Table 3.
Major findings on HLA associations in autoimmune diseases obtained from MHC fine-mapping studies
| Disease | HLA class (top association) | HLA loci associated with risk | Independently associated HLA variants | Population | Reference |
|---|---|---|---|---|---|
| Rheumatoid arthritis | II | HLA-DRB1, HLA-B, HLA-DPB1 | HLA-DRβ1 AA 11 and 13, 71, 74; HLA-B AA 9; HLA-DPβ1 AA 9 | European | [51] |
| II | HLA-DRB1, HLA-B, HLA-DPB1 | HLA-DRβ1 AA 11 and 13, 57, 74; HLA-B AA 9; HLA-DPβ1 AA 9 | East Asian | [31] | |
| II | HLA-DRB1 | HLA-DRβ1 AA 11 and 13 | East Asian | [52] | |
| II | HLA-DRB1, HLA-DPB1, HLA-DOA, HLA-B | HLA-DPβ1 AA 84; rs378352 (HLA-DOA); HLA-B*40:02 | East Asian | [53] | |
| Systemic lupus erythematous | II | HLA-DRB1 | HLA-DRβ1 AA 11 and 13 | East Asian | [52] |
| II | HLA-C, HLA-B, HLA-DRB1, HLA-DQA1, HLA-DQB1 | HLA-DRB1∗15:03; HLA-DQB1∗02:02, 03:19; HLA-DQA1∗05:01 02:01, 05:05; HLA-B∗08:01; HLA-C∗17:01 | African | [54] | |
| II | HLA-DQB1, HLA-B, HLA-DRB3, HLA-DQA1 | HLA-DQB1∗02:01; HLA-B∗08:01, 18:01; HLA-DRB3∗02; HLA-DQA1∗01:02 | European | [54] | |
| Dermatomyositis | II | HLA-DPB1 | HLA-DPB1*17 | East Asian | [55] |
| Idiopathic inflammatory myositis | II | HLA-DRB1, HLA-B, HLA-DQB1 | HLA-DRB1*03:01; HLA-B*08:01; HLA-DQβ1 AA 57; HLA-DQB1*04:02 | European | [56] |
| Juvenile idiopathic arthritis | II | HLA-DRB1, HLA-DPB1, HLA-A, HLA-B | HLA-DRβ1 AA 13; HLA-DPB1*02:01; HLA-A AA 95; HLA-B AA 152 | European | [57] |
| Sjögren's syndrome | II | HLA-DQB1 | HLA-DQB1*0201 | European | [58] |
| Granulomatosis with polyangiitis | II | HLA-DPB1 | HLA-DPB1*04 | European | [59] |
| Eosinophilic granulomatosis with polyangiitis | II | HLA-DRB1, HLA-DQA1, HLA-DRB1 | HLA-DRB1*08:01; HLA-DQA1*02:01; HLA-DRB1*01:03 | European | [60] |
| Ankylosing spondylitis | I | HLA-B, HLA-A, HLA-DPB1, HLA-DRB1 | HLA-B*27, 07:02 and 57:01; HLA-A*02:01; rs1126513 (HLA-DPB1); HLA-DRB1*01:03 | European | [61] |
| Psoriasis | I | HLA-C, HLA-B, HLA-DPB1 | HLA-C*06:02, 07:04; HLA-B AA 9, 67; HLA-DPB1*05:01 | East Asian | [33] |
| I | HLA-A, HLA-C, HLA-DQB1 | HLA-A*02:07; HLA-C*06:02; HLA-DQβ1 AA 57 | East Asian | [62] | |
| Celiac disease | II | HLA-DQB1, HLA-DQA1 | HLA-DQβ1 AA 74, 57; HLA-DQα1 AA 47, 25 | European | [63] |
| Type I diabetes | II | HLA-DQB1, HLA-DRB1, HLA-B, HLA-A | HLA-DQβ1 AA 57, HLA-DRβ1 AA 13, 71; HLA-B*39:06; HLA-DPB1*04:02; HLA-A AA 62 | European | [8] |
| II | HLA-DQB1, HLA-DRB1, HLA-A, HLA-C | rs1770 (HLA-DQB1); HLA-DRβ1 AA 74, 11; HLA-A AA 9; HLA-C AA 275 | East Asian | [65] | |
| II | HLA-DQB1, HLA-DRB1, HLA-B, HLA-A | HLA-DQβ1 AA 185, 30, 70; HLA-DRβ1 AA 71, 74; HLA-B*54:01; HLA-A AA 62 | East Asian, European | [20] | |
| Grave's disease | II | HLA-DPB1, HLA-A, HLA-B, HLA-DRB1 | HLA-DPβ1 AA 35, 9; HLA-A AA 9; HLA-B AA 45, 67; HLA-DRβ1 AA 74 | East Asian | [32] |
| Crohn's disease | II | HLA-DRB1, HLA-C | HLA-DRB1*01:03; HLA-C*06:02 | European | [66] |
| II | HLA-DRB1, HLA-DQB1 | HLA-DRβ1 AA 37, 57, HLA-DRB1*04:03 | East Asian | [67] | |
| Ulcerative colitis | II | HLA-DQA1, HLA-DRB1, HLA-C | rs6927022(HLA-DQA1); HLADRB1*01:03; HLA-C*12:02 | European | [66] |
| Pulmonary alveolar proteinosis | II | HLA-DRB1 | HLA-DRB1*08:03; HLA-DPβ1 AA 8 | East Asian | [68] |
| Primary biliary cholangitis | II | HLA-DRB1, HLA-DPB1 | HLA-DRB1*08 and 14; HLA-DPB1*03:01 | European | [69] |
| II | HLA-DPB1, HLA-DRB1 | HLA-DPβ1 AA 11; HLA-DRβ1 AA 74; HLA-DQβ1 AA 57; HLA-C AA 155; HLA-DQα1 AA 13 | European | [70] | |
| II | HLA-DRB1, HLA-DQB1, HLA-DPB1 | HLA-DRβ1 AA 74; HLA-DQβ1 AA 55; HLA-DPβ1 AA 85, 55 | East Asian | [71] | |
| Multiple sclerosis | II | HLA-DRB1, HLA-A, HLA-DPB1, HLA-B | HLA-DRB1*15:01, 03:01, 13:03, 04:04, 04:01, 14:01; HLA-A*02:01; HLA-DPβ1 AA 65; rs2516489; HLA-B*37:01, 38:01 | European | [72] |
| II | HLA-DRB1, HLA-A, HLA-DPB1, HLA-B, HLA-DQA1, HLA-DQB1 | HLA-DRB1*15:01, *03:01, *13:03, *08:01; HLA-A*02:01, rs9277565 (HLA-DPB1); HLA-B*44:02, *38:01, *55:01; rs2229029 (LTA) | European | [73] |
AA amino acid