【摘要】 目的探讨脂蛋白脂酶(LPL)PvuⅡ基因位点多态性与动脉粥样硬化性脑梗死发病的关系及其对血脂、颈动脉斑块的影响。方法选择动脉粥样硬化性脑梗死患者166例,根据患者入院时美国国立卫生研究所卒中评分,将脑梗死分为轻型(70例)、中型(87例)和重型(9例)3个亚组;按照TOAST分类,分为大血管受累组(37例)及小血管受累组(129例)。另外选择72名健康成人为对照组。采用聚合酶链反应-限制性片段长度多态性方法,进行LPLPvuⅡ基因多态性分析;酶法测定血脂;颈动脉超声多普勒检查颈总动脉内膜中层厚度(IMT)及颈动脉斑块(CAP),并据此进行分级。结果脑梗死组P+P+、P-P+及P-P-基因型患者血浆三酰甘油分别为(2.0±1.4)、(1.5±1.0)及(1.3±0.6)mmol/L,P+P+与P-P+、P-P-基因型相比差异有统计学意义(P=0.027,P=0.001);高密度脂蛋白胆固醇(HDL-C)分别为(0.99±0.25)、(1.10±0.29)及(1.48±0.68)mmol/L,差异亦有统计学意义(P=0.023,P=0.01);大小血管受累组、不同病情组及不同CAP分级患者的基因型分布,差异无统计学意义。脑梗死组P+等位基因频率为66.6%,对照组为47.9%(P=0.000);脑梗死组、对照组组内各基因型之间左右颈总动脉IMT差异无统计学意义。结论LPLPvuⅡ基因位点多态性与血脂变化及脑梗死的关系密切,P+P+基因型与血浆三酰甘油升高,HDL-C下降有关;P+P+基因型可能是脑梗死的易感基因。更多还原

【Abstract】 Objective To explore the relationship between lipoprotein lipase (LPL) gene polymorphism at PvuⅡ locus and atherosclerotic cerebral infarction (CI) and its effect on plasma lipids and carotid artery plaque (CAP). Methods A total of 166 patients with atherosclerotic CI were recruited. According to National Institutes of Health Stroke Scale scores. All patients were divided into 3 groups: the mild infarction group(n=70), the moderate infarction group(n=87), and the severe infarction (n=9). According to the TOAST classification, they were divided into major vessel involved group (n=37) and minor vessel involved group (n=129). Another 72 healthy adults were selected as control group. The analysis of LPL gene polymorphism at PvuⅡ locus was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP); the plasma lipids were measured by enzymatic method; the carotid intima-media thickness (IMT) and CAP were detected with carotid ultrasonagraphic Doppler and were thus graded.Results The plasma triglyceride levels of P+P+, P-P+ and P-P-genotype carriers in the CI group were 2.0±1.4, 1.5±1.0, and 1.3±0.6 mmol/L, respectively, and there were significant differences between P+P+ and P-P+, P-P-(P=0.027, P=0.001). Their high density lipoprotein cholesterol levels were 0.99±0.25, 1.10±0.29, and 1.48 ±0.68 mmol/L in the P+P+, P-P+ and P-P-group, respectively, and there were also significant differences between P+P+ and P-P+, P-P-group(P=0.023, P=0.01); the genotype distribution did not have significant differences between the major and minor vessel involved groups, different conditions, and different CAP graded patients. The frequency of P+ allele was 66.6% in the CI group, and 47.9% in the control group (P=0.000). There were no significant differences among all genotypes both at left and right common carotid arteries in the CI and control groups. Conclusion LPL gene polymorphism at PvuⅡ locus is closely correlated with the changes of plasma lipids and CI. P+P+ genotypes are associated with the increase of plasma triacylglycerol and the decrease of plasma high density lipoprotein cholesterol. P+P+ genotypes may be the susceptible genotypes of CI.更多还原