CTLA-4 Polymorphism in Myasthenia Gravis

J Korean Neurol Assoc > Volume 22(5); 2004 > Article

Journal of the Korean Neurological Association 2004;22(5): 504-507.

중증근무력증 환자의 CTLA-4 유전자 다형성

박지형, 이철호* 이진성* 김현숙 김원주 이경열 최영철

연세대학교 의과대학 신경과학교실, 임상유전학과*

CTLA-4 Polymorphism in Myasthenia Gravis

Ji-Hyung Park,

Department of Neurology, Clinical Genetics*, Yonsei University College of Medicine, Seoul, Korea

Abstract

Background: Cytotoxic T lymphocyte associated antigen 4 (CTLA-4) plays a role in down-regulating both the cellular and the humoral responses by suppressing the ongoing responses of activated T-cells. There are evidences to suggest the genetic contribution of the CTLA-4 locus to a number of autoimmune diseases, such as insulin dependent diabetes mellitus, multiple sclerosis and systemic lupus erythematosus. The aim of the present study is to analyze CTLA-4 gene polymorphism in patients with myasthenia gravis (MG) compared to healthy controls.
Methods: Thirty healthy controls and 31 patients with MG were genotyped into G/G, A/G and A/A of CTLA-4 gene polymorphism at position 49 and the relationship with the clinical feature was analysed.
Results: In the patients with MG, the genotype frequencies of G/G, A/G and A/A were 61.3%, 35.5% and 3.2%, respectively. In healthy controls, the frequencies of each genotype were 50%, 43% and 7%, respectively. There was no significant difference in the genotype frequencies of CTLA-4 gene between patients with MG and the control group. There were also no significant differences in the genotype frequencies of CTLA-4 gene between ocular and generalized MG.
Conclusions: These data suggest that the CTLA-4 polymorphism at position 49 do not affect the development of MG. However, further study is needed to clarify the possible role of the CTLA-4 polymorphism in the susceptibility to MG.Key Words: Cytotoxic T lymphocyte antigen-4, Polymorphism, Myasthenia gravis