LKB1基因多态性与2型糖尿病相关性研究  

Research on the Association between LKB1 Gene Polymorphism and Type 2 Diabetes Mellitus

作　　者：张娜娜[1] 王琼[1] 石敏[1] 许静[2] 姚孝礼[2] ZHANG Na-na1, WANG Qiong1, Sill Min1, XU Jing2, YAO Xiao-li2(1 The endocrinology and metabolism department of Xijing Hospital affiliated to The fourth military medical universitym Xi＇an, Shaanxi, 710032, China; 2 The endocrinology department of the First Affiliated Hospital of Xi＇an Jiaotong University, Xi＇an, Shaanxi, 710061, Chin)

机构地区：[1]第四军医大学西京医院内分泌代谢科,陕西西安710032 [2]西安交通大学第一附属医院内分泌科,陕西西安710061

出　　处：《现代生物医学进展》2018年第3期504-508,527,共6页Progress in Modern Biomedicine

基　　金：陕西省自然科学基金项目(2014JM4195)

摘　　要：目的:探讨陕西汉族人群中LKB1基因位点rs741765(380C>T)及rs6510599(459G>A)单核苷酸多态性(SNPs)与2型糖尿病遗传易感性及相关临床代谢指标的关系。方法:采用等位基因特异性引物PCR(SASP-PCR)对2型糖尿病患者130例及健康对照组100例进行LKB1基因内含子6 rs741765(380C>T)及内含子1 rs6510599(459G>A)两个位点进行基因多态性筛查,并测序鉴定,分析其基因多态性位点与2型糖尿病临床代谢指标关系。结果:rs741765(380C>T)基因突变情况:2型糖尿病患者TT基因型频率显著高于健康对照组(P=0.023);TT基因2型糖尿病组中糖化血红蛋白水平及低密度脂蛋白胆固醇水平在型中明显升高(P=0.030;P=0.002);健康对照组中,空腹血糖水平在TT基因型中明显升高(P=0.011)。rs6510599(459G>A)基因突变情况:AA基因型频率在2型糖尿病组及健康对照组间无显著性差异(P>0.05);该基因位点与临床指标亦无相关性(P>0.05)。结论:陕西汉族人群中LKB1基因内含子6 rs741765(380C>T)及内含子1 rs6510599(459G>A)存在基因多态性。LKB1基因内含子6 rs741765(380C>T)基因多态性与2型糖尿病的发病有相关性。LKB1基因内含子1 rs6510599(459G>A)基因多态性与2型糖尿病的发病无相关性。Objective： To explore the association between the two single nucleotide polymorphisms （SNPs） of LKB 1 （Live kinase B1） gene rs741765 （380C〉T） and rs6510599 （459G〉A） with type 2 diabetes mellitus （T2DM） and clinical and metabolic traits in Han people from Shanxi, China. Methods： A single allele specific prime polyruerase chain reaction （SASP-PCR） was used to screen the SNP of LKBlgene rs741765 （380C〉T） and rs6510599 （459G〉A） in 130 cases of T2DM and 100 cases of normal control group, and sequenced the PCR products. Analyzed the single nucleotide polymorphisms with related clinical and metabolic traits. Results： LKBI gene rs741765 （380C〉T） mutation： TT genotype frequencies were higher in T2DM group than in normal control group （P=0.023）. The level of HbAlc and LDL-c were higher in TT genotype than in other genotype in T2DM group （P=0.030; P=0.002）. The level of FPG was higher in TT genotype than in other genotype in normal control group （P=0.011）. rs6510599 （459G〉A） mutation： There were no significant differences in AA genotye frequencies between T2DM group and normal control group （P〉0.05）. rs6510599 （459G〉A） was not correlated with clinical traits （P〉0.05）. Conclusion： There were SNPs in rs741765 （380C〉T） and rs6510599 （459G〉A） in the population of Shanxi province. LKBI gene rs741765 （380C〉T） was significantly correlated with T2DM in the population of Shanxi province; rs6510599 （459G〉A） SNP was not correlated with T2DM in the population of Shanxi province.

关 键 词：LKB1 单核苷酸多态性 等位基因特异性引物 2型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]