Objective: To detect the relationship between the polymorphism of the glycogen-targeting regulatory subunit of the skeletal muscle glycogen-associated protein phosphatase 1 (PPP1R3) gene and type 2 diabetes by case-control study.
Methods: We genotyped the PPP1R3 gene Asp905Tyr polymorphism and a common 3'-untranslated region AT (AU)-rich element (ARE) polymorphism in 101 type 2 diabetic patients and 101 controls by oligonucleotide ligation assay (OLA) and polyacrylamide gel elecrophoresis, respectively.
Results: Subjects with Tyr/Tyr genotypes whose body mass index (BMI) < 25 were used as the reference group. Those whose BMI > or = 25 with Asp905 had a 3.66-fold increase (95% CI: 1.48-9.06, P = 0.005) in type 2 diabetes risk. No association was found between 3'UTR ARE polymorphism and type 2 diabetes mellitus (OR = 1.15; 95% CI: 0.62-2.14, P = 0.65).
Conclusion: A joint effect between the Asp905 and BMI increases the risk of type 2 diabetes, and Asp905Tyr and ARE polymorphism of PPP1R3 gene are not the major diabetogenic gene variants in Chinese population.