【作者】 刘菊香； 胡正强； 刘静； 田利民； 郭茜； 马小琴； 刘佳； 高静媛； 张吉平；

【机构】 甘肃省肿瘤医院； 临夏市人民医院； 甘肃省人民医院内分泌科；

【摘要】 目的:固醇调节元件结合蛋白-1c(sterol regulatory element binding proteins-1c,SREBP-1c)是调节体内脂肪合成的一种很重要的核转录因子。SREBP-1c又称脂肪细胞定向和分化因子1(adipocyte diferentiation and determination factor-1,ADD-1),SREBP-1c能调控与脂肪酸和葡萄糖代谢有关的酶基因的表达,因此它与脂肪酸、甘油三酯和糖代谢有明显的关系。本研究旨在探讨固醇调节元件结合蛋白-1c(SREBP-1c)基因多态性rs2297508在甘肃东乡族人群中的分布及其与2型糖尿病和血脂的关系。方法:采用聚合酶链反应-变性高效液相色谱(PCR-DHPLC)方法,检测115例甘肃东乡族正常对照者和甘肃东乡族89例2型糖尿病患者基因型,并使用DNA序列测定以进一步明确基因型;以生化方法测定所有研究对象的血脂、血糖水平;使用放免法测定所有受试者的胰岛素水平。结果:(1)SREBP-1c基因rs2297508位点GG、GC、CC基因型频率在对照组和2型糖尿病组分别为0.58,0.37,0.04和0.49,0.35,0.16;等位基因G、C频率在对照组和2型糖尿病组分别为0.77,0.23和0.67,0.33。其基因型频率和等位基因频率在2型糖尿病组和对照组比较差异均有统计学意义(均P<0.05)。(2)与对照组比较,糖尿病组的TC、TG、LDL-C水平显著升高(P<0.05),两组间的HDL-C水平差异无统计学意义(P>0.05)(3)与对照组比较,糖尿病组C等位基因携带者(GC+CC)的TG水平和LDL-C水平显著高于GG基因型患者(P<0.01)。无论在对照组还是在糖尿病组,各基因型之间TC和HDL-C水平差异均没有统计学意义。结论:SREBP-1c基因多态性位点rs2297508与2型糖尿病相关,C等位基因可能是2型糖尿病发生发展的危险因素;并提示此多态性对东乡族人群血浆TG水平、LDL-C水平有影响,且C等位基因与血浆TG和LDL-c水平增高可能有关。更多还原

【Abstract】 Objective:To study the SREBP-1c gene single nucleotide polymorphism rs2297508 and its association with type 2 diabetes mellitus(T2DM) and blood lipids level in Dong xiang population in Gansu.Methods:Genotype of SREBP-lc was determined in 115 patients with T2 DM and 89 healthy controls by polymerase chain reaction-denaturing high-performance liquid chromatography(PCR-DHPLC).Plasma levels of lipids,glucose and insulin in these subjects were also estimated by biochemical methods.Results:(1) SREBP-lc genotype frequencies of GG,GC.CC were 0.49,0.35,0.16 in T2 DM group and 0.58,0.37,0.04 in control group respectively,and allele frequencies of G,C were 0.67,0.33 in T2 DM group and 0.77,0.23 in control group respectively.There were significant differences in frequencies of allele and genotype in the both groups(both P <0.05).(2) the Plasma levels of triglyceride(TG),Plasma levels of total cholesterol(TC) and low density lipoprotein cholesterol(LDL-c) in the DM group were significantly higher than the control group(P<0.05).However,there was no significance in Plasma High density lipoprotein(HDL-c) levels in both groups.(3) compared with the control group,the plasma levels of TG and LDL-c of allele C carriers(genotypes G/C and C/C) were significantly higher than the noncarriers(genotypes G/G)(P<0.01).Conclusion:The SNP rs2297508 of SREBP-lc gene is associated with type 2 DM and C allele appears to be a risk factor for type 2 DM in the population;The SNP was associated with the increase of Plasma TG and LDL-C level in the population.The C allele contributed to the increase of plasma levels of TG and LDL-c.更多还原