超氧化物歧化酶1基因的rs2070424与阿尔茨海默病风险相关。
rs2070424 of the SOD1 gene is associated with risk of Alzheimer's disease.
作者信息
Spisak Karolina, Klimkowicz-Mrowiec Aleksanda, Pera Joanna, Dziedzic Tomasz, Aleksandra Golenia, Slowik Agnieszka
机构信息
Department of Neurology, University Hospital, Krakow, Poland.
Department of Neurology, Jagiellonian University, School of Medicine, Krakow, Poland.
出版信息
Neurol Neurochir Pol. 2014;48(5):342-5. doi: 10.1016/j.pjnns.2014.09.002. Epub 2014 Oct 13.
OBJECTIVE
Oxidative stress plays an important role in Alzheimer's disease (AD) etiopathogenesis. There were several studies that showed impaired antioxidant defense system (ADS) enzymes expression or activity in AD patients. There are only few studies evaluating the importance of ADS gene single nucleotide polymorphisms (SNPs) as risk factors of AD. We evaluated association between chosen SNPs of the enzymes of the ADS and risk of AD.
METHODS
We included 400 AD patients and 402 healthy controls. We studied rs1041740, rs4998557 and rs2070424 of the SOD1 gene, rs2855116, rs5746136 and rs4880 of the SOD2 gene and rs3448, rs1050450 and rs1800668 of the GPx-1 gene (real time PCR). To determine the APOE gene common polymorphism, two single-nucleotide polymorphisms (SNPs; NCBI SNPs rs429358 and rs7412) were genotyped (TaqMan assays, Applied Biosystems [ABI], Foster City, CA, USA). The genotype and gender frequencies were compared between the studied groups by the χ(2) test and mean age by the t-Student test.
RESULTS
Among all studied SNPs only rs2070424 of the SOD1 gene was a protective factor for AD in an additive (OR=0.47; 95% CI=0.30-0.74, p=0.001) and recessive (OR=0.47; 95% CI=0.30-0.75, p=0.002) models including age, gender and APOE gene status.
CONCLUSIONS
rs2070424 polymorphism of the SOD1 gene is a risk factor for AD in Polish population. Allel G and genotype AG and GG are protective factors for AD.
目的
氧化应激在阿尔茨海默病（AD）的病因发病机制中起重要作用。有多项研究表明AD患者的抗氧化防御系统（ADS）酶表达或活性受损。仅有少数研究评估ADS基因单核苷酸多态性（SNP）作为AD危险因素的重要性。我们评估了ADS酶的选定SNP与AD风险之间的关联。
方法
我们纳入了400例AD患者和402例健康对照。我们研究了超氧化物歧化酶1（SOD1）基因的rs1041740、rs4998557和rs2070424，超氧化物歧化酶2（SOD2）基因的rs2855116、rs5746136和rs4880以及谷胱甘肽过氧化物酶1（GPx-1）基因的rs3448、rs1050450和rs1800668（实时聚合酶链反应）。为确定载脂蛋白E（APOE）基因常见多态性，对两个单核苷酸多态性（SNP；美国国立生物技术信息中心SNP rs429358和rs7412）进行基因分型（TaqMan分析，应用生物系统公司[ABI]，美国加利福尼亚州福斯特城）。通过χ²检验比较研究组之间的基因型和性别频率，通过t检验比较平均年龄。
结果
在所有研究的SNP中，仅SOD1基因的rs2070424在包括年龄、性别和APOE基因状态的加性模型（比值比[OR]=0.47；95%可信区间[CI]=0.30 - 0.74，p=0.001）和隐性模型（OR=0.47；95% CI=0.30 - 0.75，p=0.002）中是AD的保护因素。
结论
SOD1基因的rs2070424多态性是波兰人群中AD的一个危险因素。等位基因G以及基因型AG和GG是AD的保护因素。
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