Table 1.
Genotype, allele, and haplotype frequencies of CD40 SNPs (−1 C > T and 6,048 G > T) in CS and SLE patients
| SNP | CS n = 294 (%) | SLE n = 293 (%) | p value | OR (CI 95%) | p value |
|---|---|---|---|---|---|
| −1 C > T (rs1883832) | |||||
| CC | 193 (65.5) | 169 (57.7) | .027 | 1 | — |
| CT | 95 (32.3) | 107 (36.5) | 1.286 [0.911–1.816] | .152 | |
| TT | 6 (2) | 17 (5.8) | 3.236 [1.247–8.397] | .016 | |
| Allele | |||||
| C | 481 (81.8) | 445 (75.9) | .014 | 1 | — |
| T | 107 (18.2) | 141 (24.1) | 1.424 [1.074–1.889] | .014 | |
| Dominant | |||||
| CC | 193 (65.6) | 169 (57.7) | .047 | 1 | — |
| CT + TT | 101 (34.4) | 124 (42.3) | 1.402 [1.004–1.958] | .047 | |
| 6,048 G > T (rs4810485) | |||||
| GG | 192 (65.3) | 162 (55.3) | .03 | 1 | — |
| GT | 94 (32) | 116 (39.6) | 1.463 [1.038–2.061] | .029 | |
| TT | 8 (2.7) | 15 (5.1) | 2.222 [0.918–5.376] | .085 | |
| Allele | |||||
| G | 478 (81.3) | 440 (75.1) | .010 | 1 | — |
| T | 110 (18.7) | 146 (24.9) | 1.442 [1.090–1.907] | .010 | |
| Dominant | |||||
| GG | 192 (65.3) | 162 (553) | .013 | 1 | — |
| GT + TT | 102 (34.7) | 131 (44.7) | 1.522 [1.091–2.123] | .013 | |
| Haplotype* | 2n = 588 (%) | 2n = 586 (%) | |||
| C G | 475 (80.7) | 435 (74.2) | ‐ | 1 | — |
| T T | 104 (17.7) | 136 (23.2) | 1.428 [1.072–1.902] | .014 | |
Abbreviations: CI, Confidence interval; CS, control subjects; OR, odds ratio; SLE, systemic lupus erythematosus; SNP, single nucleotide polymorphism.
*
Haplotype analysis included the −1 C > T (rs1883832) and 6048G > T (rs4810485) polymorphisms of CD40 gene and all those with a frequency <0.03 were ignored in the analysis.