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Genetic predisposition to systemic sclerosis (SSc) has still not been fully revealed. Interleukin-6 (IL-6) is a mediator of T cell proliferation and fibrotic events in SSc. Polymorphisms in the IL-6 are found to be important in susceptibility to development of SSc. We aimed to assess the frequency of -174 C/G of
IL-
6 gene polymorphism in SSc patients and healthy controls, as well as correlation with disease manifestations. In the case-control study, 102 patients with SSc and 93 controls were included. PCR-RFLP method was performed for genotyping promotor variants -174 C/G of
IL-
6 gene
.
The expression level of
IL-6
was determined by qRT-PCR on subset of 50 patients and 13 healthy controls with different IL-6 genotypes. We used UCLA GIT 2.0 questionnaire to assess gastrointestinal involvement in SSc patients. The expression level of
IL
-6 gene was significantly higher in patients with SSc in comparison with healthy controls (
p
< 0.05). Carriers of C-allele
of IL-6
gene compared to those with G allele, showed higher expression of
IL-6
gene (95.8 vs. 41.2,
p
< 0.05), higher GIT total score (0.85 vs. 0.5,
p
< 0.05) and higher distension scale score (1.4 ± 0.9 vs. 0.78 ± 0.8,
p
= 0.05). No significant differences in genotype distribution and allele frequency were observed between patients and controls. The expression of
IL6
gene varies significantly during the course of SSc. The
IL-
6 gene variant -174 C/G (presence of C-allele) is associated with higher IL-6 gene expression and greater GIT impairment in patients with SSc.