The strongest amino acid associations in autoantibody subgroups of IIM
| Autoantibody | Number of cases | Amino acid association | |||
| Gene | Variant | P value | OR (95% CI) | ||
| Jo-1 | 332 | HLA-DRB1 | Position 74 | Omnibus 3.47×10–64 | |
| Alanine (ref) | |||||
| Arginine | 1.24×10--8 | 2.94 (2.03 to 4.26) | |||
| Glutamine | 0.02 | 0.59 (0.38 to 0.89) | |||
| Leucine | 6.21×10–5 | 2.78 (1.67 to 4.55) | |||
| Glutamic acid | 0.5 | 1.20 (0.70 to 1.96) | |||
| HLA-B | Position 9 | Omnibus 7.03×10–11 | |||
| Tyrosine (ref) | |||||
| Aspartic acid | 2.10×10–10 | 3.33 (2.30 to 4.84) | |||
| Histidine | 0.77 | 0.96 (0.73 to 1.26) | |||
| TIF1 | 197 | HLA-DQB1 | Position 37 | Omnibus 1.49×10–10 | |
| Tyrosine (ref) | |||||
| Isoleucine | 2.34×10–10 | 2.49 (1.88 to 3.31) | |||
| PM/Scl | 136 | HLA-DRB1 | Position 74 | Omnibus 2.48×10–40 | |
| Alanine (ref) | |||||
| Arginine | 5.06×10–25 | 18.37 (10.88 to 32.98) | |||
| Glutamine | 0.43 | 1.26 (0.70 to 2.21) | |||
| Leucine Glutamic acid | 0.58 0.58 | 0.70 (0.17 to 2.32) 1.34 (0.44 to 3.56) | |||
| Mi-2 | 104 | HLA-DRB1 | Position 4 | Omnibus 3.69×10–13 | |
| Arginine (ref) | |||||
| Glutamine | 3.26×10–12 | 4.93 (3.17 to 7.79) | |||
| cN1A | 64 | HLA-DRB1 | Position 74 | Omnibus 6.15×10–14 | |
| Alanine (ref) | |||||
| Arginine | 1.37×10–9 | 8.68 (4.43 to 18.1) | |||
| Glutamine | 0.02 | 0.17 (0.03 to 0.61) | |||
| Leucine | 0.05 | 3.31 (0.93 to 11.02) | |||
| Glutamic acid | 0.43 | 0.45 (0.03 to 2.30) | |||
| SRP | 45 | HLA-DRB1 | Position 74 | Omnibus 1.91×10–5 | |
| Alanine (ref) | |||||
| Arginine | 9.47×10–4 | 3.51 (1.69 to 7.57) | |||
| Glutamine | 0.13 | 0.38 (0.08 to 1.18) | |||
| Leucine | 0.63 | 1.36 (0.32 to 4.34) | |||
| Glutamic Acid | 5.69×10–4 | 5.07 (2.05 to 13.17) | |||
| HMGCR | 42 | HLA-DRB1 | Position 58 | Omnibus 2.42×10–6 | |
| Alanine (ref) | |||||
| Glutamic acid | 5.13×10–6 | 4.91 (2.52 to 9.97) | |||
| SAE | 31 | HLA-DQB1 | Position 57 | Omnibus 2.66×10–6 | |
| Aspartic acid (ref) | |||||
| Alanine | 1.71×10–5 | 8.52 (3.42 to 24.47) | |||
| Valine | 0.41 | 1.61 (0.49 to 4.92) | |||
| Serine | 0.94 | 0.92 (0.04 to 7.66) | |||
OR and 95% CI were calculated in a regression model including significant independent variants, using the most common amino acid in the population as the reference. Associations reaching study-wide significance are reported (p<2.9×10–5).
IIM, idiopathic inflammatory myopathies.