Table 2.
Genotypes/Alleles Frequencies and Association of Selected Single Nucleotide Polymorphisms with Systemic Sclerosis Under Logistic Regression Analysis in the Greek-Cypriot Population (Patients with Systemic Sclerosis Versus Healthy Controls)
| SNP | Genotypes frequency, n (%) | Alleles frequency, n (%) | OR (95% CI)a | pa,b | |||
|---|---|---|---|---|---|---|---|
| rs4898c | T/T | T/C | C/C | T | C | 1.06 (0.65–1.74) | 0.82 |
| Controls (144) | 58 (40.28) | 59 (40.97) | 27 (18.75) | 175 (60.76) | 113 (39.24) | ||
| Cases (36) | 13 (36.11) | 17 (47.22) | 6 (16.67) | 43 (59.72) | 29 (40.28) | ||
| rs344781 | A/A | A/G | G/G | A | G | 0.97 (0.54–1.73) | 0.91 |
| Controls (164) | 93 (56.71) | 61 (37.20) | 10 (6.10) | 247 (75.30) | 81 (24.70) | ||
| Cases (41) | 21 (51.22) | 20 (48.78) | 0 (0.00) | 62 (75.61) | 20 (24.39) | ||
| rs1126579 | C/C | C/T | T/T | C | T | 1.07 (0.66–1.75) | 0.78 |
| Controls (164) | 66 (40.24) | 74 (45.12) | 24 (14.63) | 206 (62.80) | 122 (37.20) | ||
| Cases (41) | 16 (39.02) | 18 (43.90) | 7 (17.07) | 50 (60.98) | 32 (39.02) | ||
| rs1341239 | G/G | G/T | T/T | G | T | 1.01 (0.59–1.71) | 0.98 |
| Controls (164) | 67 (40.85) | 79 (48.17) | 18 (10.98) | 213 (64.94) | 115 (35.06) | ||
| Cases (41) | 15 (36.59) | 23 (56.10) | 3 (7.32) | 53 (64.63) | 29 (35.37) | ||
| rs1799724 | C/C | C/T | T/T | C | T | 1.22 (0.68–2.17) | 0.51 |
| Controls (164) | 110 (67.07) | 48 (29.27) | 6 (3.66) | 268 (81.71) | 60 (18.29) | ||
| Cases (41) | 26 (63.41) | 12 (29.27) | 3 (7.32) | 64 (78.05) | 18 (21.95) | ||
| rs1799964 | T/T | T/C | C/C | T | C | 0.94 (0.50–1.76) | 0.84 |
| Controls (164) | 98 (59.76) | 60 (36.59) | 6 (3.66) | 256 (78.05) | 72 (21.95) | ||
| Cases (41) | 24 (58.54) | 17 (41.46) | 0 (0.00) | 65 (79.27) | 17 (20.73) | ||
| rs1800890 | T/T | T/A | A/A | T | A | 0.82 (0.44–1.49) | 0.51 |
| Controls (164) | 90 (54.88) | 66 (40.24) | 8 (4.88) | 246 (75.00) | 82 (25.00) | ||
| Cases (41) | 24 (58.54) | 16 (39.02) | 1 (2.44) | 64 (78.05) | 18 (21.95) | ||
| rs1800896 | A/A | A/G | G/G | A | G | 1.25 (0.77–2.03) | 0.35 |
| Controls (164) | 62 (37.80) | 79 (48.17) | 23 (14.02) | 203 (61.89) | 125 (38.11) | ||
| Cases (41) | 16 (39.02) | 14 (34.15) | 11 (26.83) | 46 (56.10) | 36 (43.90) | ||
| rs2430561 | T/T | A/T | A/A | T | A | 1.00 (0.59–1.69) | 1 |
| Controls (164) | 37 (22.56) | 92 (56.10) | 35 (21.34) | 166 (50.61) | 162 (49.39) | ||
| Cases (41) | 7 (17.07) | 27 (65.85) | 7 (17.07) | 41 (50.00) | 41 (50.00) | ||
