系统性红斑狼疮与重症肌无力：一项双向孟德尔随机化研究

郑乾; 余彩遥; 李浩云; 冯占辉

doi:10.16766/j.cnki.issn.1674-4152.003788

系统性红斑狼疮与重症肌无力：一项双向孟德尔随机化研究

doi: 10.16766/j.cnki.issn.1674-4152.003788

贵州医科大学附属医院神经内科，贵州贵阳 550001

基金项目:

国家自然科学基金项目 82360266

详细信息

通讯作者:
冯占辉，E-mail: h9450203@126.com

中图分类号: R593.241 R746.1
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- 文章访问数: 15
- HTML全文浏览量: 9
- PDF下载量: 8
- 被引次数: 0
出版历程
- 收稿日期: 2024-08-17
- 网络出版日期: 2025-01-20

Systemic lupus erythematosus and myasthenia gravis: a bidirectional Mendelian randomization study

Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550001, China

摘要

摘要: 目的研究显示系统性红斑狼疮(SLE)与重症肌无力(MG)临床上可能同时发病。本研究旨在利用双向孟德尔随机化方法探讨SLE与MG之间的潜在因果关系，为临床防治提供依据。方法从全基因关联研究(GWAS)的汇总数据库中分别提取SLE和MG密切相关的遗传位点作为工具变量，提取数据均来自欧洲样本。分别采用IVW、MR-Egger回归和WME的方法进行MR分析，以OR值和95% CI评价SLE与MG之间的因果关系；采用MR-Egger intercept法检测水平多效性，留一法进行敏感性分析。结果 SLE与MG的风险增高相关(OR=1.698，95% CI：1.329～2.171，P<0.001)；同样的MG与SLE的风险增高相关(OR=1.527，95% CI： 1.248～1.869，P<0.001)。双向结果均不存在异质性，均无水平多效性，留一法敏感性分析结果稳定。结论 SLE和MG具有双向因果关系，SLE患者会增加MG的发病风险，MG同样会增加SLE的发病风险。
- 系统性红斑狼疮 /
- 重症肌无力 /
- 孟德尔随机化 /
- 因果关系
Abstract: Objective Studies have shown that systemic lupus erythematosus (SLE) and Myasthenia gravis (MG) may have concurrent onset clinically. This study aims to explore the potential causal relationship between SLE and MG using a bidirectional Mendelian randomization study to provide a basis for clinical prevention and treatment. Methods Genetic data closely related to SLE and MG were extracted from the summary database of genome-wide association studies (GWAS) as instrumental variables, and the extracted data were all from European samples. MR analysis was conducted using IVW, MR-Egger regression, and WME. The causal relationship between SLE and MG was evaluated by the OR value and 95% CI. The MR-Egger intercept method was used to detect horizontal pleiotropy, and the leave-one-out method was used for sensitivity analysis. Results SLE was associated with an increased risk of MG (OR=1.698, 95% CI: 1.329-2.171, P<0.001); similarly, MG was associated with an increased risk of SLE (OR=1.527, 95% CI: 1.248-1.869, P<0.001). There was no heterogeneity in the two-way results and no horizontal pleiotropy. The sensitivity analysis results of the leave-one-out method were stable. Conclusion There is a bidirectional causal relationship between SLE and MG. SLE patients will increase the risk of MG onset, and MG will also increase the risk of SLE onset.
- Systemic lupus erythematosus /
- Myasthenia gravis /
- Mendelian randomization /
- Causality

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图 1 MR分析概述

Figure 1. Overview of MR analysis

下载: 全尺寸图片幻灯片

图 2 因果效应散点图

注：A为SLE对MG因果效应散点图；B为MG对SLE因果效应散点图。

Figure 2. Scatter plot of causal effect

下载: 全尺寸图片幻灯片

图 3 因果效应森林图

注：A为SLE对MG因果效应森林图；B为MG对SLE因果效应森林图。

Figure 3. Forest map of causal effect

下载: 全尺寸图片幻灯片

图 4 因果效应留一法分析结果

注：A为SLE对MG因果效应留一法分析结果；B为MG对SLE因果效应留一法分析结果。

Figure 4. The results of causal effect analysis by the live-one-out method

下载: 全尺寸图片幻灯片

表 1 MR主要分析结果

Table 1. MR main analysis results

暴露	结局	nSNPs	方法	β	OR(95% CI)	P值
SLE	MG	5	IVW	0.530	1.698(1.329~2.171)	< 0.001
			MR-Egger	0.500	1.649(0.640~4.248)	0.377
			Weighted median	0.494	1.638(1.202~2.233)	< 0.001
MG	SLE	6	IVW	0.424	1.527(1.248~1.869)	< 0.001
			MR-Egger	0.536	1.709(1.058~2.761)	0.093
			Weighted median	0.476	1.610(1.281~2.024)	< 0.001

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