- Supplemental genotype and allele frequencies of cytokine gene polymorphisms in patients with primary Sjögren syndrome (pSS) versus controls
| Gene | Variant | Genotype/allele | Patients with pSSn (%) | Control group n (%) | OR (95% CI) | X2 | P-value |
|---|---|---|---|---|---|---|---|
| Interleukin-1 beta (IL-1β) | rs16944 | Genotype frequency (pSS=33; HC=60) | |||||
| AA | 5 (15.2) | 13 (21.7) | Reference | ||||
| AG | 12 (36.4) | 19 (31.7) | 0.609 (0.173–2.146) | 0.596 | 0.440 | ||
| GG | 16 (48.5) | 28 (46.7) | 0.673 (0.203–2.236) | 0.418 | 0.518 | ||
| Allele frequency | |||||||
| A | 22 (33.33) | 45 (37.5) | Reference | ||||
| G | 44 (66.7) | 75 (62.5) | 0.833 (0.443–1.567) | 0.320 | 0.571 | ||
| rs1143627 | Genotype frequency (pSS=33; HC=55) | ||||||
| CC | 12 (36.4) | 9 (16.4) | Reference | ||||
| CT | 7 (21.2) | 29 (52.7) | 5.524 (1.672–18.250) | 7.856 | 0.005* | ||
| TT | 14 (42.4) | 17 (30.9) | 1.619 (0.530–4.946) | 0.715 | 0.398 | ||
| Allele frequency | |||||||
| C | 31 (47.0) | 47 (42.7) | Reference | ||||
| T | 35 (53.0) | 63 (57.3) | 1.187 (0.643–2.193) | 0.301 | 0.583 | ||
| Interferon regulatory factor 5(IRF5) | rs10488631 | Genotype frequency (pSS=32; HC=57) | |||||
| TT | 18 (56.3) | 44 (77.2) | Reference | ||||
| TC | 5 (15.6) | 13 (22.8) | 1.064 (0.331–3.421) | 0.011 | 0.918 | ||
| CC | 9 (28.1) | 0 (0.0) | - | - | - | ||
| Allele frequency | |||||||
| T | 41 (64.1) | 101 (88.6) | Reference | ||||
| C | 23 (35.9) | 13 (11.4) | 0.229 (0.106–0.496) | 14.009 | <0.001* | ||
| Monocyte chemoattractant protein 1 (MCP-1) | rs1024611 | Genotype frequency (pSS=29; HC=65) | |||||
| AA | 19 (65.5) | 35 (53.9) | Reference | ||||
| AG | 8 (27.6) | 16 (24.6) | 1.086 (0.393–2.999) | 0.025 | 0.874 | ||
| GG | 2 (6.9) | 14 (21.5) | 3.800 (0.780–18.511) | 2.731 | 0.098 | ||
| Allele frequency | |||||||
| A | 46 (79.3) | 86 (66.3) | Reference | ||||
| G | 12 (20.7) | 44 (33.9) | 1.961 (0.943–4.077) | 3.254 | 0.071 | ||
| B-cell activating factor (BAFF) | rs12583006 | Genotype frequency (pSS=35; HC=64) | |||||
| TT | 14 (40.0) | 37 (57.8) | Reference | ||||
| TA | 14 (40.0) | 21 (32.8) | 0.568 (0.228–1.416) | 1.475 | 0.225 | ||
| AA | 7 (20.0) | 6 (9.4) | 0.324 (0.093–1.134) | 3.108 | 0.078 | ||
| Allele frequency | |||||||
| T | 42 (60.0) | 95 (74.2) | Reference | ||||
| A | 28 (40.0) | 33 (25.8) | 0.521 (0.280–0.969) | 4.235 | 0.040* | ||
| Tumor necrosis factor Superfamily Member 4 (TNFSF4) | rs1234315 | Genotype frequency (pSS=32; HC=59) | |||||
| CC | 12 (37.5) | 13 (22.0) | Reference | ||||
| CT | 12 (37.5) | 24 (40.7) | 1.846 (0.648–5.259) | 1.318 | 0.251 | ||
| TT | 8 (25.0) | 22 (37.3) | 2.538 (0.822–7.836) | 2.624 | 0.105 | ||
| Allele frequency | |||||||
| C | 36 (56.3) | 50 (42.4) | Reference | ||||
| T | 28 (43.6) | 68 (57.6) | 1.749 (0.946–3.232) | 3.180 | 0.075 | ||
| Interleukin-2 – interleukin-21 gene region (IL-2 – IL-21) | rs6822844 | Genotype frequency (pSS=32; HC=58) | |||||
| GG | 28 (87.5) | 49 (84.5) | Reference | ||||
| GT | 3 (9.4) | 9 (15.5) | 1.653 (0.412–6.627) | 0.503 | 0.478 | ||
| TT | 1 (3.1) | 0 (0.0) | - | - | - | ||
| Allele frequency | |||||||
| G | 59 (92.2) | 107 (92.2) | Reference | ||||
| T | 5 (7.8) | 9 (7.8) | 0.993 (0.318–3.099) | 0.000 | 0.990 | ||
| Tumor necrosis factor-alpha (TNFα) | rs1800629 | Genotype frequency (pSS=26; HC=56) | |||||
| GG | 18 (69.2) | 41 (73.2) | Reference | ||||
| GA | 6 (23.1) | 8 (14.3) | 0.585 (0.177–1.933) | 0.772 | 0.380 | ||
| AA | 2 (7.7) | 7 (12.5) | 1.537 (0.290–8.133) | 0.255 | 0.613 | ||
| Allele frequency | |||||||
| G | 42 (80.8) | 90 (80.4) | Reference | ||||
| A | 10 (19.2) | 22 (19.6) | 1.027 (0.447–2.360) | 0.004 | 0.951 | ||
| Signal transducer and activator of transcription 4 (STAT4) | rs7574865 | Genotype frequency (pSS = 26; HC = 59) | |||||
| TT | 1 (3.9) | 8 (13.6) | Reference | ||||
| TG | 10 (38.5) | 21 (35.6) | 0.263 (0.029–2.395) | 1.406 | 0.236 | ||
| GG | 15 (57.7) | 30 (50.9) | 0.250 (0.029–2.188) | 1.569 | 0.210 | ||
| Allele frequency | |||||||
| T | 12 (23.1) | 37 (31.4) | Reference | ||||
| G | 40 (76.9) | 81 (68.8) | 0.657 (0.309–1.395) | 1.197 | 0.274 | ||
CI: confidence interval, OR: odd ratio, HC: healthy control
↵* p<0.05,