▪糖尿病分子生物学和遗传学·

　　【摘要】 目的 探讨我国汉族人群中mTOR基因的SNP位点(rs2295080)多态性与T2DM及其相关临床检验指标变化的相关性。 方法 采用病例对照研究，分别选取T2DM患者(T2DM组)213例和同期健康体检者(NC)248名。采用PCR-RFLP方法测定mTOR基因SNP位点(rs2295080)多态性分布，并进行统计分析。 结果 T2DM组SNP位点(rs2295080)基因型频率与NC组比较，差异有统计学意义(P=0.046)，等位基因T频率高于NC组(OR=1.493，95%CI:1.077～2.069，P=0.016)。T2DM组此位点多态性与FPG、HbA1c、HDL-C、LDL-C及TC无相关性(P>0.05)，与TG有相关性(P<0.05)。 结论 mTOR基因SNP位点多态性与T2DM发病相关，且在T2DM患者中SNP位点rs2295080多态性与TG水平相关。

　　【关键词】 mTOR基因;糖尿病，2型;基因多态性;临床特点

　　【Abstract】 Objective To investigate the association between rs2295080 polymorphisms in mTOR gene and type 2 diabetes mellitus (T2DM)， and its clinical characteristics in Han Chinese population. Methods A total of 213 subjects with T2DM and 248 healthy controls were enrolled in this case-control study. The genotype of mTOR SNP rs2295080 was detected by PCR-RFLP. All the data were analyzed. Results The genotype of rs2295080 was significantly different between T2DM and control group (P=0.046). The frequency of T allele was higher in T2DM group than control group(OR=1.493，95%CI:1.077～2.069, P=0.016). There were no association between rs2295080 polymorphism and FPG, HbA1c, HDL-C, LDL-C and TC(P>0.05), except triglyceride(P<0.05). Conclusion Rs2295080 was associated with T2DM and TG level in Han Chinese population.

　　【Key words】 Diabetes mellitus, type 2; mTOR gene; Polymorphisms; Clinical characteristic