Table 1. Existing AS genetic associations and new associations in previously associated loci.
Gene/locus | Cs | Posa | Current SNP | P-value | Risk/Prot | OR, 95% CI | RAF case/Con | Previously reported SNP | r2 | Dʹ | Discovery Study |
---|---|---|---|---|---|---|---|---|---|---|---|
ERAP1 | 5 | 96,244,549 | rs30187 | 3.0×10−34 | T/C | 1.3 (1.28–1.41) | 0.40/0.34 | rs31087 | 1.00 | 1.00 | Burton et al.3 |
IL23R | 1 | 67,702,526 | rs11465804 | 1.3×10−25 | T/G | 1.9 (1.65–2.01) | 0.96/0.93 | rs11209026 | 0.89b | 0.97b | Burton et al.3 |
IL23R | 1 | 67,702,526 | rs11465804 | 1.3×10−25 | T/G | 1.9 (1.65–2.01) | 0.96/0.93 | rs11209032 | 0.03 | 1.00 | Evans et al.4 |
2p15 | 2 | 62,551,472 | rs10865331 | 1.2×10−22 | A/G | 1.3 (1.20–1.32) | 0.43/0.38 | rs10865331 | 1.00 | 1.00 | Reveille et al.5 |
21q22 | 21 | 40,465,534 | rs2836878 | 1.1×10−16 | G/A | 1.3 (1.19–1.32) | 0.77/0.73 | rs2836878 | 1.00 | 1.00 | Reveille et al.5 |
KIF21B-GPR25 | 1 | 200,877,562 | rs7554511 | 3.8×10−16 | C/A | 1.2 (1.18–1.30) | 0.75/0.71 | rs2297909 | 0.89 | 0.96 | Evans et al.4 |
GPR35 | 2 | 241,569,692 | rs3749171 | 5.0×10−12 | T/C | 1.2 (1.15–1.29) | 0.21/0.18 | rs4676410 | 0.86 | 1.00 | Cortes et al.11 |
IL6R | 1 | 154,426,970 | rs2228145 | 1.9×10−8 | A/C | 1.1 (1.09–1.20) | 0.62/0.59 | rs4129267 | 0.97 | 1.00 | Cortes et al.11 |
ANTXR2 | 4 | 80,949,829 | rs4333130 | 5.3×10−8 | T/C | 1.1 (1.09–1.20) | 0.66/0.63 | rs4333130 | 1.00 | 1.00 | Evans et al.4 |
IL1R1 | 2 | 102,663,628 | rs2310173 | 2.3×10−7 | T/G | 1.1 (1.08–1.18) | 0.50/0.47 | rs4851529 | 0.48 | 0.89 | Cortes et al.11 |
IL1R1 | 2 | 102,663,628 | rs2310173 | 2.3×10−7 | T/G | 1.1 (1.08–1.18) | 0.50/0.47 | rs2192752 | 0.02 | 0.23 | Cortes et al.11 |
FCGR2A | 1 | 161,479,745 | rs1801274 | 4.9×10−6 | A/G | 1.1 (1.06–1.16) | 0.50/0.47 | rs1801274 | 1.00 | 1.00 | Cortes et al.11 |
NOS2 | 17 | 26,096,597 | rs2297518 | 2.7×10−6 | A/G | 1.1 (1.08–1.21) | 0.21/0.19 | rs2297518 | 1.00 | 1.00 | Cortes et al.11 |
Abbreviations: AS, ankylosing spondylitis; CI, confidence interval; Cs, chromosome; OR, odds ratio; Prot, protective; Pos, position; RAF, risk allele frequency; SNP, single-nucleotide polymorphism.
Linkage disequilibrium calculated from 1000 Genomes data via the SNAP Browser from the Broad Institute.
Human Genome Build 19.
Calculated from this data set.