台湾儿童中CTLA-4 +49 A/G多态性与抗谷氨酸脱羧酶抗体相关脑病

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

作者信息

Lin Jainn-Jim, Lin Kuang-Lin, Wang Yu, Wang Huei-Shyong, Hsia Shao-Hsuan, Chang Luan-Yin

机构信息

Division of Pediatric Critical Care and Pediatric Neurocritical Care Center, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Chang Gung Children's Hospital Study Group for Children with Encephalitis/Encephalopathy Related Status Epilepticus and Epilepsy (CHEESE), Taoyuan, Taiwan; Molecular Infectious Disease Research Center, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Chang Gung Children's Hospital Study Group for Children with Encephalitis/Encephalopathy Related Status Epilepticus and Epilepsy (CHEESE), Taoyuan, Taiwan.

出版信息

Brain Dev. 2016 Apr;38(4):419-26. doi: 10.1016/j.braindev.2015.10.006. Epub 2015 Nov 3.

DOI:10.1016/j.braindev.2015.10.006

PMID:26546236

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.

摘要

背景

抗谷氨酸脱羧酶抗体与脑病相关，后者是一种自身免疫性中枢神经系统炎症性疾病。在日本，细胞毒性T淋巴细胞相关抗原4（CTLA - 4）+49 A/G多态性已被证明赋予1型糖尿病患者抗谷氨酸脱羧酶抗体阳性的遗传易感性。我们旨在研究台湾儿童中CTLA - 4 +49 A/G（rs231775）多态性与抗谷氨酸脱羧酶抗体相关脑病的关联。

方法

这是一项于2011年7月至2012年6月在台湾长庚儿童医院进行的病例对照研究。通过聚合酶链反应 - 限制性片段长度多态性对CTLA - 4 +49 A/G多态性进行基因分型。

结果

纳入了17例抗谷氨酸脱羧酶抗体相关脑病患者和97例对照。CTLA - 4 +49 A/G多态性的基因型、等位基因和载体频率在患者和对照中均匀分布，两组之间无显著差异。此外，我们发现抗谷氨酸脱羧酶抗体水平与CTLA - 4 +49 A/G多态性的G等位基因之间存在正相关趋势，尽管这种趋势无统计学意义。