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. 2008 Sep;9(6):381–393. doi: 10.2174/138920208785699553

Table 1.

Gene Polymorphisms in Rheumatoid Arthritis (RA)

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.