Skip to main content

Table 3 Overview of genetic variants for radiographic progression that are replicated in independent cohorts or found significant in meta-analysis

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

  1. aAfter adjustment for ACPA, comparable effect sizes were observed (data not shown); bafter stratification for ACPA, significant associations were observed in both subgroups (ACPA-negative beta = 1.05 and P = 1.98 × 10−3; ACPA-positive beta = 1.03 and P = 5.40 × 10−2); cafter stratification for ACPA, comparable effect sizes were observed in both subgroups (data not shown); dafter adjustment for ACPA and RF a significant association was observed (beta = 0.90, P = 0.03); eafter stratification for ACPA, the effect size was larger in the ACPA-positive than in the ACPA-negative subgroup. However, considering the small number of patients per subgroup, none of the analyses resulted in significant P-values; fafter stratification for ACPA, almost similar effect sizes were observed in both subgroups. However, considering the small number of patients per subgroup, none of the analyses resulted in significant P-values; gafter stratification, a significant association was observed in ACPA-negative patients (beta = 1.29, P = 0.001) but not in ACPA-positive patients, although a similar trend was observed (beta = 1.14, P = 0.11). After adjustment for ACPA and RF the association remained significant (beta = 1.20, P = 0.02). ACPA, anti-citrullinated peptide antibodies; eQTL, expression quantitative trait locus; MMP, matrix metalloproteinase; NA, not applicable; RA, rheumatoid arthritis.