title: Association of Graves' disease and Graves' ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene.
abstract: OBJECTIVE
  To investigate the association of Graves' disease and Graves' ophthalmopathy with the C/T transition polymorphism at position -318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene.
  
  
  METHODS
  Thirty-three patients with ophthalmopathy of Graves' disease, fifty-six Graves' patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allele frequencies between the groups.
  
  
  RESULTS
  The gene frequencies of CT and allele frequencies of T were much higher in Graves' patients with ophthalmopathy than that in the group without ophthalmopathy (P=0.020, P=0.019). The gene frequencies of GG and allele frequencies of G in patients with Graves' disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with Graves' disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018).
  
  
  CONCLUSIONS
  Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves' ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves' disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.
authors.affiliation: Department of Very Important People, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.forename: Yun-mei
authors.initials: YM
authors.lastname: Yang
authors.forename: Xue-ying
authors.initials: XY
authors.lastname: Lv
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000150:complications / Q000235:genetics*; D049970:Graves Ophthalmopathy / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012680:Sensitivity and Specificity
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human