Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population  

作　　者：SUN Xiu-qin LUO Ying-ying AN Ling-wang CHU Lin HUO Li-li HAN Xue-yao ZHOU Xiang-hai REN Qian JI Li-nong 

机构地区：[1]Department of Endocrinology and Metabolism, Peking University Diabetes Center, Peking University People's Hospital, Beijing 100044, China

出　　处：《Chinese Medical Journal》2011年第5期725-728,共4页中华医学杂志（英文版）

摘　　要：Background The Akt2 protein kinase is thought to be a key mediator of the insulin signal transduction process. Akt2 is suggested to play a role in glucose metabolism and the development or maintenance of proper adipose tissue and islet mass. In order to determine whether the Akt2 gene plays a role in the pathogenesis of type 2 diabetes characterized by insulin resistance, and to further identify if variations in this gene have a relationship with type 2 diabetes, we sequenced the entire coding region and splice junctions of Akt2 and made a further case-control study to explore the association between sinclle-nucleotide polvmorphisms （SNPs） in this Qene and type 2 diabetes in the Chinese Han population.Methods We selected 23 probands with a type 2 diabetic pedigree whose family members＇ average onset age was within 25 to 45 years old. The body mass index of all the participants was lower than 28 kg/m2 and all of them were insulin-resistant （the fasting insulin level 〉100 pmol/L or 16 μlU/ml）. The entire coding region and splice junctions of Akt2 were directly sequenced in these 23 probands, SNPs with a frequency of minor allele over 20 percent were selected to be further studied in a case-control study, We chose 743 non-diabetic subjects as the control group and 742 type 2 diabetic patients as the case group, All these subjects were genotyped. A Snapshot Technology Platform （Applied Biosystems） was used for genotyping.Results The Akt2 genes from all 23 subjects were successfully sequenced. We did not identify any mutation in the type 2 diabetic pedigree. Two SNPs were identified, 13010323T〉C and 13007939G〉T. 13010323T〉C was in intron 9, which was the location of rs2304188 reported in Genbank. Its minor allele frequency was 13.04%. 13007939G〉T was in the 3＇-untranslated region （UTR） of exon 14, which was the location of rs2304186 reported in Genbank. Its minor allele frequency was 34.78%. The allele frequency of rs2304188 and rs2304186 were consistent with the frequency reported in GeBackground The Akt2 protein kinase is thought to be a key mediator of the insulin signal transduction process. Akt2 is suggested to play a role in glucose metabolism and the development or maintenance of proper adipose tissue and islet mass. In order to determine whether the Akt2 gene plays a role in the pathogenesis of type 2 diabetes characterized by insulin resistance, and to further identify if variations in this gene have a relationship with type 2 diabetes, we sequenced the entire coding region and splice junctions of Akt2 and made a further case-control study to explore the association between sinclle-nucleotide polvmorphisms （SNPs） in this Qene and type 2 diabetes in the Chinese Han population.Methods We selected 23 probands with a type 2 diabetic pedigree whose family members＇ average onset age was within 25 to 45 years old. The body mass index of all the participants was lower than 28 kg/m2 and all of them were insulin-resistant （the fasting insulin level 〉100 pmol/L or 16 μlU/ml）. The entire coding region and splice junctions of Akt2 were directly sequenced in these 23 probands, SNPs with a frequency of minor allele over 20 percent were selected to be further studied in a case-control study, We chose 743 non-diabetic subjects as the control group and 742 type 2 diabetic patients as the case group, All these subjects were genotyped. A Snapshot Technology Platform （Applied Biosystems） was used for genotyping.Results The Akt2 genes from all 23 subjects were successfully sequenced. We did not identify any mutation in the type 2 diabetic pedigree. Two SNPs were identified, 13010323T〉C and 13007939G〉T. 13010323T〉C was in intron 9, which was the location of rs2304188 reported in Genbank. Its minor allele frequency was 13.04%. 13007939G〉T was in the 3＇-untranslated region （UTR） of exon 14, which was the location of rs2304186 reported in Genbank. Its minor allele frequency was 34.78%. The allele frequency of rs2304188 and rs2304186 were consistent with the frequency reported in Ge

关 键 词：diabetes mellitus Chinese Han Akt2 protein kinase insulin resistance 

分 类 号：Q347[生物学—遗传学] Q75