kloppenburg, Margreet4 aut
700	1	a Lind, Penelope A.4 aut
700	1	a McCaskie, Andrew4 aut
700	1	a Martin, Nicholas G.4 aut
700	1	a Milani, Lili4 aut
700	1	a Montgomery, Grant W.4 aut
700	1	a Nelissen, Rob G. H. H.4 aut
700	1	a Nevitt, Michael C.4 aut
700	1	a Nilsson, Peteru Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)medf-pni
700	1	a Ollier, William E. R.4 aut
700	1	a Parimi, Neeta4 aut
700	1	a Rai, Ashok4 aut
700	1	a Ralston, Stuart H.4 aut
700	1	a Reed, Mike R.4 aut
700	1	a Riancho, Jose A.4 aut
700	1	a Rivadeneira, Fernando4 aut
700	1	a Rodriguez-Fontenla, Cristina4 aut
700	1	a Southam, Lorraine4 aut
700	1	a Thorsteinsdottir, Unnur4 aut
700	1	a Tsezou, Aspasia4 aut
700	1	a AWallis, Gillian4 aut
700	1	a Wilkinson, J. Mark4 aut
700	1	a Gonzalez, Antonio4 aut
700	1	a Lane, Nancy E.4 aut
700	1	a Lohmander, Stefanu Lund University,Lunds universitet,Ortopedi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Orthopaedics (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)ort-slo
700	1	a Loughlin, John4 aut
700	1	a Metspalu, Andres4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a Jonsdottir, Ingileif4 aut
700	1	a Stefansson, Kari4 aut
700	1	a Slagboom, P. Eline4 aut
700	1	a Zeggini, Eleftheria4 aut
700	1	a Meulenbelt, Ingrid4 aut
700	1	a Ioannidis, John P. A.4 aut
700	1	a Spector, Tim D.4 aut
700	1	a van Meurs, Joyce B. J.4 aut
700	1	a Valdes, Ana M.4 aut
710	2	a Kardiovaskulär forskning - epidemiologib Forskargrupper vid Lunds universitet4 org
773	0	t Annals of the Rheumatic Diseasesd : BMJg 73:12, s. 2130-2136q 73:12<2130-2136x 1468-2060x 0003-4967
856	4	u https://portal.research.lu.se/files/3842252/7695375x primaryx freey FULLTEXT
856	4	u http://dx.doi.org/10.1136/annrheumdis-2012-203114x freey FULLTEXT
856	4	u https://ard.bmj.com/content/73/12/2130.full.pdf
856	4 8	u https://lup.lub.lu.se/record/4982802
856	4 8	u https://doi.org/10.1136/annrheumdis-2012-203114

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Av författaren/redakt...: Evangelou, Evang ...; Kerkhof, Hanneke ...; Styrkarsdottir, ...; Ntzani, Evangeli ...; Bos, Steffan D.; Esko, Tonu; visa fler...; Evans, Daniel S.; Metrustry, Sarah; Panoutsopoulou, ...; Ramos, Yolande F ...; Thorleifsson, Gu ...; Tsilidis, Konsta ...; Arden, Nigel; Aslam, Nadim; Bellamy, Nichola ...; Birrell, Fraser; Blanco, Francisc ...; Carr, Andrew; Chapman, Kay; Day-Williams, Aa ...; Deloukas, Panos; Doherty, Michael; Engström, Gunnar; Helgadottir, Haf ...; Hofman, Albert; Ingvarsson, Thor ...; Jonsson, Helgi; Keis, Aime; Keurentjes, J. C ...; Kloppenburg, Mar ...; Lind, Penelope A ...; McCaskie, Andrew; Martin, Nicholas ...; Milani, Lili; Montgomery, Gran ...; Nelissen, Rob G. ...; Nevitt, Michael ...; Nilsson, Peter; Ollier, William ...; Parimi, Neeta; Rai, Ashok; Ralston, Stuart ...; Reed, Mike R.; Riancho, Jose A.; Rivadeneira, Fer ...; Rodriguez-Fonten ...; Southam, Lorrain ...; Thorsteinsdottir ...; Tsezou, Aspasia; AWallis, Gillian; Wilkinson, J. Ma ...; Gonzalez, Antoni ...; Lane, Nancy E.; Lohmander, Stefa ...; Loughlin, John; Metspalu, Andres; Uitterlinden, An ...; Jonsdottir, Ingi ...; Stefansson, Kari; Slagboom, P. Eli ...; Zeggini, Elefthe ...; Meulenbelt, Ingr ...; Ioannidis, John ...; Spector, Tim D.; van Meurs, Joyce ...; Valdes, Ana M.; visa färre...

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