Wang G, Qian R, Li Q, Niu T, Chen C, Xu X
Department of Endocrinology, Third Affiliated Hospital of Beijing University, Beijing 100083, China.
Chin Med J (Engl). 2001 Dec;114(12):1258-62.
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.
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.
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).
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.
通过病例对照研究检测骨骼肌糖原相关蛋白磷酸酶1（PPP1R3）基因的糖原靶向调节亚基多态性与2型糖尿病之间的关系。
我们分别采用寡核苷酸连接分析法（OLA）和聚丙烯酰胺凝胶电泳，对101例2型糖尿病患者和101例对照者的PPP1R3基因Asp905Tyr多态性和常见的3'-非翻译区富含AT（AU）元件（ARE）多态性进行基因分型。
以体重指数（BMI）<25的Tyr/Tyr基因型受试者作为参照组。BMI≥25且携带Asp905的受试者患2型糖尿病的风险增加3.66倍（95%CI：1.48 - 9.06，P = 0.005）。未发现3'UTR ARE多态性与2型糖尿病之间存在关联（OR = 1.15；95%CI：0.62 - 2.14，P = 0.65）。
Asp905与BMI之间的联合作用增加了2型糖尿病的风险，且PPP1R3基因的Asp905Tyr和ARE多态性不是中国人群中主要的致糖尿病基因变异。
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