Interleukin-1β and Tumor Necrosis Factor-α Gene Polymorphisms in Systemic Sclerosis
, , , , , , , oraz
06 mar 2025
O artykule
Kategoria artykułu: ORIGINAL ARTICLE
Data publikacji: 06 mar 2025
Zakres stron: 59 - 68
DOI: https://doi.org/10.2478/bjmg-2024-0017
Słowa kluczowe
© 2024 Hakami M.A et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
IL-1β Cytokine Gene Polymorphism association with systemic sclerosis_
Cytokine polymorphism | SSc (n=23) | HC (n=80) | Odds Ratio | 95% CI | |||
---|---|---|---|---|---|---|---|
IL-1β -511 (rs16944) | Alleles | T | 33 (71.7) | 80 (50.0) | 2.538 | 1.245 - 5.177 | |
C | 13 (28.3) | 80 (50.0) | 0.394 | 0.193 - 0.803 | |||
Genotypes | TT | 14 (60.9) | 29 (36.3) | 0.054 | 2.736 | 1.054 - 7.098 | |
TC | 5 (21.7) | 22 (27.4) | 0.789 | 0.732 | 0.242 - 2.213 | ||
CC | 4 (17.4) | 29 (36.3) | 0.128 | 0.370 | 0.115 - 1.194 | ||
IL-1β +3962 (rs1143634) | Alleles | C | 28 (60.9) | 129 (80.6) | 0.374 | 0.184 - 0.760 | |
T | 18 (39.1) | 31 (19.4) | 2.675 | 1.315 - 5.442 | |||
Genotypes | CC | 11 (47.8) | 56 (70.0) | 0.081 | 0.393 | 0.152 - 1.013 | |
CT | 6 (26.1) | 17 (21.2) | 0.585 | 1.308 | 0.447 - 3.828 | ||
TT | 6 (26.1) | 7 (8.8) | 0.068 | 3.681 | 1.096 - 12.36 |
TNF-α Cytokine Gene Polymorphism association with systemic sclerosis_
Cytokine polymorphism | SSc (n=23) | HC (n=80) | Odds Ratio | 95% CI | |||
---|---|---|---|---|---|---|---|
TNF-α -308 (rs1800629) | Alleles | G | 42 (91.3) | 103 (64.4) | 5.811 | 1.982 - 17.032 | |
A | 4 (8.7) | 57 (35.6) | 0.172 | 0.059 - 0.504 | |||
Genotypes | GG | 19 (82.6) | 23 (28.8) | 11.772 | 3.61 - 38.384 | ||
GA | 4 (17.4) | 57 (71.2) | 0.085 | 0.026 - 0.277 | |||
AA | 0 (0.0) | 0 (0.0) | - | - | - | ||
TNF-α -238 (rs361525) | Alleles | G | 27 (58.7) | 137 (85.6) | 0.239 | 0.114 - 0.497 | |
A | 19 (41.3) | 23 (14.4) | 4.192 | 2.011 - 8.737 | |||
Genotypes | GG | 4 (17.4) | 57 (71.2) | 0.085 | 0.026 - 0.277 | ||
GA | 19 (82.6) | 23 (28.8) | 11.772 | 3.61 - 38.384 | |||
AA | 0 (0.0) | 0 (0.0) | - | - | - | ||
TNF-α -308, -238 | Haplotypes | GG | 23 (50.0) | 80 (50.0) | 1.000 | 1.000 | 0.519 - 1.927 |
AG | 4 (8.7) | 57 (35.6) | 0.172 | 0.059 - 0.504 | |||
GA | 19 (41.3) | 23 (14.4) | 4.192 | 2.011 - 8.737 |
Single nucleotide polymorphisms showing allele and genotype frequencies in patients with systemic sclerosis and healthy controls_
Cytokine polymorphism | SSc (n=23) | HC (n=80) | |||
---|---|---|---|---|---|
IL1β -511 (rs16944) | Alleles | T | 33 (71.7) | 80 (50.0) | |
C | 13 (28.3) | 80 (50.0) | |||
Genotypes | TT | 14 (60.9) | 29 (36.3) | 0.054 | |
TC | 5 (21.7) | 22 (27.4) | 0.789 | ||
CC | 4 (17.4) | 29 (36.3) | 0.128 | ||
