Gazi University, Faculty of Pharmacy, Toxicology Department, 06330, Ankara, Turkey.
TR Ministry of Health, Ankara City Hospital, Neurology Clinic, 06800, Ankara, Turkey.
Neurosci Lett. 2020 Sep 14;735:135203. doi: 10.1016/j.neulet.2020.135203. Epub 2020 Jun 27.
Parkinson's Disease (PD), a chronic and progressive neurodegenerative disease of the brain, is associated with the loss of dopaminergic neurons. Its pathogenesis remains unclear; however, oxidative DNA damage due to reactive oxygen species (ROS) is believed to play a major role in the etiology of PD. DNA repair systems can mitigate oxidative DNA damage and help to maintain genomic stability and thus prevent neuronal death. However, gene polymorphisms on DNA repair enzymes may alter the functions of enzymes and increase the risk of PD. The present study aims to investigate a possible link between the OGG1, XRCC1, and MTH1 gene polymorphisms and PD risk in 97 patients with PD and 102 controls in the Turkish population. Our genotyping study utilizing polymerase chain reaction-restriction fragment length polymorphism revealed no relationship between two gene polymorphisms (OGG1Ser326Cys and MTH1Val83Met) and PD risk. Participants with the XRCC1 variant genotypes had a two to three and a half fold higher risk of PD than controls (p = 0.046, OR = 1.910, 95 % CI= [1.013-3.603] and p = 0.006, OR = 3.742, 95 % CI= [1.470-9.525], respectively). Our results suggested that XRCC1 Arg399Gln polymorphism is a risk factor for PD.
帕金森病(PD)是一种慢性进行性的大脑神经退行性疾病,与多巴胺能神经元的丧失有关。其发病机制尚不清楚;然而,由于活性氧(ROS)引起的氧化 DNA 损伤被认为在 PD 的发病机制中起主要作用。DNA 修复系统可以减轻氧化 DNA 损伤,有助于维持基因组稳定性,从而防止神经元死亡。然而,DNA 修复酶的基因多态性可能会改变酶的功能,增加 PD 的风险。本研究旨在探讨土耳其人群中 OGG1、XRCC1 和 MTH1 基因多态性与 PD 风险之间的可能联系,共纳入 97 例 PD 患者和 102 例对照。我们的基因分型研究利用聚合酶链反应-限制性片段长度多态性发现,两种基因多态性(OGG1Ser326Cys 和 MTH1Val83Met)与 PD 风险之间没有关系。与对照相比,XRCC1 变异基因型的参与者患 PD 的风险增加了两到三倍半(p=0.046,OR=1.910,95%CI=[1.013-3.603]和 p=0.006,OR=3.742,95%CI=[1.470-9.525])。我们的结果表明,XRCC1Arg399Gln 多态性是 PD 的一个危险因素。