CTLA-4+49 A/G polymorphism and antiglutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children

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• 作者：Jainn-Jim Lin^a ; ^b ; ^c ; ^d ; ^e ; ¹ ; ^{lin0227@adm.cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Kuang-Lin Lin^b ; ^d ; ¹ ; ^{lincgh@adm.cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Yu Wang^a ; ^f ; ^{8902063@adm.cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Huei-Shyong Wang^b ; ^d ; ^{wanghs444@cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Shao-Hsuan Hsia^a ; ^d ; ^{shsia@adm.cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Luan-Yin Chang^g ; ^{lychang@ntu.edu.tw" class="auth_mail" title="E-mail the corresponding author} ; The CHEESE Study Group^d
• 关键词：CLTA-4 ; Anti-glutamic acid decarboxylase antibodies ; Encephalopathy ; Taiwan
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：38
• 期：4
• 页码：419-426
• 全文大小：203 K

文摘

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.