title: [Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD].
abstract: OBJECTIVE
  To evaluate the association of PTPN22 gene polymorphism with autoimmune thyroid disease (AITD) in Chinese people and to analyze the relationship between SNP of CTLA-4 gene and SNP of PTPN22 gene.
  
  
  METHODS
  149 patients with Graves' disease (GD) and 82 patients with Hashimoto's thyroiditis (HT) as well as 131 healthy people as controls were investigated. PTPN22 gene polymorphism +1858 C>T and CTLA-4 gene polymorphism 49A>G were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). PTPN22 gene polymorphism -1123G>C at promoter was genotyped by single allele-specific primer polymerase chain reaction (SASP-PCR).
  
  
  RESULTS
  (1) +1858C>T for PTPN22 gene was not polymorphic enough in patients and controls. (2) Statistic differences in alleles and genotype frequency of -1123G>C were observed between GD patients and controls (P=0.040, 0.013; OR=1.44, 2.33, respectively). (3) Differences in alleles and genotype frequency of 49A>G for CTLA-4 gene were observed in patients and controls. (4) Individuals with PTPN22 CC genotype and CTILA-4 G alleles had an increased risk of developing GD (OR=3.31, 95%CI: 2.69-8.89) compared with those with PTPN22 G alleles and CTLA-4 AA genotype.
  
  
  CONCLUSIONS
  -1123 G>C SNP of PTPN22 gene is associated with GD. There is coordination between PTPN22 CC genotype and CTLA-4 G alleles in the development of GD.
authors.affiliation: Department of Endocrinology, First Affiliated Hospital, Medical College of Xi'an Jiaotong University, Xi'an 710061, China. yuzhyun@hotmail.com
authors.forename: Zhi-Yun
authors.initials: ZY
authors.lastname: Yu
authors.forename: Jin-An
authors.initials: JA
authors.lastname: Zhang
authors.forename: Ha-Ba
authors.initials: HB
authors.lastname: Maier
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Wan-Xia
authors.initials: WX
authors.lastname: Xiao
authors.forename: Ying
authors.initials: Y
authors.lastname: Quan
authors.forename: Bao-Ning
authors.initials: BN
authors.lastname: Dong
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics; D060908:CTLA-4 Antigen; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006111:Graves Disease / Q000235:genetics; D050031:Hashimoto Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D013967:Thyroiditis, Autoimmune / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22