A study of three polymorphic sites of the ADA gene in children with type 1 diabetes mellitus.
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.
Saccucci
P
P
Division of Biopathology of Human Polulation and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome "Tor Vergata ", Rome, Italy.
Meloni
G F
GF
Verrotti
A
A
Borgiani
P
P
D'Annibale
F
F
Giannini
C
C
Lucarelli
P
P
Bottini
N
N
Chiarelli
F
F
Bottini
E
E
Gloria-Bottini
F
F
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
C548482:ADA protein, human; D000243:Adenosine Deaminase