title: [Programmed cell death 1 (PDCD1) gene polymorphisms and type 1 diabetes in Chilean children].
abstract: BACKGROUND
  Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis.
  
  
  OBJECTIVE
  To analyze four gene polymorphisms of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D).
  
  
  METHODS
  We analyzed 160 cases with T1D of recent diagnosis aged 9.5 +/- 3.3 years and 160 control children aged 10.7 +/- 3.1 years. Four genetic variants of PDCD-1 gene were studied (PD1.2; PD1.5; PD1.6 and PD1.9) by polymerase chain reaction and restriction enzymes. Autoantibodies GAD65 and anti-IA-2 were also measured in all studied children. The comparison of allelic and genotypic frequency and consistency with respect to Hardy-Weinberg equilibrium test were analyzed using Chi-square and Fisher exact test.
  
  
  RESULTS
  No differences between cases and controls were observed for PDCD1.2; PDCD1.5 and PDCD1.9 polymorphisms. PDCD1.6 polymorphism (carriers of allele A) had a higher frequency in the control group (0.794 versus 0.644, p < 0.017). There was no particular association of these polymorphisms with anti- GAD65 and anti-IA-2 antibodies among patients with T1D.
  
  
  CONCLUSIONS
  Only PDCD1.6 polymorphism showed differences between T1D cases and controls. Possibly, none of these genetic variants of PDCD1 has a relevant role as a marker for T1D in the Chilean population.
authors.affiliation: Laboratorio de Genómica Nutricional, Departamento de Nutrición, Facultad de Medicina, Universidad de Chile, Chile.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Flores
authors.forename: Megan
authors.initials: M
authors.lastname: Beems
authors.forename: Amaya
authors.initials: A
authors.lastname: Oyarzún
authors.forename: Elena
authors.initials: E
authors.lastname: Carrasco
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez
mesh_terms: D000293:Adolescent; D000906:Antibodies / Q000097:blood; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics*; D002648:Child; D002677:Chile; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D061026:Programmed Cell Death 1 Receptor
chemical_list: D000906:Antibodies; D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor