自免疫性疾病中的MTHFR多态:机理学和临床视角
Ting Sun1, Yuxian Wu2, Lingyun Kong3
1Department of Clinical Genetics, Changzheng Hospital, Naval Medical University, Shanghai, China; School of Medicine, Shanghai University, Shanghai, China; Department of Critical Care Medicine, Naval Medical Center of PLA, Naval Medical University, Shanghai, China.
Autoimmunity reviews
|October 13, 2025
概括
常见的MTHFR基因变异 (C677T和A1298C) 影响叶酸代谢,并与自身免疫性疾病有关. 了解这些MTHFR基因变异可以改善自身免疫性疾病风险评估和治疗.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 分子生物学分子生物学
- 临床医学 临床医学
背景情况:
- 甲基四叶酸减少酶 (MTHFR) 酶对于叶酸代谢,同类蛋白调节和单碳通路至关重要.
- 常见的MTHFR基因多态,C677T和A1298C,与各种健康状况有关.
研究的目的:
- 审查MTHFR C677T和A1298C多态性在自身免疫病原发生的机制和临床相关性.
- 分析这些MTHFR变异与自身免疫性疾病易感性,临床特征和治疗反应的关联.
主要方法:
- 对当前科学文献进行系统审查.
- 对与MTHFR多态和自身免疫性疾病有关的遗传关联,分子机制和临床数据的分析.
- 检查药物基因组相互作用,特别是在甲状腺素治疗中.
主要成果:
- MTHFR多态性导致炎症,内皮功能障碍,免疫失调以及与自身免疫相关的表观遗传变化.
- 在MTHFR变异和易受八种不同的自身免疫性疾病之间存在人口特异性关联.
- 基因型-表型相关性揭示了与临床表现,并发症和甲状腺素反应的联系.
结论:
- 在自身免疫和免疫媒介炎症疾病中,MTHFR基因型定型有可能改善风险分层.
- 针对自身免疫性疾病的个性化治疗策略可能受益于考虑MTHFR基因状态.
- 结合遗传,分子和临床数据的进一步研究可以优化患者管理.
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