Evidence of association with radiographic severity in ankylosing spondylitis in 11 SNPs genotyped in the discovery and replication phase
| SNP | Chr | Position | Gene | Minor allele | Cervical mSASSS | Lumbar mSASSS | Total mSASSS | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Discovery p value | Replication p value | Combined OR (95% CI) | Combined p value | Discovery p value | Replication p value | Combined OR (95% CI) | Combined p value | Discovery p value | Replication p value | Combined OR (95% CI) | Combined p value | |||||
| rs12725747 | 1 | 226 173 544 | WNT9A | A | 0.01 | 0.97 | 1.44 (1.04 to 1.99) | 0.03 | 0.03 | 0.7 | 1.31 (0.96 to 1.79) | 0.08 | 0.01 | 0.59 | 1.37 (0.99 to 1.89) | 0.06 |
| rs2228545 | 2 | 203 128 957 | BMPR2 | A | 0.96 | 0.5 | 1.08 (0.65 to 1.8) | 0.8 | 0.05 | 0.9 | 1.61 (0.96 to 2.69) | 0.07 | 0.09 | 0.88 | 1.48 (0.86 to 2.55) | 0.16 |
| rs27911 | 5 | 14 760 378 | ANKH | G | 3.1×10−3 | 0.4 | 0.55 (0.36 to 0.84) | 0.01 | 0.48 | 0.5 | 0.82 (0.54 to 1.23) | 0.3 | 0.01 | 0.58 | 0.60 (0.39 to 0.93) | 0.02 |
| rs928501 | 6 | 132 317 130 | CTGF | T | 0.03 | 0.9 | 1.24 (0.99 to 1.57) | 0.06 | 0.01 | 0.7 | 1.32 (1.05 to 1.64) | 0.02 | 2.93×10−3 | 1.00 | 1.34 (1.07 to 1.69) | 0.01 |
| rs1236913 | 9 | 124 173 300 | PTGS1 | T | 0.06 | 0.2 | 0.65 (0.44 to 0.94) | 0.02 | 0.31 | 0.4 | 0.79 (0.56 to 1.11) | 0.2 | 0.04 | 2.99×10−3 | 0.53 (0.35 to 0.8) | 2.56×10−3 |
| rs7909264 | 10 | 88 679 764 | BMPR1A | C | 0.3 | 0.2 | 0.92 (0.64 to 1.32) | 0.6 | 0.28 | 0.4 | 0.90 (0.64 to 1.26) | 0.5 | 0.02 | 0.09 | 0.82 (0.57 to 1.17) | 0.27 |
| rs470504 | 11 | 102 163 899 | MMP1 | T | 4×10−3 | 0.7 | 1.38 (1.01 to 1.88) | 0.04 | 0.01 | 0.3 | 1.29 (0.95 to 1.74) | 0.1 | 0.04 | 0.31 | 1.20 (0.88 to 1.65) | 0.26 |
| rs470558 | 11 | 102 171 526 | MMP1 | T | 0.07 | 0.95 | 1.37 (0.91 to 2.06) | 0.1 | 0.04 | 0.9 | 1.43 (0.96 to 2.14) | 0.08 | 0.05 | 0.25 | 1.23 (0.8 to 1.88) | 0.34 |
| rs833843 | 12 | 47 650 658 | WNT10B | A | 1.6×10−4 | 0.5 | 1.51 (1.21 to 1.88) | 2.2×10−4 | 0.20 | 0.8 | 1.15 (0.93 to 1.41) | 0.2 | 3.15×10−3 | 0.06 | 1.48 (1.18 to 1.84) | 5.26×10−4 |
| rs851056 | 17 | 39 192 708 | SOST | G | 0.7 | 0.7 | 0.99 (0.8 to 1.21) | 0.9 | 0.03 | 0.7 | 0.84 (0.69 to 1.03) | 0.09 | 0.14 | 0.88 | 0.87 (0.71 to 1.07) | 0.19 |
| rs8092336 | 18 | 58 187 063 | RANK | A | 0.08 | 0.2 | 0.60 (0.38 to 0.95) | 0.03 | 0.04 | 0.2 | 0.61 (0.4 to 0.92) | 0.02 | 8.73×10−5 | 0.02 | 0.31 (0.19 to 0.53) | 1.24×10−5 |
Bonferroni corrected significance level (463 independent tests) was 10−4. Effect sizes were disease duration and gender corrected.
mSASSS, modified Stoke Ankylosing Spondylitis Spinal Score; SNP, single nucleotide polymorphism.