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一种pri-miR-182 的基因变异可能会影响伊朗人群多发性硬化症的发病风险。

A genetic variant of pri-miR-182 may impact the risk for the onset of multiple sclerosis in the Iranian population.

机构信息

Department of Biology, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran.

出版信息

Am J Hum Biol. 2020 Nov;32(6):e23415. doi: 10.1002/ajhb.23415. Epub 2020 Mar 25.

Abstract

BACKGROUND

Multiple sclerosis (MS) is the most common autoimmune disease of the central nervous system affecting young adults. SNPs can be used as genetic biomarkers to identify disease-related genes such as MS. Moreover, SNPs can be considered as important determinants for an increased risk of autoimmune diseases such as MS. Studies have shown that miR-182 is of importance in Treg cell development and function as critical regulators in autoimmune disease. So far, no study has been conducted to investigate the association between rs4541843 polymorphism in pri-miR-182 and MS. In the present study, we assessed the frequency of rs4541843 different alleles and genotypes and their association with MS risk in Iranian population.

METHODS

The rs4541843 was genotyped in 81 patients with MS and 89 healthy subjects, using the PCR-RFLP method. The frequency of alleles and genotypes and the association of this polymorphism with MS risk and the gender of the patients was then statistically analyzed.

RESULTS

Statistical analysis showed the protective role of AA genotype against MS risk (P = .031, OR = 0.348) while there was no significance correlation between the frequency of rs4541843 different alleles and the other genotypes.

CONCLUSION

Our findings illustrated that the pri-miR-182 rs4541843 G>A polymorphism is associated with the risk of MS in Isfahan population. However, additional large-scale association studies in various ethnicities and more molecular studies are necessary to elaborate our findings.

摘要

背景

多发性硬化症(MS)是影响年轻人的中枢神经系统最常见的自身免疫性疾病。单核苷酸多态性(SNPs)可作为遗传生物标志物,用于识别与疾病相关的基因,如 MS。此外,SNP 可被视为增加 MS 等自身免疫性疾病风险的重要决定因素。研究表明,miR-182 在调节性 T 细胞(Treg)的发育和功能中起着重要作用,是自身免疫性疾病的关键调节因子。迄今为止,尚未有研究探讨 pri-miR-182 中的 rs4541843 多态性与 MS 之间的关系。本研究旨在评估伊朗人群中 pri-miR-182 中的 rs4541843 不同等位基因和基因型的频率及其与 MS 风险的关系。

方法

采用 PCR-RFLP 方法检测 81 例 MS 患者和 89 例健康对照者 rs4541843 的基因型。然后,对该多态性与 MS 风险及患者性别之间的关系进行统计学分析。

结果

统计分析显示,AA 基因型对 MS 风险具有保护作用(P = 0.031,OR = 0.348),而 rs4541843 不同等位基因的频率与其他基因型之间无显著相关性。

结论

本研究结果表明,pri-miR-182 rs4541843 G>A 多态性与伊斯法罕人群 MS 风险相关。然而,需要在不同种族中进行更大规模的关联研究和更多的分子研究,以进一步阐明我们的研究结果。

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