IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
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
2011-03-05
DOI10.3760/cma.j.issn.0366-6999.2011.05.017
124期:5页:725-728
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
资助者National Natural Science Fundation of China ; National Basic Research Program of China (973 program) ; National High Technology Research and Development Program (863 program) ; National Natural Science Fundation of China ; National Basic Research Program of China (973 program) ; National High Technology Research and Development Program (863 program)
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
英文摘要

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 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

语种英语
所属项目编号30570873 ; 30771031 ; 2006CB503900 ; 2006AA02A409
资助者National Natural Science Fundation of China ; National Basic Research Program of China (973 program) ; National High Technology Research and Development Program (863 program) ; National Natural Science Fundation of China ; National Basic Research Program of China (973 program) ; National High Technology Research and Development Program (863 program)
WOS记录号WOS:000289040600017
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59335
专题北京大学第二临床医学院
作者单位Peking Univ, Peoples Hosp, Dept Endocrinol & Metab, Ctr Diabet, Beijing 100044, Peoples R China
推荐引用方式
GB/T 7714
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.
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