Grubisa Ivana, Otasević Petar, Dimković Nada, Nedeljković Ivana, Toljić Bosko, Vucinić Nada
Department of Human Genetics and Prenatal Diagnostics, Zvezdara University Medical Center, Belgrade, Serbia.
School of Medicine, University of Belgrade, Belgrade, Serbia.
Srp Arh Celok Lek. 2013 Sep-Oct;141(9-10):629-33. doi: 10.2298/sarh1310629g.
Paraoxonase 1 (PON1) is a multifunctional enzyme associated with high-density lipoprotein particles (HDL). It is a cellular antioxidant that hydrolyses oxidized macromolecules, especially low-density lipoproteins (ox-LDL). Because increased oxidative stress is believed to play a crucial role in the initiation and propagation of atherosclerosis, coding (Q192R and L55M) and promoter (C(-107)T) region polymorphisms of pon1 gene, that are responsible for catalytic efficiency, activity and the level of the enzyme, have been of great interest as a potential markers of susceptibility for atherogenesis.
The aim of the study was to assess possible association between these pon1 gene variants and clinical manifestations of the atherosclerosis and oxidative stress.
A total of 60 angiographically documented patients with manifested atherosclerotic disease and 100 control individuals were analyzed. Genomic DNA was isolated from the peripheral blood cells and genotyping was performed using polymerase chain reaction followed by the restriction fragment length polymorphism (PCR-RFLP) analysis.
No significant difference in allele and genotype frequencies of all three examined polymorphisms was found between the atherosclerotic patients and healthy controls. The obtained results could not support an association of pon1 gene variants with the oxidative stress and atherogenesis.
These polymorphisms cannot be considered risk factors of atherosclerosis in Serbian population. A larger study is required in order to establish possible contribution of pon1 variants to atherosclerosis-related cardiovascular diseases.
对氧磷酶1（PON1）是一种与高密度脂蛋白颗粒（HDL）相关的多功能酶。它是一种细胞抗氧化剂，可水解氧化的大分子，尤其是低密度脂蛋白（ox-LDL）。由于氧化应激增加被认为在动脉粥样硬化的发生和发展中起关键作用，因此对氧磷酶1基因的编码（Q192R和L55M）和启动子（C（-107）T）区域多态性，因其负责酶的催化效率、活性和水平，作为动脉粥样硬化易感性的潜在标志物备受关注。
本研究旨在评估这些对氧磷酶1基因变异与动脉粥样硬化临床表现和氧化应激之间的可能关联。
共分析了60例经血管造影证实患有动脉粥样硬化疾病的患者和100例对照个体。从外周血细胞中分离基因组DNA，并使用聚合酶链反应随后进行限制性片段长度多态性（PCR-RFLP）分析进行基因分型。
在动脉粥样硬化患者和健康对照之间，所有三种检测的多态性的等位基因和基因型频率均未发现显著差异。所得结果不支持对氧磷酶1基因变异与氧化应激和动脉粥样硬化之间的关联。
在塞尔维亚人群中，这些多态性不能被视为动脉粥样硬化的危险因素。需要进行更大规模的研究，以确定对氧磷酶1变异对动脉粥样硬化相关心血管疾病的可能贡献。
