CTLA-4+49 A/G polymorphism and antiglutamic acid decarboxylase antibody-associated encephalopathy in Taiwanese children
Journal
Brain and Development
Journal Volume
38
Journal Issue
4
Pages
419-426
Date Issued
2016
Author(s)
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.
SDGs
Other Subjects
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
Publisher
Elsevier B.V.
Type
journal article