From: A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis
Severity variant (risk allele) | Located in/nearby gene(s) (chromosome) | Risk population | Functional associations |
---|---|---|---|
SE [31] | HLA-DRB1 (chr 6) | All RA | Associated with ACPA-presence |
rs4810485 (T) [32] | CD40 (chr 20) | ACPA-pos | NA |
rs7667746 (G) [33] | IL-15 (chr 4) | All RAa | NA |
rs7665842 (G) [33] | |||
rs4371699 (A) [33] | |||
rs6821171 (A) [33] | |||
rs1896368 (G) [34] | DKK-1 (chr 10) | All RA | Serum level DKK-1 |
rs1896367 (G) [34] | |||
rs1528873 (A) [34] | |||
rs2104286 (T) [35] | IL2RA (chr 10) | All RA | Serum level IL2Rα |
rs8192916 (A) [36] | GRZB (chr 14) | All RAb | RNA expression in whole blood (eQTL) |
rs1119132 (A) [37] | IL4R (chr 16) | All RAc | NA |
rs7607479 (T) [38] | SPAG16 (chr 2) | ACPA-pos | Serum level MMP-3 |
rs26232 (C) [39] | C5orf30 (chr 5) | All RAd | NA |
rs11908352 (A) [20] | MMP-9 (chr 20) | All RAe | Serum level MMP-9 |
rs451066 (A) [20] | rs1465788 (chr 14) | All RAf | NA |
rs1485305 (T) [40] | OPG (chr 8) | All RAg | NA |
rs2900180 (A) | C5-TRAF1 (chr 9) | ACPA-neg | RNA expression whole blood and monocytes |