Polymorphisms of IL-1β gene in Japanese patients with Sjogren's syndrome and systemic lupus erythematosus

• Published in: Journal of rheumatology 2004-04, Vol.31 (4), p.720-725
• Main Authors: MURAKI, Yoshifumi, TSUTSUMI, Akito, SUMIDA, Takayuki, TAKAHASHI, Reiko, SUZUKI, Eiji, HAYASHI, Taichi, CHINO, Yusuke, GOTO, Daisuke, MATSUMOTO, Isao, MURATA, Hideyuki, NOGUCHI, Emiko
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Diseases of the osteoarticular system; DNA - analysis; DNA Primers - chemistry; Female; Genetic Predisposition to Disease; Genome, Human; Genotype; Humans; Interleukin-1 - genetics; Japan; Lupus Erythematosus, Systemic - blood; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - pathology; Male; Medical sciences; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Sjogren's Syndrome - blood; Sjogren's Syndrome - genetics; Sjogren's Syndrome - pathology
• ISSN: 0315-162X; 1499-2752

Interleukin (IL)-1 beta is a proinflammatory cytokine involved in various immune responses. Five polymorphisms in the IL-1 beta gene have been described, and relationships between these polymorphisms and some autoimmune diseases have been reported. Evidence suggests that IL-1 beta may be involved in the destruction of salivary and lacrimal glands in Sjögren's syndrome (SS). We evaluated the significance of IL-1 beta gene polymorphisms in SS. Blood samples were taken from 101 patients with SS, 103 patients with systemic lupus erythematosus (SLE, excluding those with secondary SS), and 106 healthy volunteers. Each polymorphism of the IL-1 beta gene was analyzed by polymerase chain reaction (PCR) amplification of the polymorphic site, followed by site-specific restriction digestion. Genotype frequencies of each polymorphism in SS patients were compared with those of the controls and SLE patients, and differences between primary and secondary SS patients were also compared. Genotypes CC, TT, and AA in positions -511, -31, and 3877, respectively, were significantly less frequent in SS patients than controls or patients with SLE. No significant differences were found in genotype frequencies of any of the polymorphisms between patients with primary SS and secondary SS. IL-1 beta gene polymorphisms may affect susceptibility to SS, but not SLE.