IL1β +3962 (rs1143634) | Alleles | C | 28 (60.9) | 129 (80.6) | |
T | 18 (39.1) | 31 (19.4) | |||
Genotypes | CC | 11 (47.8) | 56 (70.0) | 0.081 | |
CT | 6 (26.1) | 17 (21.2) | 0.585 | ||
TT | 6 (26.1) | 7 (8.8) | 0.068 | ||
IL4Rα +1902 (rs1801275) | Alleles | G | 9 (19.6) | 23 (14.4) | 0.488 |
A | 37 (80.4) | 137 (85.6) | 0.488 | ||
Genotypes | GG | 2 (8.7) | 0 (0.0) | ||
GA | 5 (21.7) | 23 (28.8) | 0.602 | ||
AA | 16 (69.6) | 57 (71.2) | 1.000 | ||
IL12 -1188 (rs3212227) [deviation from HWE, therefore excluded] | Alleles | C | 16 (34.8) | 94 (58.8) | |
A | 30 (65.2) | 66 (41.2) | |||
Genotypes | CC | 0 (0.0) | 35 (43.8) | ||
CA | 16 (69.6) | 24 (30.0) | |||
AA | 7 (30.4) | 21 (26.2) | 0.791 | ||
TGFβ1 codon10 (rs1982073) | Alleles | C | 23 (50.0) | 81 (50.6) | 1.000 |
T | 23 (50.0) | 79 (49.4) | 1.000 | ||
Genotypes | CC | 0 (0.0) | 1 (1.2) | 1.000 | |
CT | 23 (100.0) | 79 (98.8) | 1.000 | ||
TT | 0 (0.0) | 0 (0.0) | - | ||
TGFβ1 codon25 (rs1800471) | Alleles | G | 35 (76.1) | 96 (60.0) | 0.056 |
C | 11 (23.9) | 64 (40.0) | 0.056 | ||
Genotypes | GG | 12 (52.2) | 16 (20.0) | ||
GC | 11 (47.8) | 64 (80.0) | |||
CC | 0 (0.0) | 0 (0.0) | - | ||
TGFβ1 codon10, codon25 | Haplotypes | CG | 12 (26.1) | 17 (10.6) | |
TG | 23 (50.0) | 79 (49.4) | 1.000 | ||
CC | 11 (23.9) | 64 (40.0) | 0.056 | ||
TNFα -308 (rs1800629) | Alleles | G | 42 (91.3) | 103 (64.4) | |
A | 4 (8.7) | 57 (35.6) | |||
Genotypes | GG | 19 (82.6) | 23 (28.8) | ||
GA | 4 (17.4) | 57 (71.2) | |||
AA | 0 (0.0) | 0 (0.0) | - | ||
TNFα -238 (rs361525) | Alleles | G | 27 (58.7) | 137 (85.6) | |
A | 19 (41.3) | 23 (14.4) | |||
Genotypes | GG | 4 (17.4) | 57 (71.2) | ||
GA | 19 (82.6) | 23 (28.8) | |||
AA | 0 (0.0) | 0 (0.0) | - | ||
TNFα -308, -238 | Haplotypes | GG | 23 (50.0) | 80 (50.0) | 1.000 |
AG | 4 (8.7) | 57 (35.6) | |||
GA | 19 (41.3) | 23 (14.4) | |||
IL4 -1098 (rs 2243248) | Alleles | T | 35 (76.1) | 138 (86.2) | 0.112 |
G | 11 (23.9) | 22 (13.8) | 0.112 | ||
Genotypes | TT | 14 (60.9) | 58 (72.5) | 0.309 | |
TG | 7 (30.4) | 22 (27.5) | 0.796 | ||
GG | 2 (8.7) | 0 (0.0) | |||
IL4 -590 (rs2243250) | Alleles | C | 38 (82.6) | 109 (68.1) | 0.065 |
T | 8 (17.4) | 51 (31.9) | 0.065 | ||
Genotypes | CC | 15 (65.2) | 43 (53.7) | 0.353 | |
CT | 8 (34.8) | 23 (28.8) | 0.611 | ||
TT | 0 (0.0) | 14 (17.5) | |||
IL4 -33 (rs2070874) | Alleles | T | 9 (19.6) | 52 (32.5) | 0.102 |
C | 37 (80.4) | 108 (67.5) | 0.102 | ||
Genotypes | TT | 3 (13.05) | 15 (18.8) | 0.757 | |
TC | 3 (13.05) | 22 (27.4) | 0.180 | ||
CC | 17 (73.9) | 43 (53.8) | 0.098 | ||
IL6 -174 (rs1800795) | Alleles | G | 38 (82.6) | 144 (90.0) | 0.193 |
