title: A novel single nucleotide polymorphism in the protein tyrosine phosphatase N22 gene (PTPN22) is associated with Type 1 diabetes in a Chinese population.
abstract: OBJECTIVE
  To examine single nucleotide polymorphisms in the protein tyrosine phosphatase N22 gene (PTPN22) and to study their association with Type 1 diabetes in a Chinese cohort.
  
  
  METHODS
  Three hundred and sixty-four young patients with Type 1 diabetes and 719 healthy children were included in this case-controlled study. The genotypes of rs1217385, rs2488457 (-1123C>G), rs1217414, rs1217419, rs3765598 and rs2476601 (1858C>T) in the PTPN22 gene were determined using the SNaPshot method. Alleles, genotypes and haplotype frequencies were compared between patients with Type 1 diabetes and healthy control subjects. The association between single nucleotide polymorphisms and clinical traits/autoantibody status was also analysed.
  
  
  RESULTS
  The single nucleotide polymorphism, rs1217419, located in the second intron of the PTPN22 gene was associated with Type 1 diabetes (odds ratio 1.5, 95% CI 1.14-1.97, P = 0.003). An additional single nucleotide polymorphism, rs1217385, was also associated with Type 1 diabetes; however, the association was secondary to that of rs1217419. The previously reported single nucleotide polymorphism that is associated with Type 1 diabetes (-1123G>C) had only marginal association with Type 1 diabetes in our study. A marginal association was also identified between -1123G>C and glutamic acid decarboxylase autoantibody positivity in patients with Type 1 diabetes. There was no association between the single nucleotide polymorphism 1858C>T and Type 1 diabetes in our studied cohort.
  
  
  CONCLUSIONS
  Our study confirmed that PTPN22 is a gene that contributes to Type 1 diabetes susceptibility. The primary association occurs with single nucleotide polymorphism rs1217419 and there is clear heterogeneity of the association between PTPTN22 polymorphisms and Type 1 diabetes in a Chinese population compared with other populations.
authors.affiliation: Department of Pediatric Endocrinology and Inborn Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Pei
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: C
authors.initials: C
authors.lastname: Sun
authors.forename: H
authors.initials: H
authors.lastname: Du
authors.forename: H
authors.initials: H
authors.lastname: Wei
authors.forename: W
authors.initials: W
authors.lastname: Song
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: M
authors.initials: M
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Lu
authors.forename: R
authors.initials: R
authors.lastname: Cheng
authors.forename: F
authors.initials: F
authors.lastname: Luo
mesh_terms: D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; C517652:hemoglobin A1c protein, human; C516765:PTPN22 protein, human