| rs3117230 | A/A | A/G | G/G | A | G | 2.27 (1.30–3.98) | 0.004 |
| Controls (164) | 123 (75.00) | 37 (22.56) | 4 (2.44) | 283 (86.28) | 45 (13.72) | ||
| Cases (41) | 23 (56.10) | 13 (31.71) | 5 (12.20) | 59 (71.95) | 23 (28.05) | ||
| rs3128930 | G/G | G/A | A/A | G | A | 2.08 (1.23–3.53) | 0.006 |
| Controls (164) | 118 (71.95) | 39 (23.78) | 7 (4.27) | 275 (83.84) | 53 (16.16) | ||
| Cases (41) | 21 (51.22) | 15 (36.59) | 5 (12.20) | 57 (69.51) | 25 (30.49) | ||
| rs3128965 | G/G | G/A | A/A | G | A | 1.97 (1.10–3.54) | 0.02 |
| Controls (164) | 123 (75.00) | 37 (22.56) | 4 (2.44) | 283 (86.28) | 45 (13.72) | ||
| Cases (41) | 24 (58.54) | 14 (34.15) | 3 (7.32) | 62 (75.61) | 20 (24.39) | ||
| rs6918698 | G/G | G/C | C/C | G | C | 0.88 (0.55–1.41) | 0.59 |
| Controls (164) | 48 (29.27) | 79 (48.17) | 37 (22.56) | 175 (53.35) | 153 (46.65) | ||
| Cases (41) | 15 (36.59) | 17 (41.46) | 9 (21.95) | 47 (57.32) | 35 (42.68) | ||
| rs7574865 | G/G | G/T | T/T | G | T | 1.35 (0.79–2.33) | 0.27 |
| Controls (164) | 76 (46.34) | 70 (42.68) | 18 (10.98) | 222 (67.68) | 106 (32.32) | ||
| Cases (41) | 20 (48.78) | 20 (48.78) | 1 (2.44) | 60 (73.17) | 22 (26.83) | ||
| rs9399005 | C/C | C/T | T/T | C | T | 0.76 (0.43–1.35) | 0.35 |
| Controls (164) | 87 (53.05) | 64 (39.02) | 13 (7.93) | 238 (72.56) | 90 (27.44) | ||
| Cases (41) | 25 (60.98) | 14 (34.15) | 2 (4.88) | 64 (78.05) | 18 (21.95) | ||
| rs12528892 | C/C | C/T | T/T | C | T | 0.80 (0.09–7.08) | 0.84 |
| Controls (164) | 159 (96.95) | 5 (3.05) | 0 (0.00) | 323 (98.48) | 5 (1.52) | ||
| Cases (41) | 40 (97.56) | 1 (2.44) | 0 (0.00) | 81 (98.78) | 1 (1.22) | ||
| rs131654 | T/T | T/G | G/G | T | G | 1.71 (0.99–2.96) | 0.05 |
| Controls (164) | 93 (56.71) | 63 (38.41) | 8 (4.88) | 249 (75.91) | 79 (24.09) | ||
| Cases (41) | 17 (41.46) | 20 (48.78) | 4 (9.76) | 54 (65.85) | 28 (34.15) | ||
| rs2298428 | C/C | C/T | T/T | C | T | — | — |
| Controls (164) | 104 (63.41) | 32 (19.51) | 28 (17.07) | 240 (73.17) | 88 (26.83) | ||
| Cases (41) | 30 (73.17) | 7 (17.07) | 4 (9.76) | 67 (81.71) | 15 (18.29) | ||
Bold in the last column indicates significant p-values.
a
OR (CI 95%) and p value were calculated based on log-additive model (alleles).
b
Nominal significance threshold = 0.05; Bonferroni corrected significance threshold = 0.003.
c
Calculations for this SNP were performed using only the female patient genotypes since it is located on the X-chromosome.
CI, confidence intervals; OR, odds ratio; SNP, single nucleotide polymorphism.