Research Article
NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis
Table 2
Clinical and laboratory parameters of SSc patients according to subtypes and genotypes.
| | SSc features | All SSc patients n = 124 | SSc subtypes | NOTCH3 | TP53 | | lcSSc n = 101 | dcSSc n = 23 | value | TT n = 97 | CT + CC n = 27 | value | RR n = 72 | PR + PP n = 52 | value |
| | Age in years, M | 56.7 | 58.96 | 48.26 | <0.001 | 56.62 | 58.22 | 0.52 | 56.80 | 56.7 | 0.96 | | Active disease, n (%) | 91 (73.4) | 73 (72.2) | 18 (78.3) | 0.56 | 74 (76.3) | 10 (37) | <0.001 | 18 (25) | 15 (28.8) | 0.63 | | Inactive disease, n (%) | 33 (26.6) | 28 (27.8) | 5 (21.7) | | 23 (23.7) | 17 (63) | | 54 (75) | 37 (71.2) | | | Disease duration in years, M | 8.75 | 11.12 | 11.98 | 0.59 | 11.06 | 12.05 | 0.51 | 11.42 | 10.81 | 0.63 | | Early lcSSc, M | — | 4.12 | — | — | 3.70 | 3.57 | 0.77 | 3.25 | 4.11 | 0.022 | | Late lcSSc, M | — | 13 | — | — | 13.78 | 14.10 | 0.84 | 14.92 | 12.18 | 0.056 | | Early dcSSc, M | — | — | 2.50 | — | 2.25 | — | — | 2.5 | — | — | | Late dcSSc, M | — | — | 14.55 | — | 14.87 | 13.0 | 0.51 | 14.64 | 14.25 | 0.88 |
| | Antinuclear antibodies, n (%) | | | | | | | | | | | | Anti-Scl-70 (anti-topoisomerase I) positivity | 66 (53.2) | 43 (42.5) | 23 (100) | <0.001 | 48 (49.5) | 18 (66.7) | 0.11 | 42 (58.4) | 24 (46.1) | 0.17 | | ACA positivity | 49 (39.6) | 49 (48.5) | 0 | <0.001 | 43 (44.3) | 6 (22.3) | 0.003 | 25 (34.7) | 24 (46.1) | 0.19 | | Anti-RNA polymerase III positivity | 2 (1.6) | 2 (2) | 0 | | 2 (2) | 0 | | 0 | 2 (3.8) | | | Other (anti-fibrillarin, ANA-speckled pattern) | 7 (5.6) | 7 (7) | 0 | | 4 (4.1) | 3 (11) | | 5 (6.9) | 2 (3.8) | | | Complement protein C3 level (g/L), M | 1.23 | 1.14 | 1.08 | 0.38 | 1.11 | 1.17 | 0.34 | 1.09 | 1.15 | 0.20 | | Complement protein C4 level (g/L), M | 0.24 | 0.23 | 0.23 | 0.87 | 0.24 | 0.22 | 0.55 | 0.22 | 0.25 | 0.24 | | C-reactive protein level (mg/L), M | 7.75 | 7.67 | 7.93 | 0.93 | 6.93 | 10.54 | 0.21 | 6.45 | 8.58 | 0.34 | | Erythrocyte sedimentation rate (mm/h), M | 24.0 | 22.55 | 28.30 | 0.15 | 22.49 | 27.66 | 0.17 | 22.21 | 25.36 | 0.33 | | Interstitial lung disease, n (%) | 98 (79) | 79 (78.2) | 19 (82.6) | | 76 (78.4) | 22 (81.5) | 0.73 | 55 (76.4) | 43 (82.7) | 0.39 | | Total lung capacity (TLC)—% of norm | 97 (15.5) | 89.2 | 84.35 | 0.31 | 87.47 | 90.26 | 0.40 | 88.94 | 86.62 | 0.55 | | TLC ≥ 80% | 89 | 76 | 13 | 0.07 | 69 | 20 | 0.76 | 51 | 38 | 0.77 | | TLC < 80% | 35 | 25 | 10 | | 28 | 7 | | 21 | 14 | |
|
|
M: mean. Too small group for analysis. |
