@article {Evangelou349, author = {Evangelos Evangelou and Ana M Valdes and Hanneke J M Kerkhof and Unnur Styrkarsdottir and YanYan Zhu and Ingrid Meulenbelt and Rik J Lories and Fotini B Karassa and Przemko Tylzanowski and Steffan D Bos and arcOGEN Consortium and Toru Akune and Nigel K Arden and Andrew Carr and Kay Chapman and L Adrienne Cupples and Jin Dai and Panos Deloukas and Michael Doherty and Sally Doherty and Gunnar Engstrom and Antonio Gonzalez and Bjarni V Halldorsson and Christina L Hammond and Deborah J Hart and Hafdis Helgadottir and Albert Hofman and Shiro Ikegawa and Thorvaldur Ingvarsson and Qing Jiang and Helgi Jonsson and Jaakko Kaprio and Hiroshi Kawaguchi and Kalle Kisand and Margreet Kloppenburg and Urho M Kujala and L Stefan Lohmander and John Loughlin and Frank P Luyten and Akihiko Mabuchi and Andrew McCaskie and Masahiro Nakajima and Peter M Nilsson and Nao Nishida and William E R Ollier and Kalliope Panoutsopoulou and Tom van de Putte and Stuart H Ralston and Fernado Rivadeneira and Janna Saarela and Stefan Schulte-Merker and Dongquan Shi and P Eline Slagboom and Akihiro Sudo and Agu Tamm and Ann Tamm and Gudmar Thorleifsson and Unnur Thorsteinsdottir and Aspasia Tsezou and Gillian A Wallis and J Mark Wilkinson and Noriko Yoshimura and Eleftheria Zeggini and Guangju Zhai and Feng Zhang and Ingileif Jonsdottir and Andre G Uitterlinden and David T Felson and Joyce B van Meurs and Kari Stefansson and John P A Ioannidis and Timothy D Spector and Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA)}, title = {Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22}, volume = {70}, number = {2}, pages = {349--355}, year = {2011}, doi = {10.1136/ard.2010.132787}, publisher = {BMJ Publishing Group Ltd}, abstract = {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{\texttimes}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.}, issn = {0003-4967}, URL = {https://ard.bmj.com/content/70/2/349}, eprint = {https://ard.bmj.com/content/70/2/349.full.pdf}, journal = {Annals of the Rheumatic Diseases} }