Table 1.
CARD9 associations in axial spondyloarthritis.
| Reference | CARD9 SNP | Main findings |
|---|---|---|
| [20] | rs10781499 | Increased comorbidity rates due to pleiotropy not heterogeneity (axSpA, Crohn’s disease, Ps, primary sclerosing cholangitis, and ulcerative colitis). |
| [10] | rs4077515 and rs3812571 (tagged), rs11794847, rs10781505, rs10781499, rs3812570, rs3812571, rs10870149 | Association between axSpA and IBD with CARD9; cis-acting effects on CARD9. |
| [21] | rs10781500 | CARD9 strongly associated with disease pathogenesis, may point to mechanism for HLA-B27; supports β-glucan induced disease (IL-23-IL23R-IL-17 pathway). |
| [22] | rs11145763 | Pediatric-age-of-onset autoimmune diseases. |
| [23] | rs1128905 | CARD9 SNP located at exon-intron boundaries, predicted to influence splicing. |
| [24] | rs4077515, rs3812571 | Chinese Han population shows minimal association between these CARD9 variants in axSpA, in contrast to European populations. Highlights importance of racial diversity in association studies. |
| [25] | rs4077515 | Iranian population: CARD9 associated with axSpA in HLA-B27-positive patients, but protective in HLA-B27-negative patients. |