Yang Mingyi, Su Yani, Xu Ke, Wen Pengfei, Xie Jiale, Wan Xianjie, Jing Wensen, Yang Zhi, Liu Lin, Xu Peng
Department of Joint Surgery, HongHui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, 710054, China.
Xi'an Key Laboratory of Pathogenesis and Precision Treatment of Arthritis, Xi'an, Shaanxi, 710054, China.
Aging Clin Exp Res. 2025 Jan 21;37(1):30. doi: 10.1007/s40520-025-02927-7.
Osteoarthritis (OA) represents a condition under the influence of central nervous system (CNS) regulatory mechanisms. This investigation aims to examine the causal association between viral infections of the central nervous system (VICNS) and inflammatory diseases of the central nervous system (IDCNS) and knee osteoarthritis (KOA) at the genetic level.
In this investigation, VICNS and IDCNS were considered as primary exposure variables, while KOA served as the primary outcome. Employing a two-sample mendelian randomization (MR) approach, we conducted an analysis utilizing summary data derived from genome-wide association studies (GWAS). The GWAS summary data pertaining to VICNS and IDCNS were procured from the Finnish consortium, whereas the IEU OpenGWAS database furnished the requisite data for KOA. To ensure the robustness of our genetic causal assessment, a comprehensive array of sensitivity analyses was undertaken, encompassing evaluations of heterogeneity, horizontal pleiotropy, outlier identification, leave-one-out analyses, and assessment of the normal distribution.
The results of the MR analyses revealed a suggestive positive genetic causal relationship between VICNS and KOA (P = 0.012, odds ratio [OR] with a 95% confidence interval [CI] of 1.033 [1.007-1.059]). Conversely, the MR analyses did not indicate any evidence of genetic causation between IDCNS and KOA (P = 0.575, OR 95% CI = 0.986 [0.940-1.035]). Importantly, the genetic causal assessment of the exposure and outcome variables did not demonstrate any indications of heterogeneity, horizontal pleiotropy, or outliers. Furthermore, this assessment remained robust against the influence of individual single nucleotide polymorphisms (SNPs) and exhibited adherence to a normal distribution.
The result of this study has elucidated a suggestive positive genetic causal link between the VICNS and KOA. However, no such genetic causal relationship was observed between the IDCNS and KOA. These findings substantiate the genetic underpinnings supporting the association between the CNS and OA.
骨关节炎(OA)是一种受中枢神经系统(CNS)调节机制影响的疾病。本研究旨在在基因水平上研究中枢神经系统病毒感染(VICNS)与中枢神经系统炎症性疾病(IDCNS)和膝关节骨关节炎(KOA)之间的因果关系。
在本研究中,VICNS和IDCNS被视为主要暴露变量,而KOA作为主要结局。采用两样本孟德尔随机化(MR)方法,利用来自全基因组关联研究(GWAS)的汇总数据进行分析。与VICNS和IDCNS相关的GWAS汇总数据来自芬兰联盟,而IEU OpenGWAS数据库提供了KOA所需的数据。为确保我们的基因因果评估的稳健性,进行了一系列全面的敏感性分析,包括异质性评估、水平多效性评估、异常值识别、留一法分析和正态分布评估。
MR分析结果显示VICNS与KOA之间存在提示性的正基因因果关系(P = 0.012,优势比[OR],95%置信区间[CI]为1.033[1.007 - 1.059])。相反,MR分析未显示IDCNS与KOA之间存在基因因果关系的任何证据(P = 0.575,OR 95% CI = 0.986[0.940 - 1.035])。重要的是,暴露和结局变量的基因因果评估未显示任何异质性、水平多效性或异常值的迹象。此外,该评估对单个单核苷酸多态性(SNP)的影响具有稳健性,并呈现出正态分布。
本研究结果阐明了VICNS与KOA之间存在提示性的正基因因果联系。然而,未观察到IDCNS与KOA之间存在这种基因因果关系。这些发现证实了支持CNS与OA之间关联的遗传基础。