Analysis of the insulin-sensitive phosphodiesterase 3B gene in type 2 diabetes

We screened for mutations in the gene of insulin-sensitive phosphodiesteras e 3B (PDE3B), which regulates antilipolytic actions of insulin via reductio n of intracellular cyclic AMP levels, in Japanese patients with type 2 diab etes mellitus and lipoatrophic diabetes mellitus using single-stranded conf ormation polymorphism analysis and Southern analysis and investigated frequ encies of variable number of tandem repeats. A silent polymorphism at the A rg(463) codon (AGG --> AGA) in exon 4 was identified after examining all 16 exons and exon-intron splicing junctions of the gene. This polymorphism wa s found in 53 of 100 subjects with type 2 diabetes mellitus, 2 of 5 lipoatr ophic diabetic patients and 24 of 50 control subjects, without any signific ant difference in allele frequency between groups. An EcoRI restriction fra gment length polymorphism was identified in patients with type 2 diabetes m ellitus and control subjects, again with no differences in occurrence. The allelic distribution of two polymorphic tandem repeats sequences in introns 5 and 12 of the gene did not differ significantly between patients with ty pe 2 diabetes mellitus and control subjects. In conclusion, alterations in the PDE3B gene are unlikely to contribute importantly to the pathogenesis o f type 2 diabetes mellitus or lipoatrophic diabetes mellitus in Japan. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.