Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients.
The Osteopontin (OPN) encoding gene, SPP1, can be considered as a candidate for genetic susceptibility to type 1 diabetes (T1D) because of its known function in immune response and inflammation. This work aimed to evaluate the role of SPP1 gene in susceptibility to T1D. Patients (238: 130 male, 108 female) and unaffected adult control individuals (137: 68 males and 69 females) have been genotyped for three variants in the SPP1 gene: -156 (G/GG) and -66 (T/G) in the promoter and a biallelic ins/del variant (TG/TGTG) at +245 in the first intron. The G allele at the -66 SNP had significantly higher frequency in controls than T1D patients. Interestingly, case-control comparison in males showed no significant association, whereas the association was confirmed in females. These results suggest that SPP1 can play a role as susceptibility gene, possibly by a sex-specific mechanism acting in the autoimmune process.
Marciano
Renato
R
Laboratory of Molecular Genetics, G. Gaslini Institute, Genova, Italy.
D'Annunzio
Giuseppe
G
Minuto
Nicola
N
Pasquali
Lorenzo
L
Santamaria
Andrea
A
Di Duca
Marco
M
Ravazzolo
Roberto
R
Lorini
Renata
R
D000293:Adolescent; D000483:Alleles; D001323:Autoantibodies / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000097:blood; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000097:blood; D053495:Osteopontin / Q000235:genetics* / Q000276:immunology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D001323:Autoantibodies; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D008562:Membrane Glycoproteins; C506895:SPP1 protein, human; D053495:Osteopontin; D004247:DNA