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门德尔的随机化和AlphaFold3分析表明,在Graves病中,可能存在因果性血蛋白

Bin Deng¹, Zhanlin Liao¹, Liangzhi Huang¹

¹Department of Endocrinology and Metabolism, Nanping First Affiliated Hospital of Fujian Medical University, Nanping, P. R. China.

Journal of bioinformatics and computational biology

|December 17, 2025

概括

这项研究使用孟德尔的随机化确定了23种与格雷夫斯病 (GD) 有因果关系的血蛋白. 卡塞普辛S (CTSS) 被强调为治疗标,降低CTSS水平可能导致GD的发病.

科学领域:

遗传学是一个遗传学.
免疫学免疫学免疫学
生物化学生物化学

背景情况:

格雷夫斯病 (GD) 是一种普遍存在的自身免疫性疾病,其因果蛋白驱动因素尚不清楚.
循环蛋白质的遗传验证对于开发向的GD疗法至关重要.

研究的目的:

为了确定在Graves病病原发生过程中基因支持的因果性血蛋白.
探索候选因果蛋白中的遗传变异的功能和结构影响.

主要方法:

对4907个血蛋白和GD GWAS数据进行双样本门德尔随机化 (MR) 分析.
蛋白与蛋白相互作用 (PPI) 网络分析和AlphaFold3结构建模.
在 cathepsin S (CTSS) 中对一个关键变体 (rs41271951) 的分析.

主要成果:

核磁共振检测发现了23种可能导致GD风险的血蛋白,CD5L显示强烈的同位素化.
网络分析揭示了GD中一个新的补充-ECM-凝血轴,CTSS作为一个中心枢纽.
AlphaFold3建模表明,CTSS中的rs41271951变异可能会降低蛋白质分泌和循环.

结论:

一个新的补充-ECM-凝血轴被提议用于Graves病的病原体.
与遗传变异相关的减少甲素S (CTSS) 丰度和分泌量与GD有关.
已确定CTSS是格雷夫斯病的潜在治疗重定位候选人.

关键词:

在Alphafold3中使用.格雷夫斯的疾病.门德尔的随机化血蛋白质组学研究翻译医学是一种翻译医学.

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