title: Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
abstract: BACKGROUND
  Type 1 diabetes is a multifactorial disease with a strong genetic component. The aim of the study was to assess the impact of single nucleotide polymorphisms (SNPs) in several genes as susceptible markers in the risk of type 1 diabetes in the Estonian population.
  
  
  METHODS
  The rs6679677 (1p13), rs17696736 (12q24) and rs763361 (18q22) were genotyped in a total of 230 controls and 154 type 1 diabetes patients of Estonian origin.
  
  
  RESULTS
  The rs6679677 A (OR = 2.13, 95%CI = 1.48-3.08, p = 0.00001), rs17696736 G (OR = 1.53, 95%CI = 1.14-2.04, p = 0.0046) and rs763361 T (OR = 1.48, 95%CI = 1.11-1.98, p = 0.0084) alleles were associated with risk of type 1 diabetes.
  
  
  CONCLUSIONS
  The current study supports the rs6679677 (PHTF1-PTPN22), rs17696736 (C12orf30) and rs763361 (CD226) SNPs as susceptibility factors for type 1 diabetes outside the major histocompatibility region (MHC) region. The full study had 80% or above to detect an odds ratio of 1.8 under the assumption of an additive model at type 1 error rate, alpha = 0.05.
authors.affiliation: Immunology group, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. drkmb@email.com
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Douroudis
authors.forename: Kalle
authors.initials: K
authors.lastname: Kisand
authors.forename: Virge
authors.initials: V
authors.lastname: Nemvalts
authors.forename: Tarvo
authors.initials: T
authors.lastname: Rajasalu
authors.forename: Raivo
authors.initials: R
authors.lastname: Uibo
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000945:Antigens, Differentiation, T-Lymphocyte / Q000235:genetics*; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004957:Estonia; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008285:Major Histocompatibility Complex / Q000235:genetics; D008297:Male; D008875:Middle Aged; D063210:N-Terminal Acetyltransferase B; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D044465:White People / Q000235:genetics*; D000098862:T Lineage-Specific Activation Antigen 1
chemical_list: D000945:Antigens, Differentiation, T-Lymphocyte; D000098862:T Lineage-Specific Activation Antigen 1; D018398:Homeodomain Proteins; C570949:NAA25 protein, human; C120706:PHTF1 protein, human; D011506:Proteins; D014157:Transcription Factors; D063210:N-Terminal Acetyltransferase B; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22