Raquel Garcia Rocco da Silva, Marcelo A Costa Lima, Claudia de Melo Moura, Jorge Luiz Luescher, Ludmila Nascimento Rodrigues Campos, Daniel de Souza E Silva, Márcia Gonçalves Ribeiro
{"title":"Association of interleukin 4 and MTHFR gene polymorphisms with distal symmetrical polyneuropathy in young diabetics.","authors":"Raquel Garcia Rocco da Silva, Marcelo A Costa Lima, Claudia de Melo Moura, Jorge Luiz Luescher, Ludmila Nascimento Rodrigues Campos, Daniel de Souza E Silva, Márcia Gonçalves Ribeiro","doi":"10.1055/s-0044-1793931","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong> It is believed that genetic factors play a role in the development and severity of neural injury among people with distal symmetrical polyneuropathy (DSP), because some genes are involved in specific biological pathways, acting in different ways in the pathogenic process.</p><p><strong>Objective: </strong> To identify potential associations involving the <i>5,10-methylenetetrahydrofolate reductase</i> (<i>MTHFR</i> C677T) and <i>interleukin 4</i> (<i>IL-4</i> intron 3 variable number of tandem repeats [I3VNTR]) gene polymorphisms and DSP in the studied sample.</p><p><strong>Methods: </strong> In total, 70 children and adolescents with type-1 diabetes underwent a nerve conduction studie (NCS) of the sural nerve. Saliva samples were collected for DNA extraction and genotyping of the <i>MTHFR</i> C677T and <i>IL-4</i> I3VNTR polymorphisms.</p><p><strong>Results: </strong> The prevalence of DSP was 15.71%. The participants with DSP presented higher mean levels of glycated hemoglobin, triglycerides, total cholesterol, and low-density lipoprotein (LDL) (<i>p</i> > 0.05). The NCS amplitudes were lower in individuals with DSP (<i>p</i> = 0.00). The mean conduction velocity was lower in people with the <i>A1A1</i> genotype (<i>p</i> = 0.02). Maternal and paternal history of diabetes in great-grandparents were associated with DSP (<i>p</i> = 0.04 and 0.02, respectively). Glycated hemoglobin and impaired Achilles reflex were associated with the <i>MTHFR</i> <i>CC</i> genotype (<i>p</i> = 0.04 and 0.05 respectively) and high-density lipoprotein (HDL) cholesterol was associated with the <i>MTHFR</i> <i>CT</i> genotype (<i>p</i> = 0.05). We found no association between the polymorphisms investigated and DSP.</p><p><strong>Conclusion: </strong> In the present study, we found no association involving the <i>MTHFR</i> C677T and <i>IL-4</i> I3VNTR polymorphisms and DSP. However, the study provides other associations and suggests possible implications for these findings.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"82 12","pages":"1-9"},"PeriodicalIF":1.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos de neuro-psiquiatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0044-1793931","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/15 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Background: It is believed that genetic factors play a role in the development and severity of neural injury among people with distal symmetrical polyneuropathy (DSP), because some genes are involved in specific biological pathways, acting in different ways in the pathogenic process.
Objective: To identify potential associations involving the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and interleukin 4 (IL-4 intron 3 variable number of tandem repeats [I3VNTR]) gene polymorphisms and DSP in the studied sample.
Methods: In total, 70 children and adolescents with type-1 diabetes underwent a nerve conduction studie (NCS) of the sural nerve. Saliva samples were collected for DNA extraction and genotyping of the MTHFR C677T and IL-4 I3VNTR polymorphisms.
Results: The prevalence of DSP was 15.71%. The participants with DSP presented higher mean levels of glycated hemoglobin, triglycerides, total cholesterol, and low-density lipoprotein (LDL) (p > 0.05). The NCS amplitudes were lower in individuals with DSP (p = 0.00). The mean conduction velocity was lower in people with the A1A1 genotype (p = 0.02). Maternal and paternal history of diabetes in great-grandparents were associated with DSP (p = 0.04 and 0.02, respectively). Glycated hemoglobin and impaired Achilles reflex were associated with the MTHFRCC genotype (p = 0.04 and 0.05 respectively) and high-density lipoprotein (HDL) cholesterol was associated with the MTHFRCT genotype (p = 0.05). We found no association between the polymorphisms investigated and DSP.
Conclusion: In the present study, we found no association involving the MTHFR C677T and IL-4 I3VNTR polymorphisms and DSP. However, the study provides other associations and suggests possible implications for these findings.
期刊介绍:
Arquivos de Neuro-Psiquiatria is the official journal of the Brazilian Academy of Neurology. The mission of the journal is to provide neurologists, specialists and researchers in Neurology and related fields with open access to original articles (clinical and translational research), editorials, reviews, historical papers, neuroimages and letters about published manuscripts. It also publishes the consensus and guidelines on Neurology, as well as educational and scientific material from the different scientific departments of the Brazilian Academy of Neurology.
The ultimate goals of the journal are to contribute to advance knowledge in the areas of Neurology and Neuroscience, and to provide valuable material for training and continuing education for neurologists and other health professionals working in the area. These goals might contribute to improving care for patients with neurological diseases. We aim to be the best Neuroscience journal in Latin America within the peer review system.