【摘要】 目的研究血小板内皮细胞黏附分子1(PECAM1)、平滑肌蛋白1(LMOD1)基因多态性位点与缺血性卒中患者颈动脉斑块易损风险的关系。方法前瞻性纳入自2014年5月至2017年10月于北京天坛医院就诊的具有颈动脉斑块的缺血性卒中患者,采集人口统计学资料及相关临床信息,采用颈动脉高分辨MRI区分易损及稳定斑块,依次纳入易损斑块组与稳定斑块组。利用实时聚合酶链反应方法,使用Taq Man探针对易损斑块组及稳定斑块组患者PECAM1、LMOD1基因多态性位点rs1867624、rs2820315进行基因分型并进行统计学分析。采用二分类Logistic回归分析探讨影响颈动脉粥样硬化斑块易损性的危险因素。结果共纳入具有颈动脉斑块的缺血性卒中患者270例,其中189例具有易损斑块,81例具有稳定斑块。对两组患者PECAM1基因rs1867624位点的多态性分析显示,等位基因T是易损性斑块风险基因,其基因频率在易损斑块组、稳定斑块组中分别为87. 3%(330/378)、79. 6%(129/162; OR=1. 759,95%CI:1. 080～2. 864,P=0. 022)。对LMOD1基因SNP位点rs2820315的分析显示,等位基因C是易损性斑块的危险基因,其基因频率在易损斑块组、稳定斑块组中分别中为87. 6%(331/378)、80. 9%(131/162; OR=1. 667,95%CI:1. 014～2. 738,P=0. 042)。Logistic回归分析结果显示,年龄(OR=1. 069,95%CI:1. 022～1. 118,P=0. 004)、PECAM1基因rs1867624位点T/T基因型(OR=2. 202,95%CI:1. 035～4. 688,P=0. 041)和LMOD1基因rs2820315位点C/C基因型(OR=2. 199,95%CI:1. 005～4. 809,P=0. 048)是形成易损性斑块的风险因素。结论 PECAM1基因单核苷酸多态性位点rs1867624、LMOD1基因单核苷酸多态性位点rs2820315与颈动脉斑块易损性相关。更多还原

【Abstract】 Objective To investigate the relationship between platelet endothelial cell adhesion molecule 1( PECAM1)/leiomodin 1( LMOD1) gene polymorphism loci and the risk of carotid plaque vulnerability in patients with ischemic stroke. Methods Ischemic stroke patients with carotid plaque admitted to Beijing Tiantan Hospital from May 2014 to October 2017 were enrolled prospectively. The demographic data and relevant clinical information were collected. Carotid artery high-resolution magnetic resonance imaging( MRI) was used to distinguish vulnerable and stable plaques. The patients were enrolled in vulnerable plaque group and stable plaque group in turn. Real-time polymerase chain reaction was used. The Taq Man probe was use to conduct genotyping and statistical analysis of the PECAM1,LMOD1 gene polymorphism loci rs1867624 and rs2820315 in the vulnerable plaque group and the stable plaque group. Binary logistic regression analysis was used to investigate the risk factors affecting the vulnerability of carotid atherosclerotic plaques. Results A total of 270 ischemic stroke patients with carotid plaque were enrolled,including189 with vulnerable plaques and 81 with stable plaques. The polymorphism analysis of the PECAM1 gene locus rs1867624 in the two groups showed that the allele T was a vulnerable plaque risk gene,and its gene frequency in the vulnerable plaque group and the stable plaque group was 87. 3%( 330/378) and 79. 6%( 129/162; OR,1. 759,95% CI 1. 080-2. 864 respectively,P = 0. 022). Analysis of the LMOD1 gene SNP locus rs2820315 showed that allele C was a risk gene for vulnerable plaques,and its gene frequency in the vulnerable plaque group and the stable plaque group was 87. 6%( 331/378) and 80. 9% respectively( 131/162; OR,1. 667,95% CI 1. 014-2. 738,P = 0. 042). Logistic regression analysis showed that age( OR,1. 069,95% CI 1. 022-1. 118,P = 0. 004),PECAM1 gene rs1867624 locus T/T genotype( OR,2. 202,95% CI 1. 035-4. 688,P = 0. 041),and LMOD1 gene rs2820315 locus C/C genotype( OR,2. 199,95% CI 1. 005-4. 809,P = 0. 048) were the risk factors for the formation of vulnerable plaques. Conclusion The single nucleotide polymorphism locus rs1867624 of PECAM1 gene and single nucleotide polymorphism locus rs2820315 of LMOD1 gene were associated with carotid plaque vulnerability.更多还原