PPP1R3基因Asp905Tyr多态性与安徽汉族人2型糖尿病相关性研究

Correlation Study of PPP1R3 Gene Polymorphism With Type 2 Diabetes in Han Population of Anhui Province

目的研究 1型蛋白磷酸酶骨骼肌特异的糖原靶向调节亚单位基因 (PPP1R3) Asp90 5 Tyr多态性与安徽汉族人 2型糖尿病 (T2 DM)相关性。方法选取安徽省合肥地区汉族 T2 DM患者 2 6 2例 ,健康成人 10 4例 ,运用聚合酶链反应限制性酶切片段长度多态性技术 (PCR- RFL P)进行基因型测定。以体质指数 (BMI) 2 5为分割点 ,将病例组和对照组进行分层分析。结果 1PPP1R3基因 Asp90 5 Tyr多态性与安徽汉族人 2型糖尿病没有明显的相关性。 2以 BMI<2 5基因型Tyr/ Tyr组为参照组 ,BMI≥ 2 5携有 Asp90 5等位基因个体的糖尿病发病风险明显增加 (OR=3.6 9;95 % CI:1.38～ 8.89;P=0 .0 0 6 )。结论 PPP1R3基因 Asp 90 5 Tyr多态性可能不是安徽省汉族人 2型糖尿病主要的致病因素。肥胖与 Asp90 5等位基因间的交互作用可增加糖尿病的发病风险。

Objective To study the association of muscle-specific glycogen-targeting regulatory subunit of the glucogen-bound protein phosphatase 1(PPP1R3)gene codon 905 Asp/Tyr polymorphism with type 2 diabetes in Chinese Han population in Hefei of Anhui province. Methods The PPP1R3 gene Asp905 Tyr polymorphism was detected by polymerase chain reaction and appropriate restriction enzyme (PCR-RFLP)in 262 cases with type 2 diabetic mellitus (T2DM)and 104 normal controls.Case group and control group were divided into subgroups by body mass index(BMI)25. Results ① The PPP1R3 gene Asp905Tyr polymorphism was not significantly associated with the risk of type2 diabetes mellitus.②Subjects with Tyr/Tyr genotypes whose BMI<25 were used as the reference group.Those whose BMI≥25 with Asp905 had a 3.69-fold increase in T2DM risk(OR=3.69,95%CI:1.38～8.89,P=0.006). Conclusion The PPP1R3 gene Asp905 Tyr polymorphism may not play a critical role in the development of T2DM in Han population of Chinese in Anhui province.Interaction between the Asp905 and BMI increase the risk of type2 diabetes.