E-选择素基因SER128ARG多态性与急性心肌梗死易感的相关性研究

Relationship between the level of serum E-selectin and SER128ARG polymorphisms of E-selectin in patients with acute myocardial infarction

目的探讨E-选择素基因SER128ARG(S128R)多态性在急性心肌梗死(AMI)患者和正常人群中的分布特点及与AMI的易感相关性,以及对血清E-选择素水平的影响。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测168例AMI患者和200例健康对照者E-选择素基因多态性,同时采用酶联免疫吸附试验(ELLSA)法检测所有参与者血清E-选择素水平。结果E-选择素基因S128R基因型频率和等位基因频率,在AMI组和对照组的分布差异有统计学意义(P<0.05);基因型频率的相对风险分析发现,SR杂合子基因型携带者患AMI的风险是SS纯合子基因型的2.234倍(OR=2.234,95%CI:1.112～4.437);AMI组血清E-选择素水平明显高于对照组(P<0.05);SR杂合子基因型携带者血清E-选择素水平显著高于SS纯合子基因型(41.65±8.87)μg/L和(34.23±6.72)μg/L,P<0.05。结论E-选择素S128R基因多态性与AMI的发病有关联,并影响血清E-选择素水平;提示R基因可能是AMI发病的遗传易感基因。

Objective To explore the relationship between the serum level of E-selectin and S128R polymorphisms in the exon 4 of E-selectin gene and acute myocardial infarction （AMI） in local Han peoples. Method The genotype of E-selectin were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method in 168 patients with acute myocardial infarction and 200 healthy controls, and the serum level of E-selectin was measured by enzyme-linked immunosorbent assay （ELISA）. Results There was significant difference in frequencies of allele and genotype in S128R polymorphism between acute myocardial infarction and control groups respectively. The relative risk suffered from acute myocardial infarction of SS genotype was 2.234 times of the SR genotype （ OR = 2.234, 95% CI： 1.112 - 4.437）, The serum E-selectin level was significantly higher among carriers of SR genotype as compared with SS genotype （41.65 ± 8.87 ） μg/L vs （34.23 ± 6.72） μg/L, P 〈 0.05. Acute myocardial infarction group showed significantly higher serum level of E-selectin than that of control group, P 〈 0.05. Conclusions E-selectin S128R polymorphism was associated with acute myocardial infarction, its polymorphism may affect the serum E-selectin level. R allele may be a risk factor for acute myocardial infarction.