LKB1基因多态性与2型糖尿病相关性研究

目的:探讨陕西汉族人群中LKB1基因位点rs741765(380CT)及rs6510599(459GA)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(380CT)及内含子1 rs6510599(459GA)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(380CT)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(459GA)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(P0.05);该基因位点与临床指标亦无相关性(P0.05)。结论:陕西汉族人群中LKB1基因内含子6 rs741765(380CT)及内含子1 rs6510599(459GA)存在基因多态性。LKB1基因内含子6 rs741765(380CT)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(459GA)基因多态性与2型糖尿病的发病无相关性。

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

ABSTRACT Objective: To explore the association between the two single nucleotide polymorphisms (SNPs) of LKB1 (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 polymerase chain reaction (SASP-PCR) was used to screen the SNP of LKB1gene rs741765 (380C>T) and rs6510599 (459G>A) in 130 cases of T2DM and 100 cases of normal control group, and se- quenced the PCR products. A nalyzed the single nucleotide polymorphisms with related clinical and metabolic traits. Results: LKB1 gene rs741765 (380C>T) mutation: TT genotype frequencies were higher in T2DM group than in normal control group (P=0.023). The level of HbA1c 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 dif- ferences 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. LKB1 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.