Table 1.
Gene Symbol | Polymorphism Position | Alleles | Possible Effect of Polymorphism | References |
---|---|---|---|---|
TNFα | +1304 | G A |
May contribute to the susceptibility to RA / Possible linkage disequilibrium | [22] |
+489 | G A |
More severe erosive disease | [16] | |
-238 | G A |
More severe articular erosions Less severe articular erosions |
[20] | |
-308 | G A |
Normal production of TNFα Up-regulation of TNFα production |
[19, 18] | |
-857 | C T |
May contribute to the susceptibility to RA / High TNFα production | [23] | |
-863 | C A |
May contribute to the susceptibility to RA / High TNFα production | [21] | |
-1031 | T C |
May contribute to the susceptibility to RA / High TNFα production | [22, 24] | |
TNFa6;b5;c1;d3;e3 | Increased susceptibility to RA | [29] | ||
TNFRSF1B | codon 196 | T G |
More effective in increasing IL-6 production | [26] |
IL-1 | IL-1α -889 | C T |
Altered production of IL-1α | [42] |
IL-1α +4845 (exon 5) |
G T |
Altered production of IL-1α / Increased susceptibility to RA | [34, 38, 41] | |
IL-1β -511 | C T |
Altered production of IL-1RA | [40] | |
IL-1β +3953 (exon 5) |
C T |
Altered production of IL-1RA / Severe joint destruction | [40, 41, 39] | |
IL-1RA +2018 (exon2) |
C T |
Possible pro-inflammatory effect | [43] | |
IL-6 | -174 | G C |
Reduced production of IL-6 | [49] |
-622 | G A |
Reduced production of IL-6 | [48] | |
IL-10 | -1082 | G A |
Up-regulation of IL-10 production in lymphocytes Lower expression levels of IL-10 / Associated with RA in women |
[12] [52, 54] |
-819 | T C |
Lower expression levels of IL-10 / Autoimmune manifestations | [52, 53] | |
-592 | A C |
Lower expression levels of IL-10 / Autoimmune manifestations | [52, 53] | |
HLA | Specific shared epitope alleles (HLA-DR) | May increase susceptibility to and severity of RA | [8-10] |
TNF-α = tumor necrosis factor-α; TNFRSF 1B = TNFreceptor; IL-1 = interleukin-1; IL-6 = interleukin-6; IL-1RA = IL-1 receptor antagonist; HLA = Human Leukocyte Antigen.