新疆汉族人群SREBP-1c基因54G/C多态性与急性心肌梗死的相关性研究

Relationship between Genetic Polymorphism of Sterol Regulatory Element-Binding Protein-1c Gene of the Han Nationality and Patients with Acute Myocardial Infarction in Xinjiang

目的:探讨固醇调节元件结合蛋白-1c基因18号外显子54G/C基因多态性与新疆地区汉族人群心肌梗死的相关性。方法:采用聚合酶链反应-限制性片段长度多态性方法,对230例急性心肌梗死患者和212例健康受试者SREBP-1c基因18号外显子54G/C位点进行分析,同时进行血糖及血脂水平检测。数据处理利用PEMS for windows 3.1软件包完成,用Hardy-Weinberg平衡检验样本的群体代表性,各组基因型和等位基因频率差异比较用x^2检验,连续变量的比较用t检验。结果:SREBP-1c基因18号外显子54G/C在病例组和健康对照组中基因型频率分别为:CC型13.04%和4.25%,CG型34.78%和36.32%,GG52.17%和59.43%,两组CC基因型差异具有统计学意义(P<0.05),且病例组C等位基因频率高于对照组(P<0.05),而GC和GG基因型差异无统计学意义(P<0.05)。不同基因型间血糖、血脂水平差异具有统计学意义(P<0.05)。结论:CC基因型和等位基因C可能增加急性心肌梗死发生的风险,并可影响病人的血糖、甘油三酯代谢。

Objective： To investigate the relationship between the polymorphism of sterol regulatory element-binding protein-1c （ SREBP- 1c） gene and Han nationality normal testees with acute myocardial infarction （AMI） in XinJiang. Methods： SREBP- 1c gene of 230 patients with AMI and 212 healthy control subjects were amplified by polymerase chain reaction, and analyzed by restriction fragment length polymorphism. Plasma lipid level and sugar level were detected in all groups. Statistic analyses were performed with the PEMS for windows 3.1 statistic program package. All continuous variables were expressed as mean ± standard deviation. The gene counting method was used for estimating the allele and genotype frequencies in AMI group and normal group. The Hardy-Weinberg equilibrium for the frequencies of genotypes was tested by x^2 analysis, x^2 analysis was used for comparing the differences in the distribution of genotypes between patients and healthy control subjects. Other seriate variable Comparison between groups was performed by t test. Results： The genotype distribution of the control group and AMI group were in the Hardy-Weinberg equilibrium （x^2=2.25,2.48,P〈0.05）. The frequencies of CC, GC and GG were 13.04%, 34.78% and 52.17% in AMI group respectively. Comparatively that were 4.25%, 36.32% and 59.43% respectively in control group. There were significant differences in frequencies of CC genotype and C allele but no difference in frequencies of GC and GG genotypes between control and AMI group. Conclusion： The CC genotype and C allele of SREBP-lc may be risk factors of AMI, and significantly influence on the serum lipid level and sugar level of Han nationality population in XinJiang.