title: A study of three polymorphic sites of the ADA gene in children with type 1 diabetes mellitus.
abstract: BACKGROUND
  Adenosine deaminase is a polymorphic enzyme that has an important role in immune functions and in the regulation of intracellular and extracellular concentrations of adenosine and adenosine receptor activity.
  
  
  OBJECTIVE
  To search for possible association of type 1 diabetes mellitus (DM1) with three loci haplotypes (ADA1, ADA2, ADA6) of the adenosine deaminase gene.
  
  
  METHODS
  One hundred and eighty-nine consecutive children with DM1 from Sassari, Sardinia, and a control sample of 239 children from the same area were studied.
  
  
  METHODS
  ADA loci genotypes were determined by DNA analysis.
  
  
  RESULTS
  Compared to controls, diabetic boys show a decrease of the 2(2)/6(1) haplotype while diabetic girls show an increase of the same haplotype. This association was replicated in an independent sample from Continental Italy.
  
  
  CONCLUSIONS
  The 2(2)/6(1) haplotype may exert a protective action in males but may increase susceptibility to DM1 in females: OR = 0.398, 95% CI 0.16-0.96 for males, and OR = 2.31, 95% CI 1.32-4.06 for females.
authors.affiliation: Division of Biopathology of Human Polulation and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome "Tor Vergata ", Rome, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Saccucci
authors.forename: G F
authors.initials: GF
authors.lastname: Meloni
authors.forename: A
authors.initials: A
authors.lastname: Verrotti
authors.forename: P
authors.initials: P
authors.lastname: Borgiani
authors.forename: F
authors.initials: F
authors.lastname: D'Annibale
authors.forename: C
authors.initials: C
authors.lastname: Giannini
authors.forename: P
authors.initials: P
authors.lastname: Lucarelli
authors.forename: N
authors.initials: N
authors.lastname: Bottini
authors.forename: F
authors.initials: F
authors.lastname: Chiarelli
authors.forename: E
authors.initials: E
authors.lastname: Bottini
authors.forename: F
authors.initials: F
authors.lastname: Gloria-Bottini
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012727:Sex Characteristics
chemical_list: C548482:ADA protein, human; D000243:Adenosine Deaminase