title: CTLA-4 gene A-G polymorphism and childhood Graves' disease.
abstract: OBJECTIVE
  Graves' disease is associated with a polymorphism at position 49 in exon 1 of the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene in Caucasians and Japanese. A high incidence of childhood Graves' disease has been documented in Hong Kong Chinese. The aims of this study were to investigate the CTLA-4 gene A-G polymorphism association in Chinese children with Graves' disease.
  
  
  METHODS
  One hundred and twenty-three Chinese children with Graves' disease (104 girls and 19 boys) and 158 racially matched healthy controls were recruited for the study. Genomic DNA was extracted from venous blood samples. The dimorphism at position 49 A-G was analysed by polymerase chain reaction, single-strand conformation polymorphism and restriction fragment-length polymorphism analysis.
  
  
  RESULTS
  The genotype distribution and allele frequencies of children with Graves' disease differed significantly from those of the controls (P = 0.0023 and P = 0.022, respectively). The presence of at least one G allele (GG or AG) was associated with an increased risk of Graves' disease (OR = 6.8, 95% CI = 2.0-36.1; P = 0.001).
  
  
  CONCLUSIONS
  This study confirms that CTLA-4 49 A-G polymorphism is associated with Graves' disease in Chinese children. The CTLA-4 49 G allele confers an increased risk of childhood Graves' disease.
authors.affiliation: Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong Special Administrative Region, China.
authors.forename: E
authors.initials: E
authors.lastname: Yung
authors.forename: P S
authors.initials: PS
authors.lastname: Cheng
authors.forename: T F
authors.initials: TF
authors.lastname: Fok
authors.forename: G W K
authors.initials: GW
authors.lastname: Wong
mesh_terms: D000069594:Abatacept; D000293:Adolescent; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006111:Graves Disease / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D018796:Immunoconjugates; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018796:Immunoconjugates; D000069594:Abatacept