Genotypes and allele frequencies of the CD40 rs4810485 polymorphism analysed in 351 patients with SLE and 670 controls from Greece and 158 patients with SLE and 155 controls from Turkey
| rs4810485 | |||||
|---|---|---|---|---|---|
| Genotype | Allele | ||||
| GG | GT | TT | G | T | |
| Greek cohort, N (%) | |||||
| Patients with SLE (n=351) | 139 (39.6) | 190 (54.1) | 22 (6.3) | 468 (66.7) | 234 (33.3) |
| Healthy controls (n=670) | 216 (32.2) | 326 (48.7) | 128 (19.1) | 758 (56.6) | 582 (43.4) |
| *OR (95% CI) | 1.00 | 0.91 (0.69 to 1.20) | 0.27 (0.16 to 0.44) | 1.00 | 0.65 (0.54 to 0.79) |
| *p Value (df 1) | – | 5.0 × 10−1 | 7.0 ×10−8 | – | 9.6 ×10−6 |
| †p Value (df 2) | 2.1 × 10−7 | ||||
| Turkish cohort, N (%) | |||||
| Patients with SLE (n=158) | 69 (43.7) | 82 (51.9) | 7 (4.4) | 220 (69.6) | 96 (30.4) |
| Healthy controls (n=155) | 52 (33.5) | 72 (46.5) | 31 (20.0) | 176 (56.8) | 134 (43.2) |
| *OR (95% CI) | 1.00 | 0.86 (0.53 to 1.39) | 0.17 (0.07 to 0.42) | 1.00 | 0.57 (0.41 to 0.80) |
| *p Value (df 1) | – | 5.0 × 10−1 | 3.2 ×10−5 | – | 9.0 × 10−4 |
| †p Value (df 2) | 1.0 x 10−4 | ||||
| Combined cohort, N (%) | |||||
| Patients with SLE (n=509) | 208 (40.9) | 272 (53.4) | 29 (5.7) | 688 (67.6) | 330 (32.4) |
| Healthy controls (n=825) | 268 (32.5) | 398 (48.2) | 159 (19.3) | 934 (56.6) | 716 (43.4) |
| *OR (95% CI) | 1.00 | 0.88 (0.69 to 1.12) | 0.24 (0.15 to 0.36) | 1.00 | 0.63 (0.53 to 0.74) |
| *p Value (df 1) | – | 3.0 × 10−1 | 7.4 × 10−12 | – | 2.0 × 10−8 |
| †p Value (df 2) | 2.2 ×10−11 | ||||
A meta-analysis of the two cohorts is also presented. Reduced frequency of the rs4810485 minor allele T and the T/T genotype in patients with SLE compared with healthy controls.
↵* p Values with df 1 and OR (95%CI) were calculated taking as reference the G/G genotype or the major (G) allele.
↵† p Values with df 2 were calculated with a 2×3 χ2 test of independence and account for the overall difference between the three genotypes.
df, degrees of freedom; SLE, systemic lupus erythematosus.