PPP1R3基因3′端非翻译区5 bp缺失/插入多态性与2型糖尿病相关性研究

目的　研究 1型蛋白磷酸酶骨骼肌特异糖原靶向调节亚单位 (PPP1R3)基因 3′-非翻译区 5 bp缺失 /插入 (deletion/insertion,D/I)多态性与 2型糖尿病 (type 2 diabetes,T2 DM)的相关性。方法　选取安徽省合肥地区汉族 T2 DM患者 2 6 8例 ,正常对照 10 6名 ,用聚合酶链反应扩增片段长度多态性技术进行基因型测定。结果　 (1) PPP1R3基因 3′-非翻译区 5 bp D/I多态性的基因型及等位基因频率在 T2 DM与正常对照组间分布差异无显著性 (P>0 .0 5 )。(2 ) T2 DM或正常对照组中不同基因型间发病年龄、病程、空腹血糖、餐后 2 h血糖、空腹胰岛素、胰岛素敏感指数、体重指数、腰臀围比、收缩压、舒张压差异均无显著性 (P>0 .0 5 )。(3) PPP1R3基因 3′-非翻译区 5 bp D/I多态性频率与日本人群和加拿大人群相近。明显低于 Pima印第安人、瑞典的白人。结论　 PPP1R3基因 3′-非翻译区 5 bp D/I多态性与安徽省合肥地区 2型糖尿病发病无明显关联 ,具有明显的种族差异。

Study on association of PPP1R3 gene 5 bp deletion/insertion within 3′-untranslated region polymorphism with type 2 diabetes

OBJECTIVE:To determine whether the muscle-specific glycogen-targeting regulatory subunit of the glucogen bound protein phosphatase 1 (PPP1R3) gene 5 bp deletion/insertion(D/I) within 3'-untranslated region ( 3'-UTR) polymorphism is associated with type 2 diabetes in Chinese Han population in Hefei region of Anhui province. METHODS: The PPP1R3 gene 3'-UTR 5 bp D/I polymorphism was detected by polymerase chain reaction in 268 patients with type 2 diabetes and 106 normal controls. RESULTS:(1) The distributions of the frequency of three genotypes and two alleles of the PPP1R3 gene 5 bp D/I polymorphism showed no significant difference between the type 2 diabetic cases and the normal controls. (2) In both the cases and controls, there was no significant difference in age at onset, duration of disease, blood glucose, blood lipid profile, blood pressure, insulin sensitive index, body mass index, and waist hip ratio between the three genotypic groups(P 0.05). (3) The PPP1R3 gene 3'-UTR polymorphism in Chinese Han population in Hefei region of Anhui province was found to be similar to that in both Japanese population and Canadian population, and to be different from that in Piman Indians and the Caucasians in Sweden. CONCLUSION: The PPP1R3 gene 5 bp D/I within 3'-UTR polymorphism taking on genetic variation among the different races of mankind may not play a critical role in the development of type 2 diabetes mellitus in Chinese Hans of Hefei region in Anhui province.