title: CTLA-4+49 A/G polymorphism and antiglutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children.
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.
authors.affiliation: 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. Electronic address: lin0227@adm.cgmh.org.tw.
authors.forename: Jainn-Jim
authors.initials: JJ
authors.lastname: Lin
authors.affiliation: 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. Electronic address: lincgh@adm.cgmh.org.tw.
authors.forename: Kuang-Lin
authors.initials: KL
authors.lastname: Lin
authors.affiliation: 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; Department of Pediatrics, Chang Gung Memorial Hospital, Chiayi, Taiwan. Electronic address: 8902063@adm.cgmh.org.tw.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: 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. Electronic address: wanghs444@cgmh.org.tw.
authors.forename: Huei-Shyong
authors.initials: HS
authors.lastname: Wang
authors.affiliation: 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; Chang Gung Children's Hospital Study Group for Children with Encephalitis/Encephalopathy Related Status Epilepticus and Epilepsy (CHEESE), Taoyuan, Taiwan. Electronic address: shsia@adm.cgmh.org.tw.
authors.forename: Shao-Hsuan
authors.initials: SH
authors.lastname: Hsia
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Taiwan. Electronic address: lychang@ntu.edu.tw.
authors.forename: Luan-Yin
authors.initials: LY
authors.lastname: Chang
mesh_terms: D000293:Adolescent; D001323:Autoantibodies; D001927:Brain Diseases / Q000235:genetics* / Q000276:immunology*; D060908:CTLA-4 Antigen / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D001323:Autoantibodies; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D005968:Glutamate Decarboxylase
keywords: Anti-glutamic acid decarboxylase antibodies; CLTA-4; Encephalopathy; Taiwan