血小板内皮细胞粘附分子基因G+1688A多态性与中国汉族老年心肌梗死患者的相关性研究

目的探讨血小板内皮细胞粘附分子(platelet endothelial cell adhesion molecule-1,PECAM-1)基因G+1688A(Ser563Asn)多态性与老年人群心肌梗死(myocardial infarction,MI)的关系。方法采用病例-对照研究,应用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)分析技术对100例老年MI患者和120例老年非冠心病对照人群PECAM-1基因的第8号外显子区单碱基突变多态性(single nucleotide polymorphism,SNP)进行分析,即基因型和等位基因频率在两组中的分布规律及其与MI的关系。结果AA基因型频率在病例组与对照组之间有显著差异(43%:24%,p<0.001),等位基因间亦存在同样的趋势(A/G:65%:54%,p<0.001)。而且在高胆固醇或收缩压过高的人群中,基因型为AA者患MI的危险度增高。结论在老年MI患者中,PECAM-1基因G+1688A点突变多态性与MI发病密切相关,可能是老年患者MI的遗传危险因素。

Association of G+1688A Polymorphism of Platelet Endothelial Cell Adhesion Molecule-1 Gene with Coronary Artery Disease in the Chinese Han Old People

Objective To investigate the association of G ＋ 1688A （Ser563Asn） polymorphism of platelet endothelial cell adhesion molecule-1 （ PECAM-1 ） gene with myocardial infarction （MI） of the Chinese Han old people. Methods The G ＋ 1688A single nucleotide polymorphism（SNP） , i. e. the genotypic frequencies and allele frequencies of the 8th exon in PECAM-1 gene was detected by polymerase chain reaction-restriction fragment-length polymorphism （PCR-RFLP） method among 220 subjects, including 100 patients with MI and 120 controls. Results There was significant difference in AA frequencies of genotype G ＋ 1688A （Ser563Asn） polymorphism between MI patients and control groups respectively （43% vs 24% , p 〈 0. 001 ）. A similar trend was observed on the allele frequencies （ A/G： 65% vs 54%, p 〈0. 001 ）. Among the subjects of high serum total cholesterol level or high systolic blood pressure level, the variant AA genotypc was associated with high risk of MI （adjust OR, 2. 43; 95% CI, 1.08-5. 41 and adjust OR, 2. 75; 95% CI, 1.64-4.63）. Conclusions The SNP at position ＋ 1688 of PECAM-1 gene is associated with MI and the allele A may be a risk factor for MI in the Chinese Han old people.