心肌梗死和脑梗死病人载脂蛋白a五核苷酸重复序列基因多态性及与血浆脂蛋白(a)水平的关系  

Relation of pentanucleotide repeat polymorphism of apolipoprotein (a) gene to plasma lipoprotein (a) level among Chinese patients with myocardial infarction and cerebral infarction

作　　者：刘晓宁[1] 孙莉[1] 李昭晖[1] 高岩[1] 惠汝太 

机构地区：[1]中国医学科学院中国协和医科大学阜外心血管病医院分子医学中心,北京100037

出　　处：《中华医学杂志》2002年第20期1396-1400,共5页National Medical Journal of China

摘　　要：目的　探讨载脂蛋白apo(a)五核苷酸重复序列 (PNTR)基因多态性在心肌梗死、脑梗死病人中的分布情况及特点 ,分析其与血浆脂蛋白 (a) [Lp(a) ]水平的关系。方法　采用聚合酶链反应结合非变性聚丙烯酰胺凝胶电泳法检测了 4 38例心肌梗死病人及 2 18例对照 (冠脉造影阴性 )和 80 9例脑梗死病人 (头颅CT检查证实 )及 1817例非脑卒中者对照的apo(a)PNTR基因多态性 ,采用酶联免疫吸附法检测其血浆Lp(a)的水平。结果　每组人群apo(a)PNTR共检出 8种等位基因 ,2 9种基因型 ,等位基因和基因型分别以 8和 8/ 8最为常见。脑梗死组小片段PNTR4 7频率明显增多 (P <0 0 5 ) ,心肌梗死组 5 / 8基因型频率显著高于对照组 (P <0 0 5 )。心肌梗死组和脑梗死组的血浆Lp(a)浓度均明显高于对照组 (P <0 0 0 1) ,且与apo(a)PNTR基因多态性呈明显的负相关 (P <0 0 1) ,在对照组均未发现这种关联。Logistic回归结果显示 :血浆Lp(a) >30 0mg/L者 ,心肌梗死的危险性增加 (OR值为2 4 ,95 %可信限 1 6 30 3 5 94 ) ,脑梗死的危险性增加 (OR值为 1 6 ,95 %可信限 1 0 13 2 0 2 1) ;apo(a)PNTR小片断重复与与脑梗死的发病有关 (OR值为 1 4 ,95 %可信限 1 0 4 0 1 910 ) ,而与心肌梗死无明显相关 (P >0 0 5 )。结论　血浆Lp(a)Objective investigate the distribution and characteristics of 5′pentanucleotide TTTTA repeat (PNTR) polymorphism of apolipoprotein (a) gene among Chinese patients with myocardial infarction (MI) and cerebral infarction, and its relationship to plasma lipoprotein (a) level Methods DNA was extracted from the peripheral blood of 438 patients with myocardial infarction (MI, documented angiographically) and 218 controls, and 809 patients with cerebral infarction (documented by CT) and 1 817 controls Plasma Lp(a) level was measured by ELISA PNTR polymorphism of apo(a) gene was determined by polymerase chain reaction (PCR) and subsequent polyacrylamide gel electrophoresis Results Eight alleles and 29 genotypes in apo(a) PNTR were detected in the four groups The frequency of (TTTTA) 4 7 allele in the cerebral infarction group was 7 0%, significantly higher than that in control group (5 4%, P <0 05) The frequency of genotype (TTTTA) 5/8 in MI group was 13 2%, significantly higher than that in the control group (7 8%, P <0 05) No significant difference was seen in other alleles and genotypes among different groups (all P >0 05) The level of triglyceride (TG) in patients with MI was 5 13 mmol/L±1 15 mmol/L, significantly higher than that in controls (4 90 mmol/L± 0 99 mmol/L, P <0 05) The level of TG in patients with cerebral infarction was 1 84 mmol/L±1 36 mmol/L, not significantly different from that in controls (1 83 mmol/L±1 51 mmol/L). The level of total cholesterol (TC) in patients with MI was 4 85 mmol/L±1 04 mmol/L, significantly lower than that in controls (4 97 mmol/L±1 00 mmol/L, P <0 001). The level of TC in patients with cerebral infarction was 1 97±1 11 mmol/L, not significantly different from that in controls (1 79 mmol/L±1 23 mmol/L). A negative correlation between the number of PNTR and Lp (a) level was observed in both MI group ( P <0 001) and cerebral infarction group ( P <0 01), and not in the control group

关 键 词：心肌梗死 脑梗死 载脂蛋白A类 危险因素 

分 类 号：R542.22[医药卫生—心血管疾病] R743.33[医药卫生—内科学]