The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus

VernacularTitle:PPP1R3基因多态性与2型糖尿病相关性研究
Author: Guoying WANG ¹ ; Tianhua NIU ; Changzhong CHEN ; Xiping XU ; Qiongfang LI
Author Information

1. Harvard School of Public Health
Keywords: type 2 diabetes mellitus; PPP1R3 gene; polymorphism
From: Chinese Medical Journal 2001;114(12):1258-1262
CountryChina
Language:Chinese
Abstract: 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.