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CXCR5与IL2RA基因多态性之间的遗传联系以及对多发性硬化症的易感性。

A genetic link between CXCR5 and IL2RA gene polymorphisms and susceptibility to multiple sclerosis.

作者信息

Xia Zong-Li, Qin Qing-Mei, Zhao Qing-Ying

机构信息

a Department of Neurology , Linyi Central Hospital , Linyi , P. R. China.

b Neonatal Intensive Care Unit, Linyi Central Hospital , Linyi , P. R. China.

出版信息

Neurol Res. 2018 Dec;40(12):1040-1047. doi: 10.1080/01616412.2018.1517110.

Abstract

OBJECTIVES

Multiple sclerosis (MS) is a T-cell-mediated disease of the central nervous system that develops in individuals possessing a complex susceptibility trait. We explored relationship between gene polymorphisms in MS.

METHODS

To identify the associations of CXCR5 and IL2RA gene polymorphisms with susceptibility to MS, we recruited 263 MS patients from the Han nationality and 138 from the Hui nationality as MS group and 284 healthy volunteers from the Han nationality and 156 from the Hui nationality as controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to test gene polymorphisms of IL2RA (rs2104286 and rs12722489). Sequenom MassARRAY system was applied to analyze genotyping of CXCR5 (rs3922).

RESULTS

The genotypes and allele frequency distributions at the loci of IL2RA rs2104286 and rs12722489 showed significant differences between the MS and control groups. The gene polymorphisms at the loci of IL2RA rs2104286 and rs12722489 may increase the onset risk of MS. IL2RA-rs2104286 showed a positive relationship with CXCR5-rs3922. The same relationship was also observed between IL2RA-rs12722489 and CXCR5-rs3922. The genotypes and allele frequencies of loci of rs2104286 and rs12722489 were significantly different in MS clinical subtypes and severity (EDSS score). Additionally, CAC and TGC haplotype at rs3922-rs12722489-rs2104286 may reduce the risk of MS, while CGT and TGT haplotypes increase the risk.

CONCLUSION

The gene polymorphisms at the loci of IL2RA rs2104286 and rs12722489 are closely associated with susceptibility to MS in the Han and Hui nationalities.

摘要

目的

多发性硬化症(MS)是一种由T细胞介导的中枢神经系统疾病,在具有复杂易感性特征的个体中发病。我们探究了MS中基因多态性之间的关系。

方法

为了确定CXCR5和IL2RA基因多态性与MS易感性之间的关联,我们招募了263名汉族MS患者和138名回族MS患者作为MS组,以及284名汉族健康志愿者和156名回族健康志愿者作为对照组。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测IL2RA(rs2104286和rs12722489)的基因多态性。应用Sequenom MassARRAY系统分析CXCR5(rs3922)的基因分型。

结果

IL2RA rs2104286和rs12722489位点的基因型和等位基因频率分布在MS组和对照组之间存在显著差异。IL2RA rs2104286和rs12722489位点的基因多态性可能增加MS的发病风险。IL2RA-rs2104286与CXCR5-rs3922呈正相关。IL2RA-rs12722489与CXCR5-rs3922之间也观察到相同的关系。rs2104286和rs12722489位点的基因型和等位基因频率在MS临床亚型和严重程度(扩展残疾状态量表评分)方面存在显著差异。此外,rs3922-rs12722489-rs2104286处的CAC和TGC单倍型可能降低MS风险而CGT和TGT单倍型增加风险。

结论

IL2RA rs2104286和rs12722489位点的基因多态性与汉族和回族MS易感性密切相关。

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