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血管周围间隙扩大与脑出血之间的因果关系:一项双样本孟德尔随机化研究。

The causal relationship between enlarged perivascular spaces and intracerebral hemorrhage: A 2-sample Mendelian randomization study.

作者信息

Yan Wentao, He Xiuhua, Hu Guochao, Chen Kui, Wang Guanjun

机构信息

Department of Neurosurgery, Xuchang Central Hospital, Xuchang, China.

Department of Cardiovascular Medicine, Xuchang Central Hospital, Xuchang, China.

出版信息

Medicine (Baltimore). 2025 Jun 6;104(23):e42658. doi: 10.1097/MD.0000000000042658.

DOI:10.1097/MD.0000000000042658
PMID:40489879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12150965/
Abstract

The genetic prediction of the causal relationship between enlarged perivascular spaces (PVS) and intracerebral hemorrhage (ICH). We performed a 2-sample Mendelian randomization (MR) study that used published data from genome-wide association studies on ICH and PVS. We primarily utilized the inverse variance weighted (IVW), MR-Egger, weighted median and weighted mode method. Sensitivity analyses included Cochran Q test, MR-Egger regression, MR-PRESSO global test and leave-one-out analysis. IVW analysis showed no statistical association between genetically predicted enlargement of hippocampal PVS (OR = 0.74, 95% CI = 0.23-2.35, P = .605), basal ganglia PVS (OR = 1.59, 95% CI = 0.64-3.95, P = .318), or white matter PVS (OR = 1.59, 95% CI = 0.64-3.95, P = .318) with the risk of ICH. The results of MR-Egger regression, Weighted Median, and Weighted Mode methods were consistent with those of the IVW method. The sensitivity analyses did not reveal any pleiotropy or heterogeneity. The leave-one-out plots did not found any single mutation that might influence the results. Our findings indicate that there is no causal relationship between PVS enlargement and the development of ICH at the genetic level. Using PVS as a diagnostic marker might lack specificity, needed for the planning of timely diagnostic procedures in the risk populations.

摘要

血管周围间隙(PVS)扩大与脑出血(ICH)之间因果关系的遗传预测。我们进行了一项两样本孟德尔随机化(MR)研究,该研究使用了已发表的关于ICH和PVS的全基因组关联研究数据。我们主要采用了逆方差加权(IVW)、MR-Egger、加权中位数和加权模式方法。敏感性分析包括Cochran Q检验、MR-Egger回归、MR-PRESSO全局检验和留一法分析。IVW分析显示,遗传预测的海马PVS扩大(比值比[OR]=0.74,95%置信区间[CI]=0.23-2.35,P=0.605)、基底节PVS扩大(OR=1.59,95%CI=0.64-3.95,P=0.318)或白质PVS扩大(OR=1.59,95%CI=0.64-3.95,P=0.318)与ICH风险之间无统计学关联。MR-Egger回归、加权中位数和加权模式方法的结果与IVW方法的结果一致。敏感性分析未发现任何多效性或异质性。留一法图未发现任何可能影响结果的单一突变。我们的研究结果表明,在基因水平上,PVS扩大与ICH的发生之间不存在因果关系。将PVS用作诊断标志物可能缺乏特异性,而这是在风险人群中规划及时诊断程序所必需的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d13c/12150965/61ba8985bea7/medi-104-e42658-g005.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d13c/12150965/c7f6f5023af0/medi-104-e42658-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d13c/12150965/047bc6165f23/medi-104-e42658-g003.jpg
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本文引用的文献

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2
The impact of sex on epidemiology, management, and outcome of spontaneous intracerebral hemorrhage (sICH).性别对自发性脑出血(sICH)的流行病学、管理和结局的影响。
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Mendelian randomization analysis identifies a genetic casual association between circulating C-reactive protein and intracerebral hemorrhage.
孟德尔随机化分析确定了循环 C 反应蛋白与脑出血之间的遗传因果关联。
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