Table 1.
Association evidence at loci previous identified as influencing ankylosing spondylitis risk
| WTCCC2 discovery sample |
TASC discovery sample |
Replication sample |
Combined | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr. | SNP ID | Positiona | Putative gene |
Risk allele |
P | OR | 95% CI | P | OR | 95% CI | P | OR | 95% CI | P |
| 1p31 | rs11209026 | 67,478,546 | IL23R | G | 1.9 × 10−6 | 1.48 | 1.26–1.73 | 2.8 × 10−7 | 1.90 | 1.49–2.43 | 4.2 × 10−7 | 1.61 | 1.34–1.93 | 2.3 × 10−17 |
| 1q32 | rs2297909 | 199,226,930 | KIF21B | G | 0.0017 | 1.14 | 1.05–1.24 | 0.00034 | 1.22 | 1.09–1.35 | 1.8 × 10−7 | 1.25 | 1.15–1.36 | 5.2 × 10−12 |
| 2p15 | rs10865331 | 62,404,976 | – | A | 2.9 × 10−12 | 1.32 | 1.22–1.43 | 1.7 × 10−9 | 1.34 | 1.22–1.47 | 2.5 × 10−15 | 1.36 | 1.26–1.47 | 6.5 × 10−34 |
| 5q15 | rs30187 | 96,150,086 | ERAP1 | T | 4.3 × 10−13 | 1.35 | 1.24–1.46 | 7.1 × 10−8 | 1.31 | 1.19–1.44 | 1.1 × 10−9 | 1.28 | 1.18–1.39 | 1.8 × 10−27 |
| 6p21 | rs4349859 | 31,473,766 | HLA-B | A | <10−200 | 48.9 | 43.3–55.2 | <10−200 | 90.4 | 72.3–113 | <10−200 | 40.8 | 35.0–47.6 | <10−200 |
| 21q22 | rs378108 | 39,391,390 | – | G | 1.5 × 10−7 | 1.23 | 1.14–1.33 | 2.9 × 10−6 | 1.25 | 1.14–1.38 | 0.059 | 1.08 | 1.00–1.16 | 2.1 × 10−11 |
See text for references. HLA-B27 status is sometimes used as a diagnostic tool (especially in the TASC data), and this ascertainment effect means that estimates of its odds ratio (OR) may be biased upwards. Chr., chromosome.
a
NCBI human genome build 36 coordinates.