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与帕金森病易感性相关的超氧化物歧化酶基因多态性编码

Superoxide dismutase coding of gene polymorphisms associated with susceptibility to Parkinson's disease.

作者信息

Liu Chunlei, Fang Jinju, Liu Wenke

机构信息

Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan Province 610041, P. R. China.

Department of Neurology, The Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province 530031, P. R. China.

出版信息

J Integr Neurosci. 2019 Sep 30;18(3):299-303. doi: 10.31083/j.jin.2019.03.127.

Abstract

Oxidative stress linked to the etiology of Parkinson's disease, which is characterized by chronic and progressive neurodegeneration of dopamine neurons. Superoxide dismutase enzymes (SODs) regarded as the first line of defense against oxidative damage. This study assessed the potential associations of gene polymorphisms in SOD1 (encoding Cu/Zn-SOD), SOD2 (encoding Mn-SOD) and SOD3 (encoding extracellular-SOD) with susceptibility to Parkinson's disease. A case-control study, including Parkinson's disease cases (n = 356) and controls (n = 370). Single nucleotide polymorphisms of SOD1 (rs2070424 A/G), SOD2 (rs4880 T/C) and SOD3 (rs1799895, C/G) were genotyped. Results indicated that AG or GG genotype carriers in SOD1 had a much greater risk of Parkinson's disease compared to corresponding AA genotypes, and allele G carriers had increased risk versus allele A carriers in the single nucleotide polymorphism (rs2070424 A/G) in SOD1. Further, TC or CC genotype carriers in SOD2 had a much higher risk of Parkinson's disease compared with corresponding TT genotypes, and the C carriers had an increased risk over allele T carriers in the single nucleotide polymorphism (rs4880 T/C) in SOD2. Together, carrying allele G in the single nucleotide polymorphism (rs2070424 A/G) in SOD1, or allele C in the single nucleotide polymorphism (rs4880 T/C) in SOD2, enhances genetic susceptibility to Parkinson's disease.

摘要

氧化应激与帕金森病的病因相关,帕金森病的特征是多巴胺神经元的慢性进行性神经变性。超氧化物歧化酶(SODs)被视为对抗氧化损伤的第一道防线。本研究评估了SOD1(编码铜/锌超氧化物歧化酶)、SOD2(编码锰超氧化物歧化酶)和SOD3(编码细胞外超氧化物歧化酶)基因多态性与帕金森病易感性之间的潜在关联。一项病例对照研究,包括帕金森病病例(n = 356)和对照(n = 370)。对SOD1(rs2070424 A/G)、SOD2(rs4880 T/C)和SOD3(rs1799895,C/G)的单核苷酸多态性进行基因分型。结果表明,与相应的AA基因型相比,SOD1中AG或GG基因型携带者患帕金森病的风险要高得多,并且在SOD1的单核苷酸多态性(rs2070424 A/G)中,等位基因G携带者比等位基因A携带者的风险增加。此外,与相应的TT基因型相比,SOD2中TC或CC基因型携带者患帕金森病的风险要高得多,并且在SOD2的单核苷酸多态性(rs4880 T/C)中,C携带者比等位基因T携带者的风险增加。总之,在SOD1的单核苷酸多态性(rs2070424 A/G)中携带等位基因G,或在SOD2的单核苷酸多态性(rs4880 T/C)中携带等位基因C,会增加帕金森病的遗传易感性。

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