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Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.


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 × 10??), 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, ?), 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.

SUBMITTER: Evangelou E 

PROVIDER: S-EPMC3615180 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature

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Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.

Evangelou Evangelos E   Valdes Ana M AM   Kerkhof Hanneke J M HJ   Styrkarsdottir Unnur U   Zhu Yanyan Y   Meulenbelt Ingrid I   Lories Rik J RJ   Karassa Fotini B FB   Tylzanowski Przemko P   Bos Steffan D SD   Akune Toru T   Arden Nigel K NK   Carr Andrew A   Chapman Kay K   Cupples L Adrienne LA   Dai Jin J   Deloukas Panos P   Doherty Michael M   Doherty Sally S   Engstrom Gunnar G   Gonzalez Antonio A   Halldorsson Bjarni V BV   Hammond Christina L CL   Hart Deborah J DJ   Helgadottir Hafdis H   Hofman Albert A   Ikegawa Shiro S   Ingvarsson Thorvaldur T   Jiang Qing Q   Jonsson Helgi H   Kaprio Jaakko J   Kawaguchi Hiroshi H   Kisand Kalle K   Kloppenburg Margreet M   Kujala Urho M UM   Lohmander L Stefan LS   Loughlin John J   Luyten Frank P FP   Mabuchi Akihiko A   McCaskie Andrew A   Nakajima Masahiro M   Nilsson Peter M PM   Nishida Nao N   Ollier William E R WE   Panoutsopoulou Kalliope K   van de Putte Tom T   Ralston Stuart H SH   Rivadeneira Fernado F   Saarela Janna J   Schulte-Merker Stefan S   Shi Dongquan D   Slagboom P Eline PE   Sudo Akihiro A   Tamm Agu A   Tamm Ann A   Thorleifsson Gudmar G   Thorsteinsdottir Unnur U   Tsezou Aspasia A   Wallis Gillian A GA   Wilkinson J Mark JM   Yoshimura Noriko N   Zeggini Eleftheria E   Zhai Guangju G   Zhang Feng F   Jonsdottir Ingileif I   Uitterlinden Andre G AG   Felson David T DT   van Meurs Joyce B JB   Stefansson Kari K   Ioannidis John P A JP   Spector Timothy D TD  

Annals of the rheumatic diseases 20101110 2


<h4>Objectives</h4>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.<h4>Methods</h4>A meta-analysis was performed of four genome-wide association (GWA) studies of 2371 cases of knee OA and 35 909 controls in Caucasian popul  ...[more]

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