Genetic Basis of Rheumatic Diseases and the Importance of GWAS in Paediatric Rheumatology
نویسندگان
چکیده
Received: Aug 08, 2014 Accepted: Aug 31, 2014 Ann Paediatr Rheum 2014;3:105-115 DOI: 10.5455/apr. 083120140856 Introduction The much-cited landmark publication by the WTCCC (Wellcome Trust Case Control Consortium [1]) in 2007 utilized genome-wide association studies (GWAS) to investigate the genetic basis of seven common diseases, including rheumatoid arthritis (RA). These studies were performed in a British population with approximately 2,000 individuals with each disease compared to a shared set of 3,000 healthy controls. For RA, three association signals reaching P<5x10-7 were revealed. While paediatric diseases were not investigated in that seminal study, the methodology has since been embraced by the paediatric rheumatology research community. This powerful tool has recently resulted in new insights into disease susceptibility and response to therapy. Details of GWAS experimental design and statistics are available in an excellent review [2]. Abstract
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