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Báo cáo y học: "GWASs and the age of human as the model organism for autoimmune genetic research"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: GWASs and the age of human as the model organism for autoimmune genetic research. | Plenge Genome Biology 2010 11 212 http genomebiology.eom 2010 11 5 212 w Genome Biology REVIEW L_ GWASs and the age of human as the model organism for autoimmune genetie research Robert Plenge Abstract Genetic studies have identified more than 150 autoimmune loci and next-generation sequencing will identify more. Is it time to make human the model organism for autoimmune research Human genetics - linking inherited variation in DNA sequence with traits such as susceptibility to disease -provides prima facie evidence that a gene and a pathway are associated with a disease. The most recent wave of genomic technology has allowed human genomes to be scanned for variant DNA sequences or alleles in many people to determine which alleles are associated with a particular disease or phenotype of interest. Termed genome-wide association studies or GWASs this approach has identified hundreds of alleles that are associated with a variety of human traits 1 2 . By most accounts the GWAS approach has been very successful at identifying new regions of the genome or loci that are important in disease even though the effect sizes of most alleles are modest. The GWAS approach has been particularly successful at uncovering risk alleles for autoimmune diseases. Collectively autoimmune diseases are common affecting more than 5 of the adult population 3 . These diseases include rheumatoid arthritis RA type 1 diabetes T1D inflammatory bowel disease IBD systemic lupus erythematosus SLE multiple sclerosis MS psoriasis and celiac disease among others . RA is a chronic inflammatory disease that destroys free moving joints. T1D is a form of diabetes that results from the destruction of insulin-producing beta cells of the pancreas. IBD is a group of inflammatory conditions of the colon and small intestine the two major types are Crohn s disease and ulcerative colitis. In SLE the immune system attacks Correspondence rplenge@partners.org Brigham and Women s Hospital Division of Rheumatology