Kamilla de Faria Santos , Rômulo Morais Azevedo , Dhiogo da Cruz Pereira Bento , Rodrigo da Silva Santos , Angela Adamski da Silva Reis
{"title":"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","authors":"Kamilla de Faria Santos , Rômulo Morais Azevedo , Dhiogo da Cruz Pereira Bento , Rodrigo da Silva Santos , Angela Adamski da Silva Reis","doi":"10.1016/j.mgene.2021.100979","DOIUrl":null,"url":null,"abstract":"<div><p>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 <em>GSTM1</em> and <em>GSTT1</em> deletion polymorphisms. This case-control study evaluated the association of <em>GSTM1</em> and <em>GSTT1</em> 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 (<em>p</em> = 0.01). However, we found no association between ALS risk and <em>GSTM1</em> (<em>p</em> = 0.85) and <em>GSTT1</em> (<em>p</em> = 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.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"30 ","pages":"Article 100979"},"PeriodicalIF":0.8000,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2214540021001304/pdfft?md5=6b0ce7f204eab7007c1707fa0e76d4e4&pid=1-s2.0-S2214540021001304-main.pdf","citationCount":"1","resultStr":"{\"title\":\"No association between GSTM1 and GSTT1 deletion polymorphisms and Amyotrophic Lateral Sclerosis: a genetic study in Brazilian patients\",\"authors\":\"Kamilla de Faria Santos , Rômulo Morais Azevedo , Dhiogo da Cruz Pereira Bento , Rodrigo da Silva Santos , Angela Adamski da Silva Reis\",\"doi\":\"10.1016/j.mgene.2021.100979\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 <em>GSTM1</em> and <em>GSTT1</em> deletion polymorphisms. This case-control study evaluated the association of <em>GSTM1</em> and <em>GSTT1</em> 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 (<em>p</em> = 0.01). However, we found no association between ALS risk and <em>GSTM1</em> (<em>p</em> = 0.85) and <em>GSTT1</em> (<em>p</em> = 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.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"30 \",\"pages\":\"Article 100979\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2021-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001304/pdfft?md5=6b0ce7f204eab7007c1707fa0e76d4e4&pid=1-s2.0-S2214540021001304-main.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001304\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021001304","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
Meta GeneBiochemistry, 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.