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冲动性与癫痫:一项双向孟德尔随机化研究。

Impulsivity and epilepsy: a bidirectional mendelian randomization study.

作者信息

Chen Tao, Liao Yuqi, Hong Peiwei

机构信息

Department of Neurology, West China School of Public Health and West China Fourth Hospital, Sichuan University, 18th, Section 3, Renmin Road South, Wuhou District, Chengdu, 610041, China.

出版信息

Acta Epileptol. 2024 Oct 15;6(1):32. doi: 10.1186/s42494-024-00181-4.

DOI:10.1186/s42494-024-00181-4
PMID:40217392
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11960367/
Abstract

BACKGROUND

Previous studies have found that patients with epilepsy are more likely to suffer impulsivity. However, the causal relationship between impulsivity and epilepsy is unknown. In this study, we conduct a bidirectional Mendelian randomization (MR) study to explore the causal relationship between impulsivity and epilepsy with recurrent seizure.

METHODS

Data of the genome-wide association studies (GWAS) on 14 impulsivity traits and epilepsy were obtained from the GWAS catalog and UK Biobank. Inverse-variance weighted (IVW) and weighted median (WM) methods were utilized for MR estimates. IVW, MR-Egger regression, and MR-pleiotropy residual sum and outlier (MR-PRESSO) methods were used to assess heterogeneity and pleiotropy.

RESULTS

Single-nucleotide polymorphisms (SNPs) related to the lack of perseverance were associated with a decreased risk of epilepsy with recurrent seizures according to the results of IVW (odd ratio [OR] = 0.93, 95% confident interval [CI] = 0.90-0.97, P = 0.001) and WM (OR = 0.93, 95%CI = 0.87-0.98, P = 0.007). Meanwhile, heterogeneity was not observed with a Cochran Q-derived P value of 0.819 for MR egger and a P value of 0.808 for IVW. Pleiotropy was not found according to the MR-PRESSO (P = 0.273). The other 13 impulsivity traits had no causal effect on epilepsy with recurrent seizures. Meanwhile, SNPs related with epilepsy with recurrent seizures had no causal effect on the 14 impulsivity traits.

CONCLUSIONS

This MR study suggests that lack of perseverance may be a protective factor against epilepsy with recurrent seizures. However, epilepsy with recurrent seizures does not affect impulsivity.

摘要

背景

既往研究发现癫痫患者更易出现冲动性。然而,冲动性与癫痫之间的因果关系尚不清楚。在本研究中,我们进行了一项双向孟德尔随机化(MR)研究,以探讨冲动性与复发性癫痫之间的因果关系。

方法

从全基因组关联研究(GWAS)目录和英国生物银行获取了关于14种冲动性特征和癫痫的全基因组关联研究数据。采用逆方差加权(IVW)和加权中位数(WM)方法进行MR估计。使用IVW、MR-Egger回归和MR-多效性残差和异常值(MR-PRESSO)方法评估异质性和多效性。

结果

根据IVW(比值比[OR]=0.93,95%置信区间[CI]=0.90-0.97,P=0.001)和WM(OR=0.93,95%CI=0.87-0.98,P=0.007)的结果,与缺乏毅力相关的单核苷酸多态性(SNP)与复发性癫痫风险降低相关。同时,MR egger的Cochran Q导出P值为0.819,IVW的P值为0.808,未观察到异质性。根据MR-PRESSO(P=0.273)未发现多效性。其他13种冲动性特征对复发性癫痫无因果效应。同时,与复发性癫痫相关的SNP对14种冲动性特征无因果效应。

结论

这项MR研究表明,缺乏毅力可能是复发性癫痫的一个保护因素。然而,复发性癫痫并不影响冲动性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d755/11960367/cb609bb1d58a/42494_2024_181_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d755/11960367/768396bbbe90/42494_2024_181_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d755/11960367/cb609bb1d58a/42494_2024_181_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d755/11960367/768396bbbe90/42494_2024_181_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d755/11960367/cb609bb1d58a/42494_2024_181_Fig2_HTML.jpg

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