C | 8 (17.4) | 16 (10.0) | 0.193 | ||
Genotypes | GG | 18 (78.3) | 64 (80.0) | 1.000 | |
GC | 2 (8.7) | 16 (20.0) | 0.350 | ||
CC | 3 (13.0) | 0 (0.0) | |||
IL6 nt565 (rs1800797) | Alleles | G | 40 (87.0) | 145 (90.6) | 0.580 |
A | 6 (13.0) | 15 (9.4) | 0.580 | ||
Genotypes | GG | 20 (87.0) | 65 (81.2) | 0.757 | |
GA | 0 (0.0) | 15 (18.8) | |||
AA | 3 (13.0) | 0 (0.0) | |||
IL10 -1082 (rs1800896) | Alleles | A | 32 (69.6) | 88 (55.0) | 0.091 |
G | 14 (30.4) | 72 (45.0) | 0.091 | ||
Genotypes | AA | 9 (39.1) | 8 (10.0) | ||
AG | 14 (60.9) | 72 (90.0) | |||
GG | 0 (0.0) | 0 (0.0) | - | ||
IL10 -819 (rs1800871) | Alleles | C | 23 (50.0) | 103 (64.4) | 0.088 |
T | 23 (50.0) | 57 (35.6) | 0.088 | ||
Genotypes | CC | 6 (26.1) | 23 (28.8) | 1.000 | |
CT | 11 (47.8) | 57 (71.2) | |||
TT | 6 (26.1) | 0 (0.0) | |||
IL10 -592 (rs1800872) | Alleles | A | 19 (41.3) | 57 (35.6) | 0.493 |
C | 27 (58.7) | 103 (64.4) | 0.493 | ||
Genotypes | AA | 2 (8.7) | 0 (0.0) | ||
AC | 15 (65.2) | 57 (71.2) | 0.611 | ||
CC | 6 (26.1) | 23 (28.8) | 1.000 | ||
IL10 -1082, -819, -592 | Haplotypes | ATA | 17 (37.0) | 50 (31.2) | 0.479 |
ACC | 15 (32.6) | 38 (23.8) | 0.252 | ||
GCC | 14 (30.4) | 72 (45.0) | 0.091 |
IL-10 Cytokine Gene Polymorphism association with systemic sclerosis_
Cytokine polymorphism | SSc (n=23) | HC (n=80) | p-value | Odds Ratio | 95% CI | ||
---|---|---|---|---|---|---|---|
IL-10 -1082 (rs1800896) | Alleles | A | 32 (69.6) | 88 (55.0) | 0.091 | 1.870 | 0.928 - 3.77 |
G | 14 (30.4) | 72 (45.0) | 0.091 | 0.535 | 0.265 - 1.078 | ||
Genotypes | AA | 9 (39.1) | 8 (10.0) | 5.786 | 1.904 17.577 | ||
AG | 14 (60.9) | 72 (90.0) | 0.173 | 0.057 - 0.525 | |||
GG | 0 (0.0) | 0 (0.0) | - | - | - | ||
IL-10 -819 (rs1800871) | Alleles | C | 23 (50.0) | 103 (64.4) | 0.088 | 0.553 | 0.285 - 1.073 |
T | 23 (50.0) | 57 (35.6) | 0.088 | 1.807 | 0.932 - 3.504 | ||
Genotypes | CC | 6 (26.1) | 23 (28.8) | 1.000 | 0.875 | 0.306 - 2.497 | |
CT | 11 (47.8) | 57 (71.2) | 0.370 | 0.143 - 0.957 | |||
TT | 6 (26.1) | 0 (0.0) | 0.739 | 0.580 - 0.942 | |||
IL-10 -592 (rs1800872) | Alleles | A | 19 (41.3) | 57 (35.6) | 0.493 | 1.272 | 0.651 - 2.485 |
C | 27 (58.7) | 103 (64.4) | 0.493 | 0.786 | 0.402 - 1.537 | ||
Genotypes | AA | 2 (8.7) | 0 (0.0) | 0.913 | 0.805 - 1.036 | ||
AC | 15 (65.2) | 57 (71.2) | 0.611 | 0.757 | 0.282 - 2.026 | ||
CC | 6 (26.1) | 23 (28.8) | 1.000 | 0.875 | 0.306 - 2.497 | ||
IL-10 -1082, -819, -592 | Haplotypes | ATA | 17 (37.0) | 50 (31.2) | 0.479 | 1.290 | 0.650 - 2.560 |
ACC | 15 (32.6) | 38 (23.8) | 0.252 | 1.553 | 0.759 - 3.179 | ||
GCC | 14 (30.4) | 72 (45.0) | 0.091 | 0.535 | 0.265 - 1.078 |