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

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

Balkan Journal of Medical Genetics

Volume 27 (2024): Issue 2 (December 2024)

By:

M.A Hakami, B.S Alotaibi, S.S Alkhalil, S Das, N Nasreen, M.A Jeraiby, A Jawed, M Lohani and S.A Dar

Open Access

|Mar 2025

Figures & Tables

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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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*
	Alleles	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*
	Alleles	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
	Alleles	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*
	Alleles	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
	Alleles	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
	Alleles	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*
	Alleles	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*
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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
	Alleles	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

DOI: https://doi.org/10.2478/bjmg-2024-0017 | Journal eISSN: 2199-5761

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Language: English

Page range: 59 - 68

Published on: Mar 6, 2025

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 times per year

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© 2025 M.A Hakami, B.S Alotaibi, S.S Alkhalil, S Das, N Nasreen, M.A Jeraiby, A Jawed, M Lohani, S.A Dar, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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