介素-17F (rs763780) 单核酸多态与多发性硬化症和视神经炎的关联
Shereen Salah1, Yousra I Sadeq1, Youssef M Mosaad2
1Clinical Immunology Unit, Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Scientific reports
|June 13, 2024
概括
IL-17F rs763780 C等位基因和CT/CC基因型与埃及人,特别是女性多发性硬化症 (MS) 风险增加有关. 这种多态性也与视神经炎和疾病严重程度指标相关.
科学领域:
- 免疫遗传学 免疫遗传学
- 神经学 神经学
- 遗传流行病学遗传流行病学
背景情况:
- 介素-17F (IL-17F) 单核酸多态 (SNPs) 影响基因表达和活性,可能增加对自身免疫性疾病的易感性.
- 多发性硬化症 (MS) 是一种慢性自身免疫性疾病,影响中枢神经系统.
研究的目的:
- 在埃及队列中调查IL-17F rs763780 SNP和MS发展之间的关联.
- 评估这种多态性对MS疾病过程和临床表现的影响.
主要方法:
- 在231名埃及参与者 (102名多发性硬化患者,129名对照患者) 中使用TaqMan测定对IL-17Frs763780多态的基因定型.
- 统计分析包括比较频率分析和多变量回归,以评估与疾病状态,临床特征和严重程度的关联.
主要成果:
- 在MS患者中,IL-17F rs763780 C等位基因和CT/CC基因型的发生率明显高于对照组 (p=0.004,p=0.005).
- 这种关联在女性多发性硬化症患者中尤为明显 (p=0.006,p=0.005).
- CT基因型与更高的视神经炎发病率有关 (p=0.038),吸烟与增加的发作频率和更高的EDSS分数相关 (p=0.049,p=0.032).
结论:
- IL-17F rs763780 C等位基因和CT/CC基因型可能代表埃及人患MS的风险因素,潜在的性别依赖机制有利于女性.
- CT基因型与视神经炎有关,疾病严重性指标如发作频率和EDSS得分与吸烟和潜在的多态性有关.
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