The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus  

PPP1R3基因多态性与 2型糖尿病相关性研究(英文)

作　　者：王国英[1] 钱荣立[2] 李琼芳[1] 牛天华[1] 陈常中[1] 徐希平 

机构地区：[1]北京大学第三医院内分泌科 [2]北京大学第一医院内分泌科 [3]The Channing Laboratory,Department of Me dicine,Brigham and Women’s Hospital,Harvard Medical School,Boston,MA02115,USA

出　　处：《Chinese Medical Journal》2001年第12期26-30,102-103,共7页中华医学杂志（英文版）

摘　　要：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 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 BMI25 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.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Asp90 5Tyr和 3’非翻译区ARE多态性位点基因型进行了测定。结果　BMI 2 5携带Asp90 5等位基因组能增加 2型糖尿病的危险 (OR =3 6 6 ;95 %CI:1 4 8- 9 0 6 ) ;ARE多态性与 2型糖尿病未见相关 (OR =1 15 ;95 %CI:0 6 2 - 2 14)。结论　Asp90 5协同肥胖增加 2型糖尿病的危险。在中国人群中 ,该基因的Asp90 5Tyr和ARE多态性不是致糖尿病基因主要的变异。

关 键 词：type 2 diabetes mellitus  ·  PPP1R3 gene  ·  polymorphism 

分 类 号：R587.1[医药卫生—内分泌]