Genotype distribution and allele frequency of the MMP-12 rs2276109 A/G single-nucleotide polymorphism in controls, patients with SSc, and SSc clinical subsets. Values are the number (%) of subjects with a given genotype and the frequency of the rs2276109 A allele in patients and controls.
| Subjects | AA | AG | GG | A Allele Frequency |
|---|---|---|---|---|
| Controls, n = 263 | 171 (65.0) | 85 (32.3) | 7 (2.7) | 0.81 |
| SSc, n = 250 | 202 (80.8) | 43 (17.2) | 5 (2.0)* | 0.89 ** |
| lcSSc, n = 146 | 108 (74.0) | 35 (24.0) | 3 (2.0) | 0.86 |
| dcSSc, n = 104 | 94 (90.4) | 8 (7.7) | 2 (1.9)§ | 0.94§§ |
| Anti-topo I-positive SSc, n = 77 | 73 (94.8) | 3 (3.9) | 1 (1.3) | 0.97# |
| Anti-topo I-negative SSc, n = 173 | 129 (74.6) | 40 (23.1) | 4 (2.3) | 0.86 |
| ACA-positive SSc, n = 91 | 64 (70.3) | 25 (27.5) | 2 (2.2) | 0.84 |
| ACA-negative SSc, n = 159 | 138 (86.8) | 18 (11.3) | 3 (1.9) | 0.92 |
| SSc-ILD, n = 74 | 67 (90.5) | 5 (6.8) | 2 (2.7) | 0.94† |
| SSc-non-ILD, n = 176 | 135 (76.7) | 38 (21.6) | 3 (1.7) | 0.87 |
| SSc-PAH, n = 35 | 31 (88.6) | 4 (11.4) | 0 (0.0) | 0.94†† |
| SSc-non-PAH, n = 215 | 171 (79.5) | 39 (18.2) | 5 (2.3) | 0.89 |
P values calculated by chi-squared analysis.
↵* p = 0.0003,
↵** p = 0.0002 for comparison with controls.
↵§ p < 0.0001 for comparison with controls and 0.003 with lcSSc;
↵§§ p < 0.0001 for comparison with controls and 0.003 with lcSSc;
↵# p < 0.0001 for comparison with controls and 0.0004 with anti-topo I-negative SSc;
↵† p < 0.0001 for comparison with controls and 0.03 with SSc-non-ILD;
↵†† p = 0.1 for comparison with SSc-non-PAH. ACA: anticentromere antibodies; anti-topo I: antitopoisomerase I antibodies; dcSSc: diffuse cutaneous SSc; ILD: interstitial lung disease; lcSSc: limited cutaneous SSc; PAH: pulmonary arterial hypertension.