Table 3.
Genotypic and Allelic Distribution of the rs13277113 variant in North American and Spanish SSc patients and healthy controls*
| NORTH AMERICAN | SPANISH | MH COMBINED | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| N (%) | N (%) | |||||||||
| AA | AG | GG | p-value | AA | AG | GG | p-value | p-value | OR (95% CI) | |
| Control subjects | 46 (6.6) | 248 (35.8) | 398 (57.5) | 50 (7.1) | 248 (35.3) | 404 (57.5) | ||||
| Patients with | 107 (10.3) | 413 (39.7) | 521 (50) | 2.3×10−3 | 38 (6.5) | 226 (38.6) | 322 (54.9) | 0.48 | 2.5×10−3 | 1.25 (1.1–1.4) |
| Limited SSc | 58 (9.7) | 252 (41.9) | 291 (48.4) | 2.9×10−3 | 23 (7.1) | 120 (37.3) | 179 (55.6) | 0.83 | 3.4×10−3 | 1.28 (1.1–1.5) |
| Diffuse SSc | 44 (11.4) | 141 (36.6) | 200 (51.9) | 1.7×10−2 | 7 (4.7) | 61 (40.9) | 81 (54.4) | 0.31 | 3.0×10−2 | 1.25 (1.0–1.5) |
| Antibodies | ||||||||||
| ACA | 31 (10.4) | 135 (45.5) | 131 (44.1) | 3.7×10−4 | 13 (6.1) | 87 (40.8) | 113 (53.1) | 0.33 | 6.5×10−4 | 1.42 (1.2–1.7) |
| ATA | 13 (7.6) | 61 (35.7) | 97 (56.7) | 0.91 | 4 (3.9) | 43 (41.7) | 56 (54.4) | 0.27 | 0.80 | 1.03 (0.8–1.3) |
| ARA | 24 (12.7) | 66 (34.9) | 99 (52.4) | 2.3×10−2 | - | - | - | - | - | - |
| A | G | p-value | OR (95% CI) | A | G | p-value | OR (95% CI) | p-value | OR (95% CI) | |
| Control subjects | 340 (24.6) | 1044 | 348 (24.8) | 1056 | ||||||
| Patients with | 627 (30.1) | 1455 | 3.6×10−4 | 1.32 (1.1–1.6) | 302 (25.8) | 870 (74.2) | 0.57 | 1.05 (0.9- | 2.0×10−3 | 1.20 (1.1–1.3) |
| Limited SSc | 368 (30.6) | 834 (69.4) | 5.8×10−4 | 1.35 (1.1–1.6) | 166 (25.8) | 478 (74.2) | 0.63 | 1.05 (0.8- | 2.9×10−3 | 1.23 (1.1–1.4) |
| Diffuse SSc | 229 (29.7) | 541 (70.3) | 9.1×10−3 | 1.30 (1.1–1.6) | 75 (25.2) | 223 (74.8) | 0.89 | 1.02 (0.8- | 2.6×10−2 | 1.20 (1.0–1.4) |
| Antibodies | ||||||||||
| ACA | 197 (33.2) | 397 (66.8) | 8.1×10−5 | 1.52 (1.2–1.9) | 113 (26.5) | 313 (73.5) | 0.47 | 1.10 (0.8- | 5.5×10−4 | 1.32 (1.1–1.5) |
| ATA | 87 (25.4) | 255 (74.6) | 0.74 | 1.05 (0.8–1.4) | 51 (24.8) | 155 (75.2) | 0.99 | 1.00 (0.7- | 0.8 | 1.03 (0.8–1.3) |
| ARA | 114 (30.2) | 264 (69.8) | 2.8×10−2 | 1.33 (1.02- | - | - | - | - | - | - |
*
The odds ratios and 95% confidence intervals (95% CI) are for the carriage of the minor genotype.
Control subjects are used as reference for all comparisons.
ACA= Anti- Centromere Antibody; ATA= Anti- Topoisomerase I Antibody; ARA= Anti- RNA Polymerase III Antibody