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Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies 

Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies
Chapter:
Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies
Author(s):

Kate McAllister

and Stephen Eyre

DOI:
10.1093/med/9780199896028.003.0029
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date: 30 October 2020

Chronic inflammatory joint diseases of noninfective origin are common and cause significant long-term morbidity. Rheumatoid arthritis (RA) and most of the related forms of inflammatory arthritis are complex diseases, caused by a combination of both genetic and environmental factors. Although they are often referred to as ‘‘autoimmune disorders,’’ it is far from clear what triggers the abnormal inflammatory processes that characterize these conditions. There has however been substantial progress in determining the nature of genetic susceptibility to these potentially crippling disorders. After 30 years in which the human leukocyte antigen (HLA) genes have stood out as the only oasis in a genetic desert, genome wide association studies (GWAS) have made tremendous progress in identifying a wealth of genetic variants that underlie these complex traits, such that there are now 60 genetic loci associated with onset of RA. 1.Since the application of genome wide association studies it has also become evident that there are emerging patterns of genetic overlap between many autoimmune diseases including RA and the related arthropathies. An example of this is the shared association of three genetic loci (TNIP1, TNFAIP3 and IL2-IL21) between RA and Psoriatic Arthritis (PsA), indicating the likelihood of common molecular mechanisms underlying disease. Determining both the existence of shared genetic pathways and the genes that have key phenotype determining roles to enable effective management of these complex diseases.

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