Laboratory of Molecular Pathology, Department of Biochemistry and Molecular Biology, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Rehabilitation and Readaptation Medical Center Dr. Henrique Santillo (CRER), Goiânia, Goiás, Brazil.
PLoS One. 2021 Feb 19;16(2):e0247024. doi: 10.1371/journal.pone.0247024. eCollection 2021.
Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. It has a multifactorial etiology, where environmental conditions playing a remarkable role through the increase of oxidative stress. Genetic polymorphisms in cell detoxification genes, such as Glutathione S-Transferase Pi 1 (GSTP1) can contribute to excessive oxidative stress, and therefore may be a risk factor to ALS. Thus, this study aimed to investigate the role of the GSTP1 rs1695 polymorphism in ALS susceptibility in different genetic inheritance models and evaluate the association of the genotypes with risk factors, clinical and demographic characteristics of ALS patients from the Brazilian central population. This case-control study was conducted with 101 patients with ALS and 101 healthy controls. GSTP1 rs1695 polymorphism genotyping was performed with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The statistical analysis was carried out using the SPSS statistical package and SNPStats software. Analysis of genetic inheritance models was performed by logistic regression, which was used to determine the Odds Ratio. The results of this first study in the Brazilian population demonstrated that there was no risk association between the development of ALS and the GSTP1 rs1695 polymorphism in any genetic inheritance model (codominant, dominant, recessive, overdominant, and logarithmic); and that the polymorphic variants were not associated with the clinical and demographic characteristics of ALS patients. No association of the GSTP1 rs1695 polymorphism and ALS development in the Brazilian central population was found. These findings may be justified by the multifactorial character of the disease.
肌萎缩侧索硬化症(ALS)是一种罕见的神经退行性疾病,影响运动神经元并导致进行性肌肉萎缩。它具有多因素病因,其中环境条件通过增加氧化应激起着显著作用。细胞解毒基因如谷胱甘肽 S-转移酶 Pi 1(GSTP1)的遗传多态性可能导致过度的氧化应激,因此可能是 ALS 的一个危险因素。因此,本研究旨在探讨 GSTP1 rs1695 多态性在不同遗传遗传模型中对 ALS 易感性的作用,并评估基因型与巴西中部人群 ALS 患者的危险因素、临床和人口统计学特征的相关性。这项病例对照研究纳入了 101 名 ALS 患者和 101 名健康对照。GSTP1 rs1695 多态性的基因分型采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行。统计分析采用 SPSS 统计软件包和 SNPStats 软件进行。遗传遗传模型的分析采用逻辑回归进行,用于确定优势比。巴西人群的这项首次研究结果表明,在任何遗传遗传模型(共显性、显性、隐性、超显性和对数)中,GSTP1 rs1695 多态性与 ALS 的发展之间均无风险关联;且多态性变异与 ALS 患者的临床和人口统计学特征无关。在巴西中部人群中,GSTP1 rs1695 多态性与 ALS 的发生也没有相关性。这些发现可能是由于疾病的多因素特征所解释的。