Table 1.
The GWAS in primary systemic vasculitides.
| Disease | Number of GWAS performed | Reference | The country of origin | Number of patientsa | Genes found | Implications in treatment |
|---|---|---|---|---|---|---|
| IgAV/HSP | 1 | (2) | Spain | 285 | HLA-DRB1 (potential relevance; not genome-wide significance) | – |
| KD | 14 | (3–16) | Taiwan, Korea, and Japan | 262–1,182 | BCL2L11, KCNN2, TIAM1, NEBL, TUBA3C, PELI1, PLCB4/PLCB1 CRP, HLA, CD40, BLK, FCGR2A, NMNAT2, HCP5, COPB2, ERAP1, NAALADL2, ZFHX3, NFKBIL1, LTA, DAB1, IGHV | SLC8A1 (Ca signaling pathway): use of calcineurin inhibitors in KD |
| AAV | 3 | (21–23) | European countries and UK | 492–1,986 | HLA-DQ, HLA-DP, SERPINA1, PTPN22, PRTN3, SEMA6A | – |
| TA | 3 | (24–26) | Turkey, North America, and Japan | 379–693 | HLA-B/MICA, HLA-DQB1/HLA-DRB1, FCGR2A/FCGR3A, IL12B, IL6, RPS9/LILRB3 | IL6: use of anti-IL-6 drugs |
| IL12B: use of therapies targeting IL-12/IL-23 | ||||||
| BD | 9 | (27–35) | Turkey, UK, China, Korea, Japan, Thailand Iran, Afghanistan, Lebanon, Cape Verde, Curacao, Dominican Republic, Greece, Israel, Jordan, Morocco, and Surinam | 152–3,645 | HLA class I (especially HLA-B51), IL10, IL23R-IL12RB2, ERAP1, STAT4, GIMAP, CCR1, KLRC4, FUT2, IL12A, NAALADL2, YIPF7, KIAA1529, CPVL, UBAC2, LOC100129342, UBASH3B | IL12A, IL23R-IL12RB2: use of therapies targeting IL-12/IL-23 |
AAV, ANCA-associated vasculitis; BD, Behçet’s disease; GWAS, genome-wide association studies; IgAV/HSP, immunoglobulin A vasculitis/Henoch–Schönlein purpura; KD, Kawasaki disease; TA, Takayasu arteritis; IL, interleukin; CRP, C-reactive protein.
aThe minimum and maximum number of patients were shown when there are more than one GWAS.