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Interleukin-1β and Tumor Necrosis Factor-α Gene Polymorphisms in Systemic Sclerosis

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06 mar 2025

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IL-1β Cytokine Gene Polymorphism association with systemic sclerosis_

Cytokine polymorphism SSc (n=23) HC (n=80) p-value Odds Ratio 95% CI
IL-1β -511 (rs16944) Alleles T 33 (71.7) 80 (50.0) 0.011* 2.538 1.245 - 5.177
C 13 (28.3) 80 (50.0) 0.011* 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) 0.01* 0.374 0.184 - 0.760
T 18 (39.1) 31 (19.4) 0.01* 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) p-value Odds Ratio 95% CI
TNF-α -308 (rs1800629) Alleles G 42 (91.3) 103 (64.4) 0.000* 5.811 1.982 - 17.032
A 4 (8.7) 57 (35.6) 0.000* 0.172 0.059 - 0.504
Genotypes GG 19 (82.6) 23 (28.8) 0.000* 11.772 3.61 - 38.384
GA 4 (17.4) 57 (71.2) 0.000* 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) 0.000* 0.239 0.114 - 0.497
A 19 (41.3) 23 (14.4) 0.000* 4.192 2.011 - 8.737
Genotypes GG 4 (17.4) 57 (71.2) 0.000* 0.085 0.026 - 0.277
GA 19 (82.6) 23 (28.8) 0.000* 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) 0.000* 0.172 0.059 - 0.504
GA 19 (41.3) 23 (14.4) 0.000* 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) p-value
IL1β -511 (rs16944) Alleles T 33 (71.7) 80 (50.0) 0.011*
C 13 (28.3) 80 (50.0) 0.011*
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) 0.01*
T 18 (39.1) 31 (19.4) 0.01*
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) 0.048*
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) 0.005*
A 30 (65.2) 66 (41.2) 0.005*
Genotypes CC 0 (0.0) 35 (43.8) 0.000*
CA 16 (69.6) 24 (30.0) 0.001*
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) 0.006*
GC 11 (47.8) 64 (80.0) 0.006*
CC 0 (0.0) 0 (0.0) -
TGFβ1 codon10, codon25 Haplotypes CG 12 (26.1) 17 (10.6) 0.014*
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) 0.000*
A 4 (8.7) 57 (35.6) 0.000*
Genotypes GG 19 (82.6) 23 (28.8) 0.000*
GA 4 (17.4) 57 (71.2) 0.000*
AA 0 (0.0) 0 (0.0) -
TNFα -238 (rs361525) Alleles G 27 (58.7) 137 (85.6) 0.000*
A 19 (41.3) 23 (14.4) 0.000*
Genotypes GG 4 (17.4) 57 (71.2) 0.000*
GA 19 (82.6) 23 (28.8) 0.000*
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) 0.000*
GA 19 (41.3) 23 (14.4) 0.000*
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) 0.048*
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) 0.036*
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) 0.01*
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) 0.021*
AA 3 (13.0) 0 (0.0) 0.01*
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) 0.002*
AG 14 (60.9) 72 (90.0) 0.002*
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) 0.047*
TT 6 (26.1) 0 (0.0) 0.000*
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) 0.048*
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) 0.002* 5.786 1.904 17.577
AG 14 (60.9) 72 (90.0) 0.002* 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) 0.047* 0.370 0.143 - 0.957
TT 6 (26.1) 0 (0.0) 0.000* 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) 0.048* 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
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medycyna, Podstawowe nauki medyczne, Podstawowe nauki medyczne, inne