Human TSC-22 Gene: No Association with Type 2 Diabetes

Objective In order to elucidate whether or not genetic variations of TSC-22 (TGF [transforming growth factor]-β-stimulated clone 22), which was originally identified as a TGF-β-responsive leucine zipper protein in murine osteoblastic cells, are associated with type 2 diabetes, the genomic organization of the human TSC-22 gene was determined and the association between its polymorphisms and type 2 diabetes was examined. Results The human TSC-22 gene spans approximately 5 kilobase pairs and is encoded in three exons. Two single nucleotide polymorphisms (SNPs) were identified in the coding region of the first exon, two other SNPs in the first intron, and one SNP in the putative promoter region. There were, however, no significant differences in the frequency of these polymorphisms between patients with type 2 diabetes and non-diabetic control subjects. Conclusion It is unlikely that the TSC-22 gene is a locus responsible for type 2 diabetes.(Internal Medicine 40: 993-997, 2001)