Table 3.
Summary of genetic associations with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis excluding those derived from genome-wide association studies.
| Gene | Variation | Disease | Populations |
|---|---|---|---|
| HLA | DQA1*0302, DQB1*0303, DPB1*04:01, DRB1*0901, DRB1*1101, DRB1*13:02, HLA–DPA1, HLA–DQA2 | AAV (GPA, MPA, EGPA) |
Worldwide |
| RING | rs213210, rs213209, and rs213208 | GPA | German |
| RXRB | rs6531 | GPA | German |
| CD226 | rs763361 | GPA | German |
| CTLA4 | rs3087243, CT60 |
GPA, MPA and EGPA | British, Swedish |
| DEFB4 | High CNVs | AAV | Chinese |
| DSP | rs2076295G | MPA | Japanese |
| ETS1 | rs1128334 | GPA | Japanese |
| FCGR3B | Low CNVs, High CNVs |
AAV | French, British, Chinese |
| IL10 | IL10 -3575/-1082/-592 TAC haplotype | EGPA( ANCA- ) | German |
| IL2RA | rs41295061 | AAV | British |
| MUC5B | rs35705950 | AAV-ILD | Japanese |
| PTPN22 | rs2476601, C1858T |
GPA, MPA | German, Italian, British |
| TLR-9 | rs352162, rs352140, rs352139 CTC, TCT |
GPA, MPA, EGPA | German, British, Dutch |
| TERT | rs2736100A | MPA | Japanese |