Table 2. Previously validated genetic variants for radiological progression reported by Van Steenbergen et al [7], and their association with radiological damage.
| Trans-ethnic | European | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Variant | Gene | Chr | A1/A2 | A1 Freq. | Cohort Direction | P | A1 Freq. | Cohort Direction | P |
| rs7607479 | SPAG16 | 2 | T/C | 0.53 | -+?-?++ | 4.4x10-3 | 0.55 | -+?-?+ | 4.0x10-3 |
| rs4371699 | IL-15 | 4 | A/C | 0.33 | ++?+?++ | 0.0869 | 0.38 | ++?+?+ | 0.0445 |
| rs6821171 | IL-15 | 4 | T/G | 0.66 | +--+?++ | 0.7913 | 0.65 | +--+?+ | 0.5901 |
| rs7665842 | IL-15 | 4 | T/C | 0.65 | -++-?-+ | 0.6102 | 0.63 | -++-?- | 0.4719 |
| rs7667746 | IL-15 | 4 | T/C | 0.60 | -+?-?-+ | 0.3014 | 0.55 | -+?-?- | 0.1528 |
| rs26232 | C5orf30 | 5 | T/C | 0.45 | --+--++ | 0.5763 | 0.46 | --+--+ | 0.4193 |
| rs660895 | HLA-DRB1*04:01 | 6 | A/G | 0.56 | --+-- | 7.0x10-5 | 0.54 | ------ | 1.6x10-5 |
| rs1485305 | OPG | 8 | A/T | 0.50 | +++-?+- | 0.7832 | 0.53 | +++-?+ | 0.5594 |
| rs1528873 | DKK-1 | 10 | A/C | 0.55 | ++?-?-- | 0.4979 | 0.53 | ++?-?- | 0.6317 |
| rs1896367 | DKK-1 | 10 | T/C | 0.44 | ++?+?+? | 0.1337 | 0.44 | ++?+?+ | 0.1304 |
| rs1896368 | DKK-1 | 10 | T/C | 0.47 | ++?+?+- | 0.2077 | 0.50 | ++?+?+ | 0.1749 |
| rs2104286 | IL2RA | 10 | T/C | 0.56 | -+-++-? | 0.8596 | 0.55 | -+-++- | 0.9270 |
| rs451066 | RAD51L1, ZFP36L1 | 14 | A/G | 0.41 | -+-++-+ | 0.6024 | 0.44 | -+-++- | 0.6415 |
| rs8192916 | GRZB | 14 | A/G | 0.43 | +-?+??- | 0.7444 | 0.39 | +-?+?? | 0.7408 |
| rs1119132 | IL-4R | 16 | A/G | 0.38 | --+-+++ | 0.1923 | 0.41 | --++++ | 0.1912 |
| rs11908352 | MMP-9 | 20 | A/C | 0.41 | ++--+-+ | 0.2055 | 0.43 | ++--+- | 0.2169 |
| rs4810485 | CD40 | 20 | T/G | 0.41 | +--+-+- | 0.4666 | 0.44 | +--+-+ | 0.4924 |
Cohort direction indicates the direction of the SNP A1 allele effect on X-ray damage across the cohorts (+ means it is associated with increased damage,—means it is associated with decreased damage, and ? means the SNP was unavailable in the cohort). Cohort order comprises YEAR, BRASS, CARDERA, SLRAS, Leiden, NARAC, GENRA in the trans-ethnic analysis and YEAR, BRASS, CARDERA, SLRAS, Leiden, and NARAC in the European analysis); results in the table are from the primary analysis (including age and gender as covariates). Note that (a) Stouffer’s meta-analysis method does not permit effect sizes to be calculated, and (b) the effect direction for the SLRAS cohort differs at two markers (rs660895 and rs1119132) because it is a mixed-ethnicity cohort and different individuals were included in the trans-ethnic and European analyses in this GWAS.