Interleukin 1alpha single-nucleotide polymorphism associated with systemic sclerosis
Language English Country Canada Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
14705223
PII: 0315162X-31-81
Knihovny.cz E-resources
- MeSH
- Genetic Predisposition to Disease MeSH
- Genotype MeSH
- Interleukin-1 genetics MeSH
- Polymorphism, Single Nucleotide * MeSH
- Humans MeSH
- Case-Control Studies MeSH
- Scleroderma, Systemic genetics MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Interleukin-1 MeSH
OBJECTIVE: In systemic sclerosis (SSc), constitutive expression of the proinflammatory and fibrogenic cytokine interleukin 1alpha (IL-1alpha) by dermal fibroblasts from the affected skin has been observed. We investigated the association of a single-nucleotide polymorphism at position -889 in the IL-1alpha gene in patients with SSc. METHODS: Genotyping of IL-1alpha-889 polymorphism was performed in 46 patients with SSc and in 150 healthy controls by polymerase chain reaction with sequence-specific primers. All subjects were unrelated Slovak Caucasians. RESULTS: In SSc patients, carriers of the IL-1alpha-889 T allele were significantly overrepresented in comparison with controls (63.0% vs 42.0%; p = 0.01, OR 2.3, 95% CI 1.2-4.6). The frequency of the IL-1alpha-889 T allele was increased in SSc patients (38.0%) in comparison with controls (25.7%; p = 0.02). CONCLUSION: The IL-1alpha-889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc.