1. Student of Cellular and Molecular biology
IL-1β and IL-10 polymorphisms among Iranian Systemic Sclerosis (SSc) Patients
Presented By:
Shervin Abtahi
Student of Cellular and Molecular biology
University of Tehran
07/06/2012

2. Outline Introduction of Systemic Sclerosis (SSc) Aim
Material and methods
Results
Conclusion
References

3. Introduction
Systemic sclerosis (SSc), or scleroderma, is a chronic multisystem disorder of small vessels and connective tissues
Characterized by diffuse fibrosis of the skin and internal organs
4:1 female predilection
typically occurs in the third to fifth decades of life
Up to 80% of patients have limited cutaneous disease
20% with diffuse involvement may have more severe and rapidly progressive skin, lung, cardiac, and gastrointestinal disease

4. Aim
The aim of this study was to investigate the association between IL-1β -511,+3962 and IL , – 819 , -592 gene polymorphisms and SSc in a case – control study.

5. The role of IL-1β and IL-10 in Systemic Sclerosis

7. Material and Methods 170 patients / 140 controls DNA Extraction
SNPs genotyping by PCR
Odds ratios with 95% confidence intervals were calculated
P values were determined by the chi-squared
A P-value of <0.05 was considered statistically significant.

8. IL-1β 215 bp 340 bp C T T C Position -511 Position +3962
Internal Control 440 bp C T T C
IL1-1β
(-511 / +3962):
CC / TC

9. IL-10 Internal Control 90 bp 305 bp 530 bp 305 bp 530 bp IL-10
(-1082/ -819/ -592)
GA / CC / CC
530 bp

10. Results

11. IL-1β polymorphism in position -511 (C/T) rs16944
Allels/
Genotype
Patient
N=170
F(%)
Control
N=140
Odd Ratio
(95%CI)
P value C
158 (46.47)
124 (44.60) 1α
0.64 T
182 (53.53)
154 (55.40)
0.67<0.93<1.28 CC
55 (32.35)
58 (41.42) - TC
102 (60)
70 (50)
0.95<1.54<2.48
0.08 TT
13 (7.64)
12 (8.58)
0.48<1.14<2.72
0.76

12. IL-1β polymorphism in position +3962 (C/T) rs1143634
Allels/
Genotype
Patient
N=170
F(%)
Control
N=140
Odd Ratio
(95%CI)
P value C
259 (76.40)
198 (70.71) 1α
0.11 T
80 (23.60)
82 (29.29)
0.52<0.75<1.07 CC
102 (60.0)
70 (50.0) - TC
55 (32.35)
58 (41.42)
0.40<0.65<1.05
0.08 TT
12 (7.05)
12 (8.58)
0.29<0.69<1.62
0.39

13. IL-10 polymorphism in position -1082(G/A) rs1800896
Allels / Genotype
Patient
N= 170
F (%)
Control
N=140
Odd Ratio
(95% CI)
P value A
187 (55.0)
181 (64.6) 1a - G
153 (45.0)
99 (35.4)
1.08 < 1.50 < 2.07
0.015 AA
20 (11.8)
53 (37.8) AG
147 (86.4)
75 (53.6)
2.90 < 5.19 < 9.32
0.001 > GG
3 (1.8)
12 (8.6)
0.17 < 0.66 < 2.60
0.55

14. IL-10 polymorphism in position -819(C/T) rs1800871
Allels / Genotype
Patient
N= 170
F (%)
Control
N=140
Odd Ratio
(95% CI)
P value C
246(72.3)
199(71.1) 1a - T
94(27.7)
81(28.9)
0.66 < 0.94 < 1.33
0.724 CC
82(48.2)
71(50.7) CT
57(40.7)
0.78 < 1.25 < 1.98
0.353 TT
6(3.6)
12(8.6)
0.15 < 0.43 < 1.21
0.103

15. IL-10 polymorphism in position -592(C/A) rs1800872
Allels / Genotype
Patient
N= 170
F (%)
Control
N=140
Odd Ratio
(95% CI)
P value C
245 (72.0)
199(71.1) 1a - A
95 (28.0)
81(28.9)
0.67 < 0.95 < 1.35
0.786 CC
86 (50.6)
71(50.7) AC
73 (42.9)
57(40.7)
0.66 < 1.06 < 1.69
0.815 AA
11 (6.5)
12(8.6)
0.31 < 0.76 < 1.81
0.532

16. Conclusion
Results show that polymorphisms in IL-10 might be involved in predisposition to SSc in our population.
The exact role of this candidate region and the importance of other pro-inflammatory cytokine gene polymorphisms in susceptibility to SSc are subject to further studies.

17. References
Sakkas LI et al. (2006) Mechanisms of Disease: the role of immune cells in the pathogenesis of systemic sclerosis Nat Clin Pract Rheumatol 2: 679–685 doi: /ncprheum0346
Gu YS, Kong J, Cheema GS, Keen CL, Wick G, Gershwin ME. The immunobiology of systemic sclerosis. Seminars in arthritis and rheumatism. 2008;38(2): Epub 2008/01/29.
Gambhir D, Lawrence A, Aggarwal A, Misra R, Mandal SK, Naik S. Association of tumor necrosis factor alpha and IL-10 promoter polymorphisms with rheumatoid arthritis in North Indian population. Rheumatol Int. 2010;30(9):
Alanara T, Karstila K, Moilanen T, Silvennoinen O, Isomaki P. Expression of IL-10 family cytokines in rheumatoid arthritis. Scand J Rheumatol. 2010;39(2):