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CXCL12 基因多态和血清水平:与立陶宛多发性硬化症患病率和临床参数的关联

Paulius Valiukevicius¹, Kriste Kaikaryte², Greta Gedvilaite-Vaicechauskiene²

¹Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, A. Mickeviciaus 9, 44307 Kaunas, Lithuania.

International journal of molecular sciences

|September 14, 2024

概括

CXCL12 rs1801157单核酸多态性 (SNP) 与男性降低多发性硬化症 (MS) 风险有关. 在女性中,这种SNP与感官症状的流行率和较短的疾病持续时间相关.

科学领域:

遗传学和免疫学遗传学和免疫学
神经科学是一个神经科学.

背景情况:

化学物质CXCL12在免疫细胞贩运中发挥作用,并与多发性硬化症 (MS) 等自身免疫性疾病有关.
在CXCL12基因的遗传变异可能会影响MS易感性和临床表现.

研究的目的:

调查CXCL12单核酸多态 (SNPs) rs1029153,rs1801157和rs2297630与MS患病率,CXCL12蛋白水平和临床参数的相关性.
探索这些SNP对MS的潜在性别特异性影响.
确定CXCL12蛋白度与MS风险或临床特征之间的关系.

主要方法:

在250名多发性硬化患者和250名立陶宛健康对照中使用实时PCR对CXCL12SNP (rs1029153,rs1801157,rs2297630) 的基因定型.
通过ELISA量化血清CXCL12蛋白水平.
统计分析以评估基因型,蛋白质水平,MS几率和临床参数之间的关联,考虑性别差异.

主要成果:

与CC基因型相比,CXCL12 rs1801157 CT基因型与男性多发性硬化症的几率降低了2.3倍 (p=0.011-0.012).
在RS1801157CT基因型的健康个体中,观察到较低CXCL12蛋白的非显著趋势 (p=0.028).
在女性中,rs1801157 TT基因型与较少的感官症状 (p=0.004) 和较短的MS疾病持续时间 (p=0.007) 有关.

结论:

CXCL12 rs1801157 SNP与男性的MS风险降低有关.
在女性中,rs1801157与感官症状流行率和疾病持续时间有关,这表明性别特异性基因对MS的影响.
需要进一步的研究来阐明这些关联背后的功能机制.

关键词:

CXCL12 艾丽莎试验仪在CXCL12SNP中,SNP是最重要的.化学物质化学物质是化学物质.多发性硬化症多发性硬化症

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相关概念视频

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...