GSTM1和GSTT1缺失多态性与肌萎缩侧索硬化症之间无关联:巴西患者的遗传研究

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100979
Kamilla de Faria Santos , Rômulo Morais Azevedo , Dhiogo da Cruz Pereira Bento , Rodrigo da Silva Santos , Angela Adamski da Silva Reis
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引用次数: 1

摘要

谷胱甘肽s -转移酶超家族(GSTs)参与异种生物和氧化应激产物的解毒过程。基因-环境相互作用在肌萎缩性侧索硬化症(ALS)发展中的相关性鼓励进一步研究遗传因素的作用,如GSTM1和GSTT1缺失多态性。本病例对照研究评估了GSTM1和GSTT1缺失多态性与ALS易感性的关系。我们用多重实时荧光定量PCR (qPCR)对101例患者和119例对照进行基因分型,并从病历和问卷中收集临床和人口统计学数据。我们的研究结果表明,酒精摄入在ALS患者中占主导地位,并与疾病的发展显著相关(p = 0.01)。然而,我们发现ALS风险与GSTM1 (p = 0.85)和GSTT1 (p = 0.90)多态性之间没有关联,即使我们将两种基因型结合起来。我们分析了巴西患者的样本,在这个人群中很少有关于这种罕见疾病的研究。因此,应该鼓励寻求ALS与突变、多态性或其他细胞解毒途径基因表达之间关系的新见解,并将为抗氧化机制和氧化应激在疾病发病机制中的作用提供更多信息。
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No association between GSTM1 and GSTT1 deletion polymorphisms and Amyotrophic Lateral Sclerosis: a genetic study in Brazilian patients

The glutathione S-transferases superfamily (GSTs) act on the detoxification process of xenobiotics and oxidative stress products. The relevance of gene-environment interactions in the development of Amyotrophic lateral sclerosis (ALS) encourages further investigation into the role of genetic factors, such as GSTM1 and GSTT1 deletion polymorphisms. This case-control study evaluated the association of GSTM1 and GSTT1 deletion polymorphism and ALS susceptibility. We genotyped 101 case-patients and 119 controls with multiplex real-time PCR (qPCR) and collected clinical and demographic data from medical records and questionnaires. Our findings demonstrated that alcohol intake was predominant in ALS patients and was significantly associated with the development of the disease (p = 0.01). However, we found no association between ALS risk and GSTM1 (p = 0.85) and GSTT1 (p = 0.90) polymorphisms, even when we combined both genotypes. We analyzed a sample of Brazilian patients, a population within which few studies exist about this rare disease. Thus, new insights seeking the relationship between ALS and mutations, polymorphisms, or the expression of other cell detoxification pathway genes should be encouraged and will provide additional information on the role of antioxidant mechanisms and oxidative stress in the pathogenesis of the disease.

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来源期刊
Meta Gene
Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍: Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.
期刊最新文献
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