PKBα／Akt1基因多态性与2型糖尿病的相关性研究  

Association of PKBα/Akt1 gene polymorphism with type 2 diabetes mellitus

作　　者：许丽红[1] 骆天红[1] 赵萸[1] 钱镭[1] 张芹[1] 李文毅[1] 张宏利[1] 徐佳[1] 简蔚霞[1] 郑升[1] 张贤玲[1] 李果[1] 

机构地区：[1]上海市内分泌代谢病研究所,上海交通大学医学院附属瑞金医院内分泌代谢科,上海市内分泌代谢病临床医学中心,200025

出　　处：《中华内分泌代谢杂志》2008年第1期62-65,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家973项目子课题（2004CB518602）;国家自然科学基金（30470817）;国家教委优秀博士论文（200360）;上海市重点学科资助（Y0204）;罗氏公司合作课题

摘　　要：目的研究蛋白激酶Bα亚型（PKBα，也称Akt1）基因单核苷酸多态性（SNP）与上海地区汉族人群2型糖尿病易感性的关系。方法利用等位基因特异PCR技术对460例2型糖尿病患者及444名正常对照者（NC组）Akt1基因3个标签SNP位点rs2494743、rs2494738和rs3001371进行基因分型。结果位点rs2494738和rs3001371的基因型分布在糖尿病组和NC组之间呈现显著性差异（均P〈0．01）；rs2494738和rs3001371等位基因频率在2型糖尿病组和NC组的分布也呈现显著性差异（均P〈0．01）；rs2494738的多态性与2型糖尿病发生风险呈等位基因计量效应关系。但rs2494743基因型和等位基因分布在NC组与2型糖尿病组中差异无统计学意义。单倍型分析结果显示3个单倍型频率在2型糖尿病组和NC组之间也存在显著差异（均P〈0．01）。结论在上海地区的汉族人群中，Akt1基因可能是2型糖尿病的易感基因之一；其SNP位点rs2494738和rs3001371变异可能与2型糖尿病发病相关。Objective To study the association of single nucleotide polymorphism （SNP） in protein kinase Bct subunit （also known as Aktl ） with type 2 diabetes mellitus （DM） in Han population in Shanghai, Methods Allele-specific real-time PCR method was used to determine the distributions of allele and genotype frequencies of three SNPs （ rs2494743, rs3001371, and rs2494738） of Aktl gene in 460 type 2 DM patients and 444 normal control subjects （NC）. Results As for rs2494738 and rs3001371, significant distribution differences were found between NC group and DM group （ all P 〈 0. 01 ）. The allele frequencies of both rs2A94738 and rs3001371 were found significantly different between DM group and NC group （ all P 〈 0.01 ）. The risk of susceptibility increased with the number of variant allele of rs2494738. But the distribution of genotypos and allele frequencies of the SNP rs2494743 were not different in DM group and NC group. The haplotypo analysis showed that the frequencies of three haplotypes were also significantly different between DM group and NC group （ all P 〈 0.01 ）. Conclusion These data suggest that the gene polymorphism of Aktl may be associated with the pathogenesis of type 2 diabetes in Chinese Han population in Shanghai; the SNP rs2A94738 and rs3001371 of Aktl gene are probably associated with type 2 DM.

关 键 词：糖尿病 2型 AKT1 易感性 基因 多态性 单核苷酸 

分 类 号：R587.1[医药卫生—内分泌]