| Research Abstract |
We continued to analyze the genetics of type 1 diabetes in Japanese, and obtained the following results.
1. We already reported that G allele of the G49A polymorphism of the CTLA-4 gene was significantly increased in Japanese typical type 1 diabetes. In the present study, we found that G allele was significantly increased in patients who presented with diabetic ketoacidosis and patients who were positive for anti-IA-2 Ab.
2. Furthermore, as compared with type 1 diabetes patients or type 1 diabetes patients with anti-GAD Ab (+), G allele was significantly decreased in diabetic patients presenting the clinical characteristics of type 2 diabetes but anti-GAD Ab (+), suggesting that the CTLA-4 gene may modulate the onset and course of type 1 diabetes.
3. Although there was a report that the polymorphism of BETA2/NEUROD1, one of the transcription factors in pancreatic beta cells, was associated with type 1 diabetes, we could not confirm the association.
4. We found that amino acid variations of WFS1, which is the responsible gene for Wolfram syndrome (IDDM, DI, optic atrophy, deafness), were associated with type 1 diabetes in Japanese, suggesting that the WFS1 gene may have a role in the development of common type 1 diabetes as a nonautoimmune genetic basis.
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