|Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population|
|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|
|关键词||diabetes mellitus Chinese Han Akt2 protein kinase insulin resistance|
|刊名||CHINESE MEDICAL JOURNAL|
|WOS标题词||Science & Technology|
|类目[WOS]||Medicine, General & Internal|
|研究领域[WOS]||General & Internal Medicine|
|关键词[WOS]||SEVERE INSULIN-RESISTANCE ; PROTEIN-KINASE B ; MICE LACKING ; GLUCOSE ; AKT2/PKB-BETA ; ACTIVATION ; MELLITUS ; BETA|
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 single-nucleotide polymorphisms (SNPs) in this gene 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/m(2) and all of them were insulin-resistant (the fasting insulin level >100 pmol/L or 16 mu lU/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 Genbank. In the case-control study with 742 patients and 743 controls, there was no significant difference between the two groups for the allele frequency of rs2304186 (odd ratio: 0.96, 95% confidence interval: 0.82-1.12, P=0.597).
Conclusions The Akt2 gene is not a major cause of diabetes in a non-obese Chinese Han population characterized by insulin resistance. There is no significant relationship between rs2304186 and type 2 diabetes in the Chinese Han population. Chin Med J 2011;124(5):725-728
|项目编号||30570873 ; 30771031 ; 2006CB503900 ; 2006AA02A409|
|资助机构||National Natural Science Fundation of China ; National Basic Research Program of China (973 program) ; National High Technology Research and Development Program (863 program)|
|作者单位||Peking Univ, Peoples Hosp, Dept Endocrinol & Metab, Ctr Diabet, Beijing 100044, Peoples R China|
|Sun Xiu-qin,Luo Ying-ying,An Ling-wang,et al. Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population[J]. CHINESE MEDICAL JOURNAL,2011,124(5):725-728.|
|APA||Sun Xiu-qin.,Luo Ying-ying.,An Ling-wang.,Chu Lin.,Huo Li-li.,...&Ji Li-nong.(2011).Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population.CHINESE MEDICAL JOURNAL,124(5),725-728.|
|MLA||Sun Xiu-qin,et al."Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population".CHINESE MEDICAL JOURNAL 124.5(2011):725-728.|