The association of each genetic variant with the AS risk.
| Location | AS Risk Variant Type | Gene | Model Construction Set | Independent Validation Set | ||
|---|---|---|---|---|---|---|
| OR (95% CI) | p | OR (95% CI) | p | |||
| CNV | ||||||
| 1q32.2 | Copy number loss | HHAT | 4.04 (2.91–5.62) | 1.68 × 10−17 | 1.72 (1.37–2.15) | 2.51 × 10−6 |
| 2q31.2 | Copy number loss | PRKRA | 3.02 (2.19–4.17) | 1.30 × 10−11 | ||
| 13q13.1 | Copy number loss | EEF1DP3 | 4.06 (2.90–5.67) | 5.16 × 10−17 | 2.08 (1.66–2.61) | 2.74 × 10−10 |
| 16p13.3 | Copy number loss | — | 3.13 (1.73–5.68) | 1.04 × 10−4 | 2.05 (1.30–3.24) | 0.002 |
| SNP | ||||||
| 2p15 | rs10865331 (A) | — | 3.50 (2.48–4.96) | 4.12 × 10−13 | 1.74 (1.37–2.20) | 4.46 × 10−6 |
| 5q15 | rs27044 (G) | ERAP1 | 1.20 (0.85–1.68) | 0.304 | ||
| 5q15 | rs27434 (A) | ERAP1 | 1.10 (0.78–1.55) | 0.599 | ||
| 5q15 | rs27037 (T) | ERAP1 | 0.59 (0.43–0.81) | 0.001 | ||
| 5q15 | rs30187 (T) | ERAP1 | 1.09 (0.77–1.53) | 0.660 | ||
| 5q15 | rs17482078 (C) | ERAP1 | 0.68 (0.24–1.90) | 0.600 | ||
| 5q15 | rs10050860 (C) | ERAP1 | 1.00 (0.99–1.00) | 1.000 | ||
| HLA-B27 | ||||||
| 6p21.33 | Positive | HLA-B27 | 321.34 (157.82–654.29) | 2.50 × 10−135 | 145.40 (95.62–221.09) | 1.9 × 10−230 |
AS: ankylosing spondylitis; CNV: copy number variants; SNP: single-nucleotide polymorphism.