title: Pancreatic autoantibodies, HLA DR and PTPN22 polymorphisms in first degree relatives of patients with type 1 diabetes and multiethnic background.
abstract: OBJECTIVE
  To evaluate the prevalence of pancreatic auto-antibodies (PAb) as well as its relationship with HLA DR B1 and PTPN22 polymorphisms in first degree relatives (FDR) of Brazilian patients with Type 1 diabetes (T1D) and multiethnic background.
  
  
  METHODS
  FDR of patients with T1D were interviewed and blood was sampled for PAb measurement, HLA DRB1 and PTPN22 genotyping. Genotyping was also performed in index cases.
  
  
  RESULTS
  In FDR (n=78), 16.7% presented at least one PAb. These individuals had a higher prevalence of HLA DRB1* 03 than others (p=0.03), without differences in PTPN22 genotyping. While the genetic profile was similar in FDR with PAb and their index cases, those without PAb had a lower frequency of HLA DR B1 * 03 than their correspondent patients (p=0.009).
  
  
  CONCLUSIONS
  In this multiethnic population, a significant proportion of FDR of T1D patients had PAb, which was associated with HLA DR B1 * 03 but not with the PTPN22 polymorphism.
authors: Nutrology Section, Universidade Federal do Rio de Janeiro, Rio de Janeiro/RJ, Brazil.
authors: B
authors: B
authors: Barone
authors: J R
authors: JR
authors: Dantas
authors: M H
authors: MH
authors: Almeida
authors: B S
authors: BS
authors: Anna-Gomes
authors: M D R
authors: MD
authors: Bencke-Gongalves
authors: M S
authors: MS
authors: Albernaz
authors: M R
authors: MR
authors: Rodrigues
authors: L
authors: L
authors: Zajdenverg
authors: R
authors: R
authors: Kupfer
authors: A
authors: A
authors: Milech
authors: M
authors: M
authors: Rodacki
authors: J E P
authors: JE
authors: Oliveira
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000032:analysis*; D001938:Brazil; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000208:ethnology / Q000235:genetics* / Q000276:immunology*; D005192:Family Health / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005968:Glutamate Decarboxylase / Q000037:antagonists & inhibitors; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D007330:Insulin Antibodies / Q000032:analysis; D008297:Male; D010179:Pancreas / Q000201:enzymology / Q000378:metabolism; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000037:antagonists & inhibitors; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D059811:HLA-DRB1 Chains; C527195:HLA-DRB1*04 antigen; D007330:Insulin Antibodies; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases; D005968:Glutamate Decarboxylase