title: Polymorphism in gene for islet autoantigen, IA-2, and type 1 diabetes in Japanese subjects.
abstract: Autoantibodies against IA-2 have been detected in up to 86% of newly diagnosed patients with type 1 diabetes and appear to identify a subgroup of prediabetic subjects who rapidly progress to type 1 diabetes. We examined the association of IA-2 gene polymorphism with type 1 diabetes in Japanese subjects. A total of 276 Japanese subjects were studied for disease association and, in addition, another 53 patients were studied for association with the autoantibody status to IA-2. A microsatellite marker D2S1753E, located in the intron of the IA-2 gene, was used as a genetic marker in this study. In Japanese, two alleles (161mu and 165mu) were more frequent, and the 163mu allele was less frequent than in Caucasians (p = 0.0001). There was no significant difference in frequencies of alleles between diabetic patients and control subjects. The frequency of IA-2 gene polymorphism was not significantly different between patients stratified by age-at-onset, or between patients with and without susceptible HLA, DRB1*0405, DRB1*0802 and DRB1*0901. There was no significant difference in allele frequency of the IA-2 gene polymorphism between patients with and without autoantibody to IA-2. In conclusion, IA-2 gene polymorphism is not associated with either susceptibility to, or heterogeneity in type 1 diabetes in Japanese subjects.
authors.affiliation: Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nishino
authors.forename: H
authors.initials: H
authors.lastname: Ikegami
authors.forename: Y
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: T
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kawabata
authors.forename: M
authors.initials: M
authors.lastname: Shintani
authors.forename: M
authors.initials: M
authors.lastname: Ono
authors.forename: M
authors.initials: M
authors.lastname: Horiki
authors.forename: E
authors.initials: E
authors.lastname: Kawasaki
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001323:Autoantibodies / Q000276:immunology; D001324:Autoantigens / Q000235:genetics* / Q000276:immunology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005787:Gene Frequency; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D007515:Islets of Langerhans; D007564:Japan; D008565:Membrane Proteins / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000276:immunology; D054635:Receptor-Like Protein Tyrosine Phosphatases, Class 8
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C096322:ICA512 autoantibody; D008565:Membrane Proteins; C516862:PTPRN protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases; D054635:Receptor-Like Protein Tyrosine Phosphatases, Class 8