Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Rheumatoid arthritis: GWAS or TMI? | Genome Medicine Minireview Rheumatoid arthritis GWAS or TMI Bruce N Cronstein Address New York University School of Medicine 550 First Avenue New York NY 10016 USA. Email cronsb01@ Abstract Genome-wide association studies are the most comprehensive and straightforward approach to teasing out the identity of genetic polymorphisms associated with any given disease or characteristic. With the availability of DNA banks from large cohorts of ethnically matched patients and healthy individuals it is now possible to define even marginal genetic associations between genetic polymorphisms and diseases. As increasing numbers of these studies are carried out and as associations with smaller and smaller risks are identified there is the growing concern that the findings will be of increasingly marginal value. Thus the glut of new genetic associations is rapidly overwhelming our interest in the results a situation that could be described as TMI too much information . Recent genetic association studies in rheumatoid arthritis suggest that we may be approaching the TMI stage of genome-wide association studies. Introduction The risk of developing rheumatoid arthritis RA a common autoimmune disease characterized by inflammation and destruction of the joints has long been known to be at least partially attributable to genetics. Recently Gregersen and colleagues 1 reported that a common single nucleotide polymorphism SNP in the transcriptional regulatory gene REL confers a greater risk of RA on the basis of a solid and extensive investigation of a genome-wide association study GWAS in a large cohort of patients. Increased risk of similar magnitude has also been associated with SNPs in several other genes. Clearly the genetic basis of RA is complex and polymorphisms in various genes have been associated with a greater risk of developing RA or of greater severity of the disease once an individual has RA. The techniques of GWAS can now be applied to a wider and wider
