Balcerzyk Anna, Zak Iwona, Krauze Jolanta
Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland.
Arch Med Res. 2007 Jul;38(5):545-50. doi: 10.1016/j.arcmed.2007.03.004.
Genetic susceptibility to coronary artery disease (CAD) may be determined by polymorphic variants of genes encoding isoforms involved in the processes important in the pathogenesis of atherosclerosis, including lipoprotein oxidation. Participation of single polymorphic variants is relatively small; however, its significance may increase in the presence of specific environmental background. The aim of the study was an evaluation of a possible association between R192Q polymorphism of PON1 gene and CAD as well as interactions between polymorphic variants and conventional risk factors of CAD in determining the risk of the disease.
We studied 358 subjects: 178 patients with angiographically confirmed CAD and 180 blood donors without history of CAD. Polymorphisms were genotyped using PCR-RFLP method.
We observed statistically significant differences in the frequencies of Q allele and Q allele carriers of PON1 gene between CAD and controls. We also found a strong synergistic effect between Q allele carrier state and smoking, as well as Q allele carrier state and elevated level of total cholesterol.
The present study revealed an association between carrier state of Q allele of PON1 gene and coronary artery disease as well as synergistic effects between genotype and some conventional risk factors, mainly smoking and elevated level of total cholesterol.
冠状动脉疾病(CAD)的遗传易感性可能由编码在动脉粥样硬化发病机制中重要过程(包括脂蛋白氧化)所涉及的同工型的基因多态性变体决定。单个多态性变体的作用相对较小;然而,在特定环境背景下其意义可能会增加。本研究的目的是评估对氧磷酶1(PON1)基因R192Q多态性与CAD之间可能存在的关联,以及多态性变体与CAD传统危险因素之间的相互作用在确定疾病风险中的作用。
我们研究了358名受试者:178名经血管造影证实患有CAD的患者和180名无CAD病史的献血者。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对多态性进行基因分型。
我们观察到CAD患者和对照组之间对氧磷酶1基因Q等位基因及Q等位基因携带者频率存在统计学上的显著差异。我们还发现Q等位基因携带者状态与吸烟之间以及Q等位基因携带者状态与总胆固醇水平升高之间存在强烈的协同效应。
本研究揭示了对氧磷酶1基因Q等位基因携带者状态与冠状动脉疾病之间的关联,以及基因型与一些传统危险因素(主要是吸烟和总胆固醇水平升高)之间的协同效应。