Table 1. Genotype and minor allele frequencies of UBASH3a SNPs located in Caucasian SLE patients and healthy controls from Spain, the discovery cohort.
| Genotype, N (%) | Alleles, N(%) | Allele test | |||||||
| SNP | 1/2 | Subgroup (N) | 1/1 | 1/2 | 2/2 | 1 | 2 | P -value * | OR [CI 95%]**** |
| rs2277798 | G/A | Controls (n = 1165) | 477 (40.94) | 529 (45.41) | 159 (13.65) | 1483 (63.6) | 847 (36.4) | ||
| SLE (n = 906) | 402 (44.37) | 394 (43.49) | 110 (12.14) | 1198 (66.1) | 614 (33.9) | 0.0993** | 0.90 [0.79-1.02] | ||
| rs2277800 | C/T | Controls (n = 1165) | 1080 (92.70) | 84 (7.21) | 1 (0.09) | 2244 (96.3) | 86 (3.7) | ||
| SLE (n = 906) | 832 (91.83) | 73 (8.06) | 1 (0.11) | 1737 (95.9) | 75 (4.1) | 0.4592 | 1.13 [0.82–1.55] | ||
| rs9976767 | A/G | Controls (n = 1165) | 363 (31.16) | 558 (47.90) | 244 (20.94) | 1284 (55.1) | 1046 (44.9) | ||
| SLE (n = 906) | 230 (25.39) | 451 (49.78) | 225 (24.83) | 911 (503) | 901 (49.7) | 1.99E-03*** | 1.21 [1.07–1.37] | ||
| rs13048049 | G/A | Controls (n = 1165) | 1038 (89.10) | 126 (10.82) | 1 (0.09) | 2202 (94.5) | 128 (5.5) | ||
| SLE (n = 906) | 808 (89.18) | 96 (10.60) | 2 (0.22) | 1712 (94.5) | 100 (5.5) | 0.9719 | 1.01 [0.77–1.32] | ||
| rs17114930 | C/G | Controls (n = 1165) | 1066 (91.50) | 95 (8.15) | 4 (0.34) | 2227 (95.6) | 103 (4.4) | ||
| SLE (n = 906) | 811 (89.51) | 93 (10.26) | 2 (0.22) | 1715 (94.6) | 97 (5.4) | 0.1649 | 1.22 [0.92–1.63] | ||
*
All P-values have been calculated for the allelic model. ** Pc = 0.248 Benjamini & Hochberg (1995). ***Pc = 9.9E-03 Benjamini & Hochberg (1995) step-up FDR control. ****Odds ratio for the minor allele.