Table 5. Significantly associated residues across eleven autoimmune diseases within the peptide-binding groove of HLA-DRB1.
Bold red amino-acids denote independently associated risk signals in the strongest associated DRB1 allele, identified by the authors of each study. Bold green amino-acids denote significant protective signals. SLE: lupus, MS: multiple sclerosis, RA: rheumatoid arthritis, T1D: type 1 diabetes, HT: Hashimoto’s thyroiditis, pSS: primary Sjögren’s syndrome, SSc: systemic sclerosis, UC: ulcerative colitis, CD: Crohn’s disease, PV: pemphigus vulgaris, Vi: vitiligo. *: Complete linkage disequilibrium (D’ = 1).
| Disease | Publication (PMID) | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Residue | 1 | 4 | 6 | 7 | 9 | |||||||||||
| Allele | 86 | 26 | 70 | 71 | 74 | 11 | 13 | 30 | 28 | 47 | 67 | 9 | 37 | 57 | ||
| Risk alleles | ||||||||||||||||
| SLE | DRB1*15:01 | V | F | Q | A | A | P* | R* | Y | D | F | I | W | S | D | This study |
| MS | DRB1*15:01 | V | F | Q | A | A | P* | R* | Y | D | F | I | W | S | D | 24278027 |
| RA | DRB1*04:01 | G | F | Q | K | A | V | H | Y | D | Y | L | E | Y | D | 25070946 |
| T1D | DRB1*04:05 | G | F | Q | R | A | V | H | Y | D | Y | L | E | Y | S | 26865843 |
| HT | DRB1*03:01 | V | Y | Q | K | R | S | S | Y | D | F | L | E | N | D | 18779568 |
| pSS | DRB1*08:03 | G | F | D | R | L | S | G | Y | D | Y | I | E | Y | S | 25582848 |
| SSc | DRB1*11:04 | G | F | D | R | A | S | S | Y | D | F | F | E | Y | D | 19933168 |
| UC, CD | DRB1*01:03 | G | L | D | E | A | L | F | C | E | Y | I | W | S | D | 25559196 |
| PV | DRB1*04:02 | V | F | D | E | A | V | H | Y | D | Y | I | E | Y | D | 8524878 |
| Vi | DRB1*07:01 | G | F | D | R | Q | G | Y | L | E | Y | I | W | F | V | 21833019 |
| Protective alleles | ||||||||||||||||
| SLE | DRB1*11:01 | G | F | D | R | A | S | S | Y | D | F | F | E | Y | D | This study |
| MS | DRB1*14:01 | V | F | R | R | E | S | G | Y | D | Y | L | E | F | A | 24278027 |
| RA | DRB1*14:04 | V | F | R | E | E | S | G | Y | D | F | I | E | N | D | 25070946 |
| T1D | DRB1*15:01 | V | F | Q | A | A | P* | R* | Y | D | F | I | W | S | D | 26865843 |
| HT | DRB1*12:01 | V | L | D | R | A | S | G | H | E | F | I | E | L | V | 18779568 |
| pSS | DRB1*12:01 | V | L | D | R | A | S | G | H | E | F | I | E | L | V | 25582848 |
| SSc | DRB1*07:01 | G | F | D | R | Q | G | Y | L | E | Y | I | W | F | V | 19933168 |
| UC, CD | DRB1*03:01 | V | Y | Q | K | R | S | S | Y | D | F | L | E | N | D | 25559196 |
| PV | DRB1*04:04 | V | F | Q | R | A | V | H | Y | D | Y | L | E | Y | D | 8524878 |
| Vi | DRB1*01:01 | G | L | Q | R | A | L | F | C | E | Y | L | W | S | D | 21833019 |