Objective In order to elucidate whether or not genetic variations of TSC-22
(TGF [transforming growth factor]P-stimulated clone 22), which was origina
lly identified as a TGF-beta -responsive leucine zipper protein in murine o
steoblastic cells, are associated with type 2 diabetes, the genomic organiz
ation of the human TSC-22 gene was determined and the association between i
ts polymorphisms and type 2 diabetes was examined.
Results The human TSC-22 gene spans approximately 5 kilobase pairs and is e
ncoded in three exons. Two single nucleotide polymorphisms (SNPs) were iden
tified 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, n
o significant differences in the frequency of these polymorphisms between p
atients with type 2 diabetes and non-diabetic control subjects.
Conclusion It is unlikely that the TSC-22 gene is a locus responsible for t
ype 2 diabetes.