Chen Ming-wei, Yang Ming-gong, Wang Chang-jiang, Xu Xi-ping, Wang You-min, Liu Shu-qin, Zhang Qiu, Sun Hai-yan
Department of Endocrinology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):29-31.
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.
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.
(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.
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.
确定糖原结合蛋白磷酸酶1（PPP1R3）基因3'-非翻译区（3'-UTR）中5bp缺失/插入（D/I）多态性，即肌肉特异性糖原靶向调节亚基，是否与安徽省合肥市地区汉族人群的2型糖尿病相关。
采用聚合酶链反应检测268例2型糖尿病患者和106例正常对照者的PPP1R3基因3'-UTR 5bp D/I多态性。
（1）PPP1R3基因5bp D/I多态性的三种基因型和两个等位基因频率分布在2型糖尿病患者和正常对照之间无显著差异。（2）在病例组和对照组中，三个基因型组之间的发病年龄、病程、血糖、血脂谱、血压、胰岛素敏感指数、体重指数和腰臀比均无显著差异（P>0.05）。（3）发现安徽省合肥市地区汉族人群的PPP1R3基因3'-UTR多态性与日本人群和加拿大人群相似，与皮马印第安人和瑞典高加索人不同。
PPP1R3基因3'-UTR中5bp D/I多态性在不同种族间存在遗传差异，可能在安徽省合肥市地区汉族人群2型糖尿病的发生发展中不起关键作用。
