The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus

作     者：王国英 钱荣立 李琼芳 牛天华 陈常中 徐希平 Wang Guoying;NIU Tianhua;CHEN Changzhong;XU Xiping;LI Qiongfang

作者机构：北京大学第三医院内分泌科 北京大学第一医院内分泌科 The Channing LaboratoryDepartment of Me dicineBrigham and Women’s HospitalHarvard Medical SchoolBostonMA02115USA 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2001年第114卷第12期

页      面：26-30,102-103页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：type 2 diabetes mellitus  ·  PPP1R3 gene  ·  polymorphism 

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 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.