IL-1β and IL-1 Receptor Antagonist Gene Polymorphisms in Myasthenia Gravis

J Korean Neurol Assoc > Volume 23(4); 2005 > Article

Journal of the Korean Neurological Association 2005;23(4): 484-489.

중증근무력증과 인터루킨-1β, 인터루킨-1 수용체 길항제 유전자 다형성의 연관성: 예비연구

박지형, 김현숙a 김원주 김대성b 최영철

연세대학교 의과대학 신경과학교실, 포천중문의과대학 신경과학교실a, 부산대학교 의과대학 신경과학교실b

IL-1β and IL-1 Receptor Antagonist Gene Polymorphisms in Myasthenia Gravis

Ji-Hyung Park

Department of Neurology, Yonsei University College of Medicine, Seoul; Department of Neurology, Pochon CHA University College of Medicinea, Gyeonggi; Department of Neurology, Pusan National University School of Medicineb, Busan, Korea

Abstract

Background: Myasthenia gravis (MG) is an autoimmune disorder characterized by an immune response against the nicotinic acetylcholine receptor at the neuromuscular junction. Genetic factors as well as abnormalities of immune regulation can increase the likelihood of MG. Proinflammatory cytokines interleukin (IL)-1α, IL-1β, and their receptor antagonist (IL-1Ra) play major roles in initiating and modulating immune responses. The aim of the present study was to analyze IL-1β and IL-1 Ra gene polymorphisms between MG patients and healthy controls.
Methods: TaqI restriction fragment polymorphism (RFLP) in exon 5 of IL-1β and variable numbers of an 86-bp tandem repeat (VNTR) in intron 2 of IL-1Ra were analyzed in 80 patients with MG and 94 matched healthy control individuals.
Results: In IL-1β TaqI RFLP, the genotype of A1/A1 and A1/A2 were 92.5% and 7.5% in patients with MG. In healthy controls, the frequencies of each genotype were 93.6% and 6.4% respectively. IL-1Ra polymorphism, the genotypes of A1/A1, A1/A2 and A1/A3 were 81.3%, 16.3%, and 2.5% in patients with MG. In healthy controls, the frequencies of each genotype were 87.2%, 7.4% and 3.2% respectively. There was no significant difference in the genotype frequencies of IL-1β TaqI RFLP and IL-1Ra polymorphism between patients and the control group.
Conclusions: These data suggested that the IL-1β and IL-1Ra gene polymorphisms may not be associated with MG. However, further study is needed to clarify the possible role of IL-1β and IL-1Ra gene polymorphisms in the susceptibility to myasthenia gravis. KeyWords:IL-1β, IL-1Ra, Myasthenia gravis