RT Journal Article SR Electronic T1 Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 JF Annals of the Rheumatic Diseases JO Ann Rheum Dis FD BMJ Publishing Group Ltd and European League Against Rheumatism SP 349 OP 355 DO 10.1136/ard.2010.132787 VO 70 IS 2 A1 Evangelos Evangelou A1 Ana M Valdes A1 Hanneke J M Kerkhof A1 Unnur Styrkarsdottir A1 YanYan Zhu A1 Ingrid Meulenbelt A1 Rik J Lories A1 Fotini B Karassa A1 Przemko Tylzanowski A1 Steffan D Bos A1 arcOGEN Consortium A1 Toru Akune A1 Nigel K Arden A1 Andrew Carr A1 Kay Chapman A1 L Adrienne Cupples A1 Jin Dai A1 Panos Deloukas A1 Michael Doherty A1 Sally Doherty A1 Gunnar Engstrom A1 Antonio Gonzalez A1 Bjarni V Halldorsson A1 Christina L Hammond A1 Deborah J Hart A1 Hafdis Helgadottir A1 Albert Hofman A1 Shiro Ikegawa A1 Thorvaldur Ingvarsson A1 Qing Jiang A1 Helgi Jonsson A1 Jaakko Kaprio A1 Hiroshi Kawaguchi A1 Kalle Kisand A1 Margreet Kloppenburg A1 Urho M Kujala A1 L Stefan Lohmander A1 John Loughlin A1 Frank P Luyten A1 Akihiko Mabuchi A1 Andrew McCaskie A1 Masahiro Nakajima A1 Peter M Nilsson A1 Nao Nishida A1 William E R Ollier A1 Kalliope Panoutsopoulou A1 Tom van de Putte A1 Stuart H Ralston A1 Fernado Rivadeneira A1 Janna Saarela A1 Stefan Schulte-Merker A1 Dongquan Shi A1 P Eline Slagboom A1 Akihiro Sudo A1 Agu Tamm A1 Ann Tamm A1 Gudmar Thorleifsson A1 Unnur Thorsteinsdottir A1 Aspasia Tsezou A1 Gillian A Wallis A1 J Mark Wilkinson A1 Noriko Yoshimura A1 Eleftheria Zeggini A1 Guangju Zhai A1 Feng Zhang A1 Ingileif Jonsdottir A1 Andre G Uitterlinden A1 David T Felson A1 Joyce B van Meurs A1 Kari Stefansson A1 John P A Ioannidis A1 Timothy D Spector A1 Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA) YR 2011 UL http://ard.bmj.com/content/70/2/349.abstract AB Objectives Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including degeneration of the articular cartilage, and its aetiology is multifactorial with a strong postulated genetic component. Methods A meta-analysis was performed of four genome-wide association (GWA) studies of 2371 cases of knee OA and 35 909 controls in Caucasian populations. Replication of the top hits was attempted with data from 10 additional replication datasets. Results With a cumulative sample size of 6709 cases and 44 439 controls, one genome-wide significant locus was identified on chromosome 7q22 for knee OA (rs4730250, p=9.2×10−9), thereby confirming its role as a susceptibility locus for OA. Conclusion The associated signal is located within a large (500 kb) linkage disequilibrium block that contains six genes: PRKAR2B (protein kinase, cAMP-dependent, regulatory, type II, β), HPB1 (HMG-box transcription factor 1), COG5 (component of oligomeric golgi complex 5), GPR22 (G protein-coupled receptor 22), DUS4L (dihydrouridine synthase 4-like) and BCAP29 (B cell receptor-associated protein 29). Gene expression analyses of the (six) genes in primary cells derived from different joint tissues confirmed expression of all the genes in the joint environment.