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多发性硬化症中、和基因的单核苷酸多态性分析 。(你提供的原文似乎不完整,有缺失部分内容)

Analysis of Single Nucleotide Polymorphisms in , and Genes in Multiple Sclerosis.

作者信息

Asouri Mohsen, Alinejad Rokni Hamid, Sahraian Mohammad Ali, Fattahi Sadegh, Motamed Nima, Doosti Rozita, Rahimi Hamzeh, Lotfi Maryam, Moslemi Azam, Karimpoor Morteza, Mahboudi Fereidoun, Akhavan-Niaki Haleh

机构信息

Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.

North Research Center, Pasteur Institute of Iran, Amol, Iran.

出版信息

Rep Biochem Mol Biol. 2020 Jul;9(2):198-208. doi: 10.29252/rbmb.9.2.199.

Abstract

BACKGROUND

Multiple sclerosis (MS) is a common demyelinating neurodegenerative disorder with significant heritability. Previous studies have associated genetic variants in human leukocyte antigen complex, , and genes with the pathophysiology of MS.

METHODS

In order to investigate the gene association in the Iranian population, we performed a genotyping study of 36 variants in the mentioned genes using Sanger sequencing in 102 MS patients and 113 healthy controls.

RESULTS

Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms including rs4935356, rs3177928, and rs7197 from gene, and rs12722489 and rs12722490 variants from gene (p< 0.05). Moreover, the strong linkage disequilibrium of two common haplotypes was estimated from the gene.

CONCLUSION

This association study may suggest the role of these polymorphisms in the genetic susceptibility of MS in the Iranian population and would facilitate the recognition of causative variants in this disease.

摘要

背景

多发性硬化症(MS)是一种常见的具有显著遗传倾向的脱髓鞘神经退行性疾病。先前的研究已将人类白细胞抗原复合体、 、 基因中的遗传变异与MS的病理生理学联系起来。

方法

为了研究伊朗人群中的基因关联,我们使用桑格测序法对102例MS患者和113名健康对照者中上述基因的36个变异进行了基因分型研究。

结果

我们的结果在一些研究的单核苷酸多态性中发现了显著关联以及显著的等位基因频率差异,包括来自 基因的rs4935356、rs3177928和rs7197,以及来自 基因的rs12722489和rs12722490变异(p < 0.05)。此外,从 基因估计了两种常见单倍型的强连锁不平衡。

结论

这项关联研究可能表明这些多态性在伊朗人群MS遗传易感性中的作用,并将有助于识别该疾病的致病变异。

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