Genetics of immune-mediated inflammatory diseases. (2nd February 2018)

• Record Type: Journal Article
• Authors: David, T; Ling, S F; Barton, A
• Is Part Of: Clinical and experimental immunology. Volume 193:Number 1(2018:Jul.)
• Page Start: 3
• Page End: 12
• Publication Date: 2018-02-02
• Subjects: arthritis (including rheumatoid arthritis) -- autoinflammatory disease -- genomics -- inflammation -- systemic lupus erythematosus; Immunopathology -- Periodicals; 616.079
• DOI: 10.1111/cei.13101
• Languages: English
• ISSNs: 0009-9104

Abstract

Summary: Immune-mediated inflammatory diseases (IMIDs) are characterized by dysregulation of the normal immune response, which leads to inflammation. Together, they account for a high disease burden in the population, given that they are usually chronic conditions with associated co-morbidities. Examples include systemic lupus erythematosus, rheumatoid arthritis, Crohn's disease and type 1 diabetes. Since the advent of genome-wide association studies, evidence of considerable genetic overlap in the loci predisposing to a wide range of IMIDs has emerged. Understanding the genetic risk and extent of genetic overlap between IMIDs may help to determine which genes control which aspects of the different diseases; it may identify potential novel therapeutic targets for a number of these conditions, and/or it may facilitate repurposing existing therapies developed originally for different conditions. The findings show that autoantibody-mediated autoimmune diseases cluster more closely with each other than autoantibody-negative diseases such as psoriasis, psoriatic arthritis, Crohn's disease and ankylosing spondylitis which, instead, form a seronegative genetic cluster. The genetic clustering largely mirrors the known response to existing biological therapies, but apparent anomalies in treatment response are discussed. Graphical Abstract: