Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular decalcification, subsequently resulting in impaired joint function. It is more common between the ages of 35 and 50 years, affecting three times more women than men. Susceptibility to RA is genetically determined with multiple genes contributing. Inheritance of HLA DRB1 alleles encoding a distinctive five-amino-acid sequence known as the "shared epitope" (SE) is the best characterized genetic risk factor. The mechanism by which the SE alleles contribute to the development of RA is not very clear. It has been postulated that the presence of these conserved sequences in the antigen-binding groove alters the way antigenic peptides are bound to and presented to T-cell lymphocytes. This, in turn, may trigger abnormal immune responses and lead to RA.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
Immune system diseases
Allergies and autoimmune diseases
H00630 Rheumatoid arthritis
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Arthropathies
Inflammatory arthropathies
FA20 Rheumatoid arthritis
H00630 Rheumatoid arthritis
Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K
Title
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
Journal
Nat Genet 35:341-8 (2003) DOI:10.1038/ng1267
Reference
PMID:20980283
Authors
Dawidowicz K, Allanore Y, Guedj M, Pierlot C, Bombardieri S, Balsa A, Westhovens R, Barrera P, Alves H, Teixeira VH, Petit-Teixeira E, van de Putte L, van Riel P, Prum B, Bardin T, Meyer O, Cornelis F, Dieude P
Title
The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype.
Journal
Ann Rheum Dis 70:117-21 (2011) DOI:10.1136/ard.2010.129171
Reference
PMID:15208781
Authors
Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK
Title
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
Journal
Am J Hum Genet 75:330-7 (2004) DOI:10.1086/422827
Reference
PMID:17665434
Authors
Marinou I, Healy J, Mewar D, Moore DJ, Dickson MC, Binks MH, Montgomery DS, Walters K, Wilson AG
Title
Association of interleukin-6 and interleukin-10 genotypes with radiographic damage in rheumatoid arthritis is dependent on autoantibody status.
Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T
Title
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.
Journal
Nat Genet 37:486-94 (2005) DOI:10.1038/ng1544
Reference
PMID:12509789
Authors
Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
Title
Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.
Journal
Am J Hum Genet 72:303-12 (2003) DOI:10.1086/346067
Reference
PMID:18794858
Authors
Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K
Title
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
Journal
Nat Genet 40:1224-9 (2008) DOI:10.1038/ng.205
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