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白细胞介素4和亚甲基四氢叶酸还原酶基因多态性与年轻糖尿病患者远端对称性多发性神经病变的关联

Association of interleukin 4 and MTHFR gene polymorphisms with distal symmetrical polyneuropathy in young diabetics.

作者信息

Silva Raquel Garcia Rocco da, Lima Marcelo A Costa, Moura Claudia de Melo, Luescher Jorge Luiz, Campos Ludmila Nascimento Rodrigues, Silva Daniel de Souza E, Ribeiro Márcia Gonçalves

机构信息

Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.

Instituto Federal do Rio de Janeiro, Departamento de Saúde, Rio de Janeiro RJ, Brazil.

出版信息

Arq Neuropsiquiatr. 2024 Dec;82(12):1-9. doi: 10.1055/s-0044-1793931. Epub 2024 Dec 15.

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 ( C677T) and ( 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 C677T and 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) ( > 0.05). The NCS amplitudes were lower in individuals with DSP ( = 0.00). The mean conduction velocity was lower in people with the genotype ( = 0.02). Maternal and paternal history of diabetes in great-grandparents were associated with DSP ( = 0.04 and 0.02, respectively). Glycated hemoglobin and impaired Achilles reflex were associated with the genotype ( = 0.04 and 0.05 respectively) and high-density lipoprotein (HDL) cholesterol was associated with the genotype ( = 0.05). We found no association between the polymorphisms investigated and DSP.

CONCLUSION

In the present study, we found no association involving the C677T and I3VNTR polymorphisms and DSP. However, the study provides other associations and suggests possible implications for these findings.

摘要

背景

人们认为遗传因素在远端对称性多发性神经病(DSP)患者的神经损伤发展和严重程度中起作用,因为一些基因参与特定的生物学途径,在致病过程中以不同方式发挥作用。

目的

在研究样本中确定涉及(C677T)和(内含子3串联重复序列可变数目[I3VNTR])基因多态性与DSP的潜在关联。

方法

总共70名1型糖尿病儿童和青少年接受了腓肠神经的神经传导研究(NCS)。收集唾液样本用于DNA提取以及C677T和I3VNTR多态性的基因分型。

结果

DSP的患病率为15.71%。患有DSP的参与者糖化血红蛋白、甘油三酯、总胆固醇和低密度脂蛋白(LDL)的平均水平较高(P>0.05)。DSP患者的NCS振幅较低(P=0.00)。基因型为的人的平均传导速度较低(P=0.02)。曾祖父母的母系和父系糖尿病家族史与DSP相关(分别为P=0.04和0.02)。糖化血红蛋白和跟腱反射减弱与基因型相关(分别为P=0.04和0.05),高密度脂蛋白(HDL)胆固醇与基因型相关(P=0.05)。我们未发现所研究的多态性与DSP之间存在关联。

结论

在本研究中,我们未发现C677T和I3VNTR多态性与DSP之间存在关联。然而,该研究提供了其他关联,并对这些发现提出了可能的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/398b/11646667/c381f3bcb383/10-1055-s-0044-1793931-i240054-1.jpg

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