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중증근무력증 환자의 CTLA-4 유전자 다형성

Other Titles
 CTLA-4 Polymorphism in Myasthenia Gravis 
 박지형  ;  이철호  ;  최영철  ;  이경열  ;  김원주  ;  김현숙  ;  이진성 
 Journal of the Korean Neurological Association, Vol.22(5) : 504-507, 2004 
Journal Title
Journal of the Korean Neurological Association
Issue Date
Cytotoxic T lymphocyte antigen-4 ; Polymorphism ; Myasthenia gravis
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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Won Joo(김원주) ORCID logo https://orcid.org/0000-0002-5850-010X
Kim, Hyun Sook(김현숙)
Lee, Kyung Yul(이경열) ORCID logo https://orcid.org/0000-0001-5585-7739
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
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