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目的:探讨中国汉族人群微粒体甘油三酯转运蛋白(microsomal triglyceride transfer protein,MTP)-493G/T基因多态性与冠心病患病风险的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,测定335例非糖尿病冠心病患者和206例无冠心病对照者MTP-493G/T基因多态性。比较两组MTP-493G/T的基因型与等位基因频率的差别,同时观察MTP-493G/T对血脂参数的影响。结果:在中国江苏汉族人群中发现三种基因型,GG型发生频率最高,GT型次之,TT型发生频率最低。冠心病组TT基因型频率(6%)高于对照组(3%)(P<0.05),且T等位基因频率(19%)亦明显高于对照组(12%)(P<0.01)。各基因型与冠状动脉病变支数无明显相关性。TT基因型TG、LDL-C水平高于GG型(P<0.05),而TC、HDL-C和LP(a)水平在两者间无统计学差异(P>0.05)。多因素Logistic回归分析显示TT基因型的OR值为2.14(95%CI1.22～6.56,P=0.014),是独立的危险因素,不依赖TT基因型升高TG、LDL-C的作用。结论:微粒体甘油三酯转运蛋白-493TT基因型可能与冠心病易感性有关,其作用不依赖于TT基因型对TG、LDL-C的影响。
Objective: To investigate the association between microsomal triglyceride transfer protein (MTP) -493G / T polymorphism and risk of coronary heart disease in Chinese Han population. Methods: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine the polymorphism of MTP-493G / T gene in 335 non-diabetic patients with coronary heart disease and 206 patients without coronary heart disease. The difference of genotype and allele frequency between MTP-493G / T and MTP-493G / T was observed. The effect of MTP-493G / T on blood lipid parameters was also observed. Results: Three genotypes were found in the Chinese Han population in Jiangsu Province of China. The genotypes of GG genotype were highest, genotype GT genotype was lowest, genotype TT genotype was the lowest. The frequency of TT genotype (6%) in coronary heart disease group was higher than that in control group (3%) (P <0.05), and the frequency of T allele (19%) was also significantly higher than that in control group (12% . There was no significant correlation between each genotype and the number of coronary lesions. The TG and LDL-C levels of TT genotype were higher than those of GG genotype (P <0.05), while TC, HDL-C and LP (a) levels were not significantly different between the two groups (P> 0.05). Multivariate Logistic regression analysis showed that the OR of TT genotype was 2.14 (95% CI, 1.26-6.56, P = 0.014). It was an independent risk factor independent of the increase of TG and LDL-C in TT genotype. Conclusion: The microsomal triglyceride transporter-493TT genotype may be related to the susceptibility to coronary heart disease, and its effect does not depend on the effect of TT genotype on TG and LDL-C.