Table 3.
Best fit model for distribution of the TBX21 SNP rs11650354 genotype in North American white control subjects and patients with SSc*
| SSc Registry cohort |
UT Division cohort |
Combined cohorts |
SSc Registry and UT Division cohorts + iControlDB and CGEMS controls† |
|||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | TT, % |
CC/CT, % |
P | OR (95% CI) | n | TT, % |
CC/CT, % |
P | OR (95% CI) | n | P | OR (95% CI) | n | P | OR (95% CI) | |
| Control | 252 | 2.4 | 97.6 | 227 | 1.3 | 98.7 | 479 | 4,745 | ||||||||
| SSc patients | 596 | 8.6 | 91.4 | 0.003 | 3.84 (1.6–10.1) | 306 | 5.6 | 94.4 | 0.03 | 4.39 (1.2–19.1) | 902 | 3.9 × 10−5 | 4.26 (2.0–9.2) | 902 | 1.4 × 10−15 | 3.37 (2.4–4.6) |
| Limited cutaneous SSc | 364 | 9.1 | 90.9 | 0.002 | 4.09 (1.6–11.0) | 147 | 4.8 | 95.2 | 0.12 | 3.73 (0.8–18.5) | 511 | 4.8 × 10−5 | 4.44 (2.0–9.9) | 511 | 7.2 × 10−12 | 3.51 (2.4–5.1) |
| Diffuse cutaneous SSc | 189 | 9 | 91 | 0.006 | 4.05 (1.5–11.8) | 138 | 7.2 | 92.8 | 0.009 | 5.83 (1.4–27.2) | 327 | 5.1 × 10−5 | 4.70 (2.1–10.9) | 327 | 8.1 × 10−10 | 3.70 (2.3–5.8) |
| Antibodies | ||||||||||||||||
| Anticentromere | 178 | 10.7 | 89.3 | 0.0009 | 4.92 (1.8–14.0) | 88 | 4.5 | 95.5 | 0.24 | 3.56 (0.7–20.4) | 266 | 3.9 × 10−5 | 4.94 (2.1–11.7) | 266 | 2.2 × 10−9 | 3.92 (2.4–6.3) |
| Anti–topoisomerase I | 102 | 7.8 | 92.2 | 0.05 | 3.49 (1.1–11.7) | 34 | 5.9 | 94.1 | 0.21 | 4.67 (0.5–36.2) | 136 | 0.003 | 4.14 (1.5–11.4) | 136 | 0.0006 | 3.27 (1.6–6.6) |
| Anti-RNA polymerase III | 132 | 10.6 | 89.4 | 0.001 | 4.86 (1.7–14.6) | 34 | 5.9 | 94.1 | 0.21 | 4.67 (0.5–36.2) | 166 | 2.4 × 10−4 | 5.57 (2.2–14.0) | 166 | 2.2 × 10−8 | 4.41 (2.4–7.8) |
*
ORs and 95% CIs are for carriage of the TT genotype. Control subjects were used as reference for all comparisons. P values were corrected for multiple model testing using the Bonferroni adjustment. See Table 2 for other definitions.
†
The Illumina iControlDB database was queried to ascertain the SNP genotype frequencies in 3,172 white controls (CC 2,232 [70.4%], CT 863 [27.2%], TT 77 [2.4%]). The Cancer Genetic Markers of Susceptibility (CGEMS) database was queried to ascertain the SNP genotype frequencies in 1,094 white controls (CC 752 [68.7%], CT 316 [28.9%], TT 26 [2.4%]).