Study on association of PPP1R3 gene 5 bp deletion/insertion within 3'-untranslated region polymorphism with type 2 diabetes / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>(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.</p><p><b>CONCLUSION</b>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.</p>