Interleukin 1a Single-Nucleotide Polymorphism Associated with Systemic Sclerosis

BEÁTA HUTYROVÁ, JOZEF LUKÁC, VLADIMÍR BOSÁK, MILAN BUC, ROLAND M. du BOIS, and MARTIN PETREK

ABSTRACT.

Objective. In systemic sclerosis (SSc), constitutive expression of the proinflammatory and fibrogenic cytokine interleukin 1a (IL-1a) 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-1a gene in patients with SSc.

Methods. Genotyping of IL-1a –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-1a –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-1a –889 T allele was increased in SSc patients (38.0%) in comparison with controls (25.7%; p = 0.02).

Conclusion. The IL-1a –889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc. (J Rheumatol 2004;31:81-4)

Key Indexing Terms:

SYSTEMIC SCLEROSIS
INTERLEUKIN 1
SINGLE-NUCLEOTIDE POLYMORPHISM
CASE-CONTROL STUDY
GENETIC SUSCEPTIBILITY

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From the Department of Immunology, Palacky University, Olomouc, Czech Republic; the Research Institute of Rheumatic Diseases, Piestany, Slovak Republic; the Molecular Genetics Unit, Imperial College of Science, Technology and Medicine, London, United Kingdom; and Department of Immunology, Comenius University, Bratislava, Slovak Republic.

Supported by the Grant Agency of the Czech Republic (reg. No 310/99/1676) and the Czech Government (MSM.15110002; Kontakt CR/SR/2001/Im-222/129).

B. Hutyrová, MD, Physician, Department of Immunology and Respiratory Medicine, Palacky University and University Hospital; J. Lukác, MD, PhD, Associate Professor; V. Bosák, PhD, Senior Scientist, Research Institute of Rheumatic Diseases; M. Buc, MD, DSc, Professor, Department of Immunology, Comenius University; R.M. du Bois, MD, Consultant Physician, Royal Brompton Hospital, Professor of Respiratory Medicine, Imperial College of Science, Technology and Medicine; M. Petrek, MD, PhD, Professor, Department of Immunology, Palacky University and University Hospital.

Address reprint requests to Dr. M. Petrek, Department of Immunology, Palacky University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic. E-mail: petrekm@fnol.cz

Submitted January 6, 2003; revision accepted June 17, 2003.

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