·糖尿病分子生物学和遗传学·　　

PRKAA2基因rs2051040多态性与东乡族2型糖尿病、脂代谢及体质指数关系的研究

　　张吉平 刘佳 高静媛 刘菊香 刘静

　　【摘要】 目的 探讨PRKAA2基因rs2051040多态性与东乡族T2DM发病风险及脂代谢的关系。 方法 运用高效变性液相色谱技术检测218例东乡族人群中PRKAA2基因rs2051040多态性，其中T2DM(T2DM组)104例，健康人群(NC组)114名。分析该多态性位点基因型及等位基因频率与T2DM的关系，比较不同基因型间生化指标的差异。 结果 rs2051040多态性位点的基因型和等位基因频率两组中差异无统计学意义，但T2DM组中rs2051040多态性与HDL-C及BMI相关。 结论 rs2051040多态性位点与东乡族T2DM的发生无直接相关性，但与T2DM患者血脂和T2DM相关。

　　【关键词】 东乡族;糖尿病，2型;单核苷酸多态性;PRKAA2

Association of PRKAA2 Gene rs2051040 polymorphism with type 2 diabetes mellitus and lipid metabolism in Dongxiang population ZHANG Ji-ping, LIU Jia, GAO Jing-yuan, et al. Department of Endocrinology, The First Municipal People’s Hospital of Lianyungang, Lianyungang 222000, China

　　【Abstract】 Objective To explore the possible association of PRKAA2 Gene rs2051040 polymorphism with the risk of incidence of type 2 diabetes mellitus as well as lipid metabolic disturbance in Dongxiang population. Methods Denaturing high performance liquid chromatography (DHPLC) was used to detect the rs2051040 polymorphism in PRKAA2 gene in Dongxiang population. Of the 218 subjects, there were 104 cases with T2DM (T2DM group) and 114 normal controls (NC group). The association of rs2051040 genotypes and the allele frequency with T2DM was analyzed, and the difference of biochemical indicators among variant genotypes was compared. Results The distribution of genotypes and allele frequencies of rs2451040 locus was not significantly different between the two groups. In the T2DM group, the rs2051040 polymorphism was associated with HDL-C and BMI. Conclusion The rs2051040 polymorphism in PRKAA2 gene is not directly associated with the incidence of T2DM in Dongxiang population, but associated with the serum lipid level and body mass index of T2DM patients.

　　【Key words】 Dongxiang ethnic group; Diabetes mellitus, type 2; Single nucleotide polymorphism; PRKAA2