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  1. NTU Scholars
  2. 醫學院
  3. 醫學系
Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/525526
Title: CTLA-4+49 A/G polymorphism and antiglutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children
Authors: Lin, Jainn-Jim
Lin, Kuang-Lin
Wang, Yu
Wang, Huei-Shyong
Hsia, Shao-Hsuan
LUAN-YIN CHANG 
HUEI WANG 
Issue Date: 2016
Publisher: Elsevier B.V.
Journal Volume: 38
Journal Issue: 4
Start page/Pages: 419-426
Source: Brain and Development
Abstract: 
Background: Anti-glutamic acid decarboxylase antibodies are associated with encephalopathy, an autoimmune central nervous system inflammatory disease. The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4)+49 A/G polymorphism has been shown to confer genetic susceptibility to positive anti-glutamic acid decarboxylase antibodies in patients with type 1 diabetes mellitus in Japan. We aimed to investigate the association of the CTLA-4+49 A/G (rs231775) polymorphism in Taiwanese children with anti-glutamic acid decarboxylase antibody-associated encephalopathy. Methods: This was a case-control study from July 2011 to June 2012 performed at Chang Gung Children's Hospital in Taiwan. Genotyping of the CTLA-4+49 A/G polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism. Results: Seventeen patients with anti-glutamic acid decarboxylase antibody-associated encephalopathy and 97 controls were enrolled. The genotype, allele and carrier frequencies of the CTLA-4+49 A/G polymorphism were equally distributed in the patients and controls, with no significant differences between the two groups. In addition, we found a positive trend between the level of anti-glutamic acid decarboxylase antibodies and the G allele of the CTLA-4+49 A/G polymorphism, although this trend was not statistically significant. Conclusions: Our results suggest that the CTLA-4+49 A/G (rs231775) polymorphism does not confer an increased susceptibility to anti-glutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children. ? 2015 The Japanese Society of Child Neurology.
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84959246787&doi=10.1016%2fj.braindev.2015.10.006&partnerID=40&md5=9d7de3ecf07789bb912c93a3fb6304ca
https://scholars.lib.ntu.edu.tw/handle/123456789/525526
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2015.10.006
SDG/Keyword: cytotoxic T lymphocyte antigen 4; glutamate decarboxylase antibody; autoantibody; CTLA4 protein, human; cytotoxic T lymphocyte antigen 4; glutamate decarboxylase; adolescent; allergic encephalitis; antibody blood level; Article; case control study; child; clinical article; clinical feature; controlled study; epileptic state; female; fever; follow up; gene frequency; genetic association; genetic polymorphism; genetic susceptibility; genetic variability; genotype; glutamic acid decarboxylase antibody associated encephalopathy; human; male; preschool child; procedures; school child; Taiwanese; upper respiratory tract infection; vomiting; brain disease; genetic predisposition; genetics; immunology; restriction fragment length polymorphism; single nucleotide polymorphism; Taiwan; Adolescent; Autoantibodies; Brain Diseases; Child; Child, Preschool; CTLA-4 Antigen; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Glutamate Decarboxylase; Humans; Male; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Taiwan
[SDGs]SDG3
Appears in Collections:醫學系

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