title: Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population.
abstract: OBJECTIVE
  To investigate the association between Chinese patients with autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polymorphisms of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter (-318) and exon 1 (+49).
  
  
  METHODS
  CTLA-4 promoter (-318 T/C) and exon1 (+49A/G) polymorphisms were genotyped via restriction fragment length polymorphism methods in 62 Chinese AIH patients, 77 Chinese PBC patients and 160 healthy controls.
  
  
  RESULTS
  We found a significant association in CTLA-4 gene exon1 49 A/G polymorphism between PBC patients and controls (P = 0.006) and the frequency of G alleles was significantly increased in comparison with controls (P = 0.0046, OR = 1.8). We also found the frequency of C alleles in promoter -318 was significantly increased in AIH patients compared with controls (P = 0.02, OR = 0.41). Although the genotype distribution of the CTLA-4 exon 1-promoter gene was not significantly different between AIH and PBC patients and controls, the occurrence of GG-CC was increased in two groups of patients (AIH: 32.3%, PBC: 37.7%, control: 22.5%).
  
  
  CONCLUSIONS
  Polymorphisms of CTLA-4 gene probably confer susceptibility to AIH and PBC in Chinese population.
authors.affiliation: The Center of Clinical Immunology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China. flieying@hotmail.com
authors.forename: Lie-Ying
authors.initials: LY
authors.lastname: Fan
authors.forename: Xiao-Qing
authors.initials: XQ
authors.lastname: Tu
authors.forename: Qu-Bo
authors.initials: QB
authors.lastname: Cheng
authors.forename: Ye
authors.initials: Y
authors.lastname: Zhu
authors.forename: Ralph
authors.initials: R
authors.lastname: Feltens
authors.forename: Thomas
authors.initials: T
authors.lastname: Pfeiffer
authors.forename: Ren-Qian
authors.initials: RQ
authors.lastname: Zhong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D019693:Hepatitis, Autoimmune / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human