在中国人口中,MEF2家族基因多态化与对多发性硬化症的易感性之间存在关联
Lei Wu1, Bo Liu2, Yanbing Wei3
1Department of Neurology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, 310000, China.
Acta neurologica Belgica
|August 12, 2023
概括
MEF2D基因的遗传变异,特别是rs2274316和rs3790455,与患多发性硬化症 (MS) 的风险增加有关. 在MS患者中,MEF2D基因表达也更高,这表明它在疾病易感性方面的作用.
科学领域:
- 免疫遗传学 免疫遗传学
- 神经免疫学 神经免疫学
- 分子生物学分子生物学
背景情况:
- 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.
- 肌细胞增强因子2 (MEF2) 基因家族与免疫反应有关.
- 了解导致MS易感性的遗传因素对于开发向疗法至关重要.
研究的目的:
- 调查MEF2D和MEF2C基因中的多态化与患MS的风险之间的关联.
- 评估MEF2D基因表达水平与MS之间的相关性.
- 确定中国人群中MS的潜在遗传风险因素.
主要方法:
- 病例控制研究涉及174名多发性硬化患者和120名健康对照.
- 聚合酶连锁反应-限制片段长度多态化 (PCR-RFLP) 用于基因型定制MEF2D和MEF2C.
- 定量实时PCR (qRT-PCR) 用于测量外围血液白细胞中MEF2D转录水平.
主要成果:
- 在MS和MEF2D中rs2274316的C等位基因/CC基因型,以及rs3790455.5的C等位基因/CT基因型之间发现了显著的关联.
- 在MS患者的白细胞中,MEF2D显著过度表达,特别是在具有CC基因型rs2274316.6的患者中.
- 没有观察到这些多态度与发病年龄或MS表型之间的相关性.
结论:
- 在中国人群中,MEF2D基因多态 rs2274316和rs3790455是MS的潜在遗传风险因素.
- 较高的MEF2D转录水平与MS易感性和MEF2D基因多态性有关.
- 这些发现突显了MEF2D在多发性硬化症的发病过程中的作用.
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