摘要目的应用病例对照分析法对骨骼肌糖原相关蛋白磷酸酶1的糖原靶调节亚单位基因多态性与2型糖尿病相关性进行研究。方法应用寡核苷酸连接测定技术和直接电泳的方法，对该基因的Asp905Tyr和3'非翻译区ARE多态性位点基因型进行了测定。结果 BMI25携带Asp905等位基因组能增加2型糖尿病的危险（OR=3.66; 95% CI: 1.48-9.06）；ARE多态性与2型糖尿病未见相关(OR=1.15; 95% CI: 0.62-2.14)。结论 Asp905协同肥胖增加2型糖尿病的危险。在中国人群中，该基因的Asp905Tyr和ARE多态性不是致糖尿病基因主要的变异。

abstractsObjective 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 101controls 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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.