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The IL-6 promoter polymorphism is associated with disease activitz and distability in systemic sclerosis

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: Sfrent-Cornateanu R., Mihai C., Balan S., Ionescu R., Moldoveanu E

Editorial: J.Cell.Mol. Med, 10(4), p.955-959, 2006.


Systemic sclerosis (SSc) is a rare, autoimmune disease characterized by cutaneous and visceral fibrosis. Interleukin-
6 (IL-6) is involved in the pathogenesis of many immune-mediated diseases. IL-6 plays an important role in the initiation
and promotion of fibrosis. The polymorphism in the position -174 (G/C) of the promoter region of the IL-6
gene (IL-6pr) may alter the expression of the gene. Complete linkage disequilibrium was observed between the -174
and -597 alleles. The aim of this study is to investigate the possible influence of -597 (-174) IL-6pr polymorphism
on the susceptibility and/or the clinical course of SSc in Romanian population. Genotyping of -597 variant was performed
by an RFLP method on 20 SSc patients and 26 healthy subjects. Patients having the homozygous GG (-597)
genotype had higher disease activity and disability scores than heterozygous GA patients: the European Scleroderma
Study Group (EScSG) disease activity score was 5.0 ± 3.3 in homozygous GG subjects vs. 2.4 ± 3.6 in heterozygous
GA patients (p < 0.05), and the Disability Index of the Health Assessment Questionnaire (HAQ-DI) was 1.42 ± 1.04 in homozygous GG subjects vs. 0.53 ± 0.55 in heterozygous GA patients (p < 0.05). No difference was observed in the distribution of allele frequencies between SSc patients and healthy controls. Conclusions: The GG homozygosis was found to be associated with a higher degree of illness activity and disability in SSc patients. No statistically significant differences were found between SSc patients and healthy controls with respect to the -597 allele distribution.

Cuvinte cheie: interleukin-6 (IL-6) • gene polymorphism • systemic sclerosis (SSc) • fibrosis • cytokine