title: PTPN22 Single-Nucleotide Polymorphisms in Iranian Patients with Type 1 Diabetes Mellitus.
abstract: BACKGROUND
  PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases, including type 1 diabetes (T1D) which is a T-cell-mediated disease.
  
  
  OBJECTIVE
  The present study was aimed at genotyping of an Iranian population for five polymorphisms of the PTPN22 gene.
  
  
  METHODS
  The study population consisted of 99 T1D patients and 100 healthy controls. We genotyped five single-nucleotide polymorphisms (SNPs) (rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601) of the PTPN22 gene.
  
  
  RESULTS
  Regarding the variant rs2476601, genotypes AG and GG were increased and decreased in T1D patients compared with controls, respectively. Further, alleles G and A of this SNP were found to be decreased and increased in T1D patients, respectively (p value = 0.001). However, T1D and control groups did not differ on genotype distribution or allele frequency for other investigated SNPs.
  
  
  CONCLUSIONS
  The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.
authors.affiliation: a Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Abbasi
authors.affiliation: b Molecular Immunology Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Soltani
authors.affiliation: b Molecular Immunology Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Amene
authors.initials: A
authors.lastname: Saghazadeh
authors.affiliation: c Department of Genetics, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Ehsan
authors.initials: E
authors.lastname: Soltaninejad
authors.affiliation: d Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Arezou
authors.initials: A
authors.lastname: Rezaei
authors.affiliation: b Molecular Immunology Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Zare Bidoki
authors.affiliation: c Department of Genetics, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Tayyeb
authors.initials: T
authors.lastname: Bahrami
authors.affiliation: b Molecular Immunology Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.|e Department of Immunology, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Amirzargar
authors.affiliation: d Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.|e Department of Immunology, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.|f Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA) , Universal Scientific Education and Research Network (USERN) , Tehran , Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007492:Iran; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: PTPN22; single-nucleotide polymorphisms; type 1 diabetes