دورية أكاديمية
Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
| العنوان: | Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 |
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| المؤلفون: | Evangelou, E., Valdes, A. M., Kerkhof, H. J. M., Styrkarsdottir, U., Zhu, Y., Meulenbelt, I., Lories, R. J., Karassa, F. B., Tylzanowski, P., Bos, S. D., Rayner, N. W., Southam, L., Zhai, G., Elliott, K. S., Hunt, S. E., Blackburn, H., Potter, S. C., Day-Williams, A. G., Beazley, C., Akune, T., Arden, N. K., Carr, A., Chapman, K., Cupples, L. A., Dai, J., Deloukas, P., Doherty, M., Doherty, S., Engstrom, G., Gonzalez, A., Halldorsson, B. V., Hammond, C. L., Hart, D. J., Helgadottir, H., Hofman, A., Ikegawa, S., Ingvarsson, T., Jiang, Q., Jonsson, H., Kaprio, J., Kawaguchi, H., Kisand, K., Kloppenburg, M., Kujala, U. M., Lohmander, L. S., Loughlin, J., Luyten, F. P., Mabuchi, A., McCaskie, A., Nakajima, M., Nilsson, P. M., Nishida, N., Ollier, W. E. R., Panoutsopoulou, K., Van De Putte, T., Ralston, S. H., Rivadeneira, F., Saarela, J., Schulte-Merker, S., Shi, D., Slagboom, P. E., Sudo, A., Tamm, A., Thorleifsson, G., Thorsteinsdottir, U., Tsezou, A., Wallis, G. A., Wilkinson, J. M., Yoshimura, N., Zeggini, E., Zhang, F., Jonsdottir, I., Uitterlinden, A. G., Felson, D. T., Van Meurs, J. B., Stefansson, K., Ioannidis, J. P. A., Spector, T. D. |
| المصدر: | http://www.scopus.com/inward/record.url?eid=2-s2.0-78751703383&partnerID=40&md5=28c29c8504504e22fd54863a762039b3Test. |
| سنة النشر: | 2011 |
| المجموعة: | University of Thessaly Institutional Repository / Ιδρυματικό Αποθετήριο Πανεπιστημίου Θεσσαλίας |
| مصطلحات موضوعية: | B lymphocyte receptor, B lymphocyte receptor associated protein 29, cell protein, component of oligomeric golgi complex 5, cyclic AMP dependent protein kinase regulatory subunit IIbeta, dihydrouridine synthase 4, G protein coupled receptor 22, guanine nucleotide binding protein, HMG box transcription factor 1, synthetase, transcription factor, unclassified drug, adult, article, Caucasian, chromosome 7q, controlled study, female, gene expression, gene linkage disequilibrium, gene locus, gene replication, genetic association, genetic susceptibility, human, knee osteoarthritis, major clinical study, male, meta analysis, priority journal |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | 34967; http://hdl.handle.net/11615/27392Test |
| DOI: | 10.1136/ard.2010.132787 |
| الإتاحة: | https://doi.org/10.1136/ard.2010.132787Test http://hdl.handle.net/11615/27392Test |
| رقم الانضمام: | edsbas.5B8571B2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/ard.2010.132787 |
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