Table 2.
HLA Residues Associated at the Genome-wide Level of Significance of the Amino Acid Positions Included in the Model that Best Explains the HLA Association with Giant Cell Arteritis
| Molecule | Amino Acid Residues | Population |
Residue Frequency |
p Value | OR (95% CI) | Classical HLA Alleles | |
|---|---|---|---|---|---|---|---|
| GCA | CTRL | ||||||
| HLA-DRβ1 | His13∗ | Meta-analysis | 5.12 × 10−38 | 1.92 (1.74–2.12) | 04:01, 04:02, 04:03, 04:04, 04:05, 04:07, and 04:08 | ||
| Spain | 0.2097 | 0.1272 | 7.24 × 10−14 | 1.94 (1.63–2.31) | |||
| UK | 0.3247 | 0.1944 | 1.81 × 10−12 | 2.00 (1.65–2.43) | |||
| North America | 0.2854 | 0.1651 | 9.44 × 10−9 | 2.02 (1.59–2.57) | |||
| Italy | 0.1155 | 0.0724 | 1.54 × 10−3 | 1.71 (1.23–2.37) | |||
| Norway | 0.3182 | 0.2233 | 9.29 × 10−3 | 1.64 (1.13–2.38) | |||
| Germany | 0.2263 | 0.1451 | 2.19 × 10−3 | 1.77 (1.23–2.54) | |||
| Ser13∗ | Meta-analysis | 3.27 × 10−8 | 0.79 (0.73–0.86) | 03:01, 11:01, 11:02, 11:03, 11:04, 13:01, 13:02, 13:03, 13:05, 14:01, and 14:02 | |||
| Spain | 0.3270 | 0.4123 | 9.70 × 10−9 | 0.68 (0.60–0.78) | |||
| UK | 0.1633 | 0.2087 | 1.57 × 10−2 | 0.74 (0.58–0.95) | |||
| North America | 0.3317 | 0.3699 | 1.53 × 10−1 | 0.85 (0.68–1.06) | |||
| Italy | 0.4958 | 0.5028 | 8.88 × 10−1 | 0.99 (0.81–1.20) | |||
| Norway | 0.3030 | 0.3115 | 8.00 × 10−1 | 0.95 (0.67–1.37) | |||
| Germany | 0.3737 | 0.3739 | 8.36 × 10−1 | 0.97 (0.71–1.32) | |||
| HLA-DQα1 | Gln47 | Meta-analysis | 1.38 × 10−35 | 1.85 (1.68–2.04) | 03:01 | ||
| Arg56∗ | Spain | 0.2156 | 0.1381 | 4.86 × 10−12 | 1.81 (1.53–2.15) | ||
| Val76 | UK | 0.3327 | 0.2069 | 3.36 × 10−11 | 1.91 (1.58–2.31) | ||
| North America | 0.3024 | 0.1758 | 4.32 × 10−9 | 2.02 (1.60–2.56) | |||
| Italy | 0.1218 | 0.0776 | 1.52 × 10−3 | 1.69 (1.22–2.34) | |||
| Norway | 0.3384 | 0.2326 | 4.20 × 10−3 | 1.71 (1.19–2.47) | |||
| Germany | 0.2368 | 0.1564 | 3.26 × 10−3 | 1.71 (1.20–2.44) | |||
| Arg47 | Meta-analysis | 3.84 × 10−29 | 0.61 (0.56–0.67) | 01:01, 01:02, and 01:03 | |||
| Gly56∗ | Spain | 0.3014 | 0.3767 | 2.20 × 10−7 | 0.70 (0.61–0.80) | ||
| Met76 | UK | 0.2410 | 0.3885 | 5.27 × 10−11 | 0.50 (0.41–0.61) | ||
| North America | 0.2732 | 0.4007 | 1.46 × 10−6 | 0.56 (0.44–0.71) | |||
| Italy | 0.2668 | 0.3622 | 5.40 × 10−5 | 0.64 (0.52–0.79) | |||
| Norway | 0.2727 | 0.4412 | 3.68 × 10−5 | 0.46 (0.32–0.67) | |||
| Germany | 0.3211 | 0.4382 | 1.90 × 10−3 | 0.60 (0.44–0.83) | |||
| HLA-B | Thr45∗ | Meta-analysis | 3.78 × 10−9 | 0.76 (0.69–0.83) | 18:01, 35:01, 35:02, 35:03, 35:08, 35:12, 37:01, 51:01, 51:06, 51:08, 52:01, 53:01, and 58:01 | ||
| Spain | 0.2608 | 0.3082 | 5.57 × 10−4 | 0.78 (0.68–0.90) | |||
| UK | 0.1175 | 0.1703 | 1.80 × 10−3 | 0.65 (0.49–0.85) | |||
| North America | 0.1756 | 0.2383 | 6.83 × 10−3 | 0.69 (0.53–0.90) | |||
| Italy | 0.3718 | 0.4331 | 1.87 × 10−2 | 0.78 (0.64–0.96) | |||
| Norway | 0.1162 | 0.1551 | 1.48 × 10−1 | 0.70 (0.43–1.13) | |||
| Germany | 0.2105 | 0.2167 | 8.83 × 10−1 | 0.97 (0.68–1.39) | |||
The classical HLA alleles in our dataset that contain those amino acids are shown. Asterisk (∗) indicates amino acids involved in antigen binding.