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骨关节炎中的遗传生物标志物和循环白细胞:生物信息学和孟德尔随机化分析

Yimin Pan¹, Xiaoshun Sun¹, Jun Tan^1,2

¹Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha 410017, China.

|January 25, 2025

概括

增加的中性粒细胞数量可能会保护人免受骨关节炎 (OA),这表明免疫系统参与了这种疾病. 像CD4,CSF1R和TYROBP这样的关键基因显示了OA的诊断潜力.

科学领域:

遗传学和免疫学遗传学和免疫学
生物信息学是一种生物信息学.
生物标志物发现发现

背景情况:

骨关节炎 (OA) 是一种广泛的退行性关节疾病,影响生活质量.
骨关节炎的复杂病原体需要识别新的生物标志物用于研究和临床应用.

研究的目的:

通过综合生物信息学分析,识别与OA相关的新型基因和潜在生物标志物.
使用孟德尔随机化研究循环白细胞 (WBC) 计数和OA风险之间的潜在因果关系.

主要方法:

从GEO数据库中集成的转录组数据与生物信息学工具 (Limma,WGCNA,PPI网络,机器学习).
利用全基因组关联研究 (GWAS) 的数据用于OA和循环WBC计数.
采用了四种门德尔随机化 (MR) 方法,主要是反向方差加权 (IVW),以评估遗传关联.

主要成果:

确定了233个与OA相关的基因,富含与WBC功能相关的途径.
关键生物标志物CD4,CSF1R和TYROBP在OA中被上调,并显示出诊断潜力.
核磁共振分析表明,中性粒细胞计数升高与降低骨关节炎风险 (IVW:OR=0.97,p=0.047) 和关节炎风险 (中性粒细胞IVW:OR=0.93,p=0.017) 有遗传关联.

结论:

增加的中性粒细胞数量可能会对OA产生保护作用,突出显示免疫系统在OA发病过程中的相互作用.
CD4,CSF1R和TYROBP是OA的有希望的生物标志物,需要在前性研究中进一步验证.

关键词:

生物标志物生物标志物循环的白细胞是循环中的白细胞.门德尔的随机化是门德尔的随机化中性粒细胞中性粒细胞.骨关节炎是一种关节炎.

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