Rapid publication: a P387L variant in protein tyrosine phosphatase-1B (PTP-1B)is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro

摘要

In the present study, we tested the hypothesis that variability in the protein tyrosine phosphatase-1B (PTP-1B)gene is associated with type 2 diabetes. Using single-strand conformational polymorphism analysis, we examined cDNA of PTP-1B from 56 insulin-resistant patient with type 2 diabetes as well as cDNA from 56 obese patients. Four silent variants, (NT CGA→CGG) R199R,(NT CCC→CCT)P303P, 3'UTR + 10insG, and 3'UTR + 86T→G, and one missense variant P387L, were found. Subsequent analysis on genomic DNA revealed two intron variants, IVS9 + 57C→T and IVS9 + 58G→A, and two missense variants, G381S and T420M.