Gorący Jarosław, Kaczmarczyk Mariusz, Ciechanowicz Andrzej, Safranow Krzysztof, Gorący Joanna, Jakubowska Katarzyna, Chlubek Dariusz, Gorący Iwona
Clinic of Cardiology, Pomeranian Medical University, Szczecin, Poland.
Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland.
Arch Med Sci. 2019 Sep;15(5):1223-1231. doi: 10.5114/aoms.2019.84413. Epub 2019 Apr 9.
Endothelial dysfunction is one of the most important factors implicated in the pathogenesis of coronary artery disease (CAD). The aim of this study was to investigate the association of the E-selectin gene () with CAD and CAD-related traits using tagging polymorphisms.
A total of 379 Polish patients who had undergone angiography were included: 261 patients with angiographically documented CAD, 202 CAD patients without myocardial infarction (CAD/MI(-) group) and 59 patients with myocardial infarction (CAD/MI(+) group) as well as 118 healthy control subjects (non-CAD). Eight tagging single nucleotide polymorphisms (SNPs) in the gene were selected using genotype data from HapMap. Genotyping was performed using PCR-RFLP and PCR-DHPLC methods.
The most common haplotype in this analysis ([C;G;T;C;G;T], 31.2%) showed a negative association with myocardial infarction (MI) (CAD/MI(+) vs. non-CAD) under the additive ( = 0.001), dominant ( = 0.006) and recessive ( = 0.012) model. Two other haplotypes ([C;G;C;C;A;C], [C;A;C;A;G;T], 5.73% and 18.1%, respectively) were also negatively associated with MI under the additive and dominant model. We also found two haplotypes ([T;G;T;C;G;T], [C;G;C;C;A;T], 1.52% and 6.71%, respectively) associated with the risk for MI (CAD/MI(+) vs. CAD/MI(-)), acting in both additive ( = 0.04, = 0.007, respectively) and dominant ( = 0.04, = 0.004, respectively) manner. There was no association with either CAD/MI(-) or with severity of CAD expressed as the number of vessels involved.
Our results suggest that is one of the independent genetic factors modifying the risk of myocardial infarction.
内皮功能障碍是冠状动脉疾病（CAD）发病机制中最重要的因素之一。本研究旨在利用标签单核苷酸多态性研究E-选择素基因（）与CAD及CAD相关特征之间的关联。
共纳入379例接受血管造影的波兰患者：261例血管造影证实患有CAD的患者，其中202例无心肌梗死的CAD患者（CAD/MI（-）组）和59例有心肌梗死的患者（CAD/MI（+）组），以及118例健康对照者（非CAD）。利用HapMap的基因型数据在基因中选择了8个标签单核苷酸多态性（SNP）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和聚合酶链反应-变性高效液相色谱（PCR-DHPLC）方法进行基因分型。
本分析中最常见的单倍型（[C;G;T;C;G;T]，31.2%）在加性（=0.001）、显性（=0.006）和隐性（=0.012）模型下与心肌梗死（MI）呈负相关（CAD/MI（+）组与非CAD组相比）。另外两种单倍型（[C;G;C;C;A;C]、[C;A;C;A;G;T]，分别为5.73%和18.1%）在加性和显性模型下也与MI呈负相关。我们还发现两种单倍型（[T;G;T;C;G;T]、[C;G;C;C;A;T]，分别为1.52%和6.71%）与MI风险相关（CAD/MI（+）组与CAD/MI（-）组相比），在加性（分别为=0.04，=0.007）和显性（分别为=0.04，=0.004）模型下均有作用。与CAD/MI（-）组或用受累血管数量表示的CAD严重程度均无关联。
我们的结果表明，是改变心肌梗死风险的独立遗传因素之一。
