Candidate SNPs
| Gene . | SNP . | Chromosome . | Alleles* . | MAF† . | Reported OR (95% CI) for systemic sclerosis‡ . |
|---|---|---|---|---|---|
| BANK1 | rs3733197 | 4 | A/G | 0.36 | 0.73 (0.61-0.87) |
| BANK1 | rs10516487 | 4 | T/C | 0.30 | 0.77 (0.64-0.93) |
| BLK | rs2736340 | 8 | T/C | 0.29 | 1.18 (1.00-1.40) |
| CD247 | rs2056626 | 1 | G/T | 0.41 | 0.82 (0.76-0.88) |
| HLA-DRA | rs3129882 | 6 | G/A | 0.42 | 2.17 (1.88-2.50) |
| HLA-DQB1 | rs9275390 | 6 | C/T | 0.27 | 2.38 (2.13-2.67) |
| HLA-DPA1 | rs987870 | 6 | C/T | 0.15 | 2.09 (1.78-2.45) |
| IL12RB2 | rs3790567 | 1 | A/G | 0.28 | 1.17 (1.11-1.24) |
| PTPN22 | rs2476601 | 1 | T/C | 0.08 | 1.38 (1.10-1.80) |
| STAT4 | rs7574865 | 2 | T/G | 0.24 | 1.54 (1.36-1.74) |
| TNFSF4 | rs2205960 | 1 | T/G | 0.22 | 1.37 (1.12-1.66) |
| TNIP1 | rs2233287 | 5 | A/G | 0.08 | 1.31 (1.15-1.43) |
| TNPO3-IRF5 | rs10488631 | 7 | C/T | 0.13 | 1.50 (1.35-1.67) |
| Gene . | SNP . | Chromosome . | Alleles* . | MAF† . | Reported OR (95% CI) for systemic sclerosis‡ . |
|---|---|---|---|---|---|
| BANK1 | rs3733197 | 4 | A/G | 0.36 | 0.73 (0.61-0.87) |
| BANK1 | rs10516487 | 4 | T/C | 0.30 | 0.77 (0.64-0.93) |
| BLK | rs2736340 | 8 | T/C | 0.29 | 1.18 (1.00-1.40) |
| CD247 | rs2056626 | 1 | G/T | 0.41 | 0.82 (0.76-0.88) |
| HLA-DRA | rs3129882 | 6 | G/A | 0.42 | 2.17 (1.88-2.50) |
| HLA-DQB1 | rs9275390 | 6 | C/T | 0.27 | 2.38 (2.13-2.67) |
| HLA-DPA1 | rs987870 | 6 | C/T | 0.15 | 2.09 (1.78-2.45) |
| IL12RB2 | rs3790567 | 1 | A/G | 0.28 | 1.17 (1.11-1.24) |
| PTPN22 | rs2476601 | 1 | T/C | 0.08 | 1.38 (1.10-1.80) |
| STAT4 | rs7574865 | 2 | T/G | 0.24 | 1.54 (1.36-1.74) |
| TNFSF4 | rs2205960 | 1 | T/G | 0.22 | 1.37 (1.12-1.66) |
| TNIP1 | rs2233287 | 5 | A/G | 0.08 | 1.31 (1.15-1.43) |
| TNPO3-IRF5 | rs10488631 | 7 | C/T | 0.13 | 1.50 (1.35-1.67) |
The first allele is designated as the minor allele and the second allele is designated as the major allele.
Data represent results from the combined cohort of recipients and donors who had genotyping in this study. MAFs were similar between donors and recipients, and are consistent with results from studies of patients with systemic sclerosis.11-19
All ORs were derived from allelic genetic models.