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遗传多态性对急性脑损伤患者癫痫风险的影响:系统评价。

Impact of genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: A systematic review.

机构信息

Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, USA.

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.

出版信息

Eur J Neurol. 2023 Jun;30(6):1791-1800. doi: 10.1111/ene.15777. Epub 2023 Mar 23.

Abstract

BACKGROUND AND PURPOSE

The genetics of late seizure or epilepsy secondary to traumatic brain injury (TBI) or stroke are poorly understood. We undertook a systematic review to test the association of single-nucleotide polymorphisms (SNPs) with the risk of post-traumatic epilepsy (PTE) and post-stroke epilepsy (PSE).

METHODS

We followed methods from our prespecified protocol on PROSPERO to identify indexed articles for this systematic review. We collated the association statistics from the included articles to assess the association of SNPs with the risk of epilepsy amongst TBI or stroke patients. We assessed study quality using the Q-Genie tool. We report odds ratios (OR) and hazard ratios with 95% confidence intervals (CIs).

RESULTS

The literature search yielded 420 articles. We included 16 studies in our systematic review, of which seven were of poor quality. We examined published data on 127 SNPs from 32 genes identified in PTE and PSE patients. Eleven SNPs were associated with a significantly increased risk of PTE. Three SNPs, TRMP6 rs2274924, ALDH2 rs671, and CD40 -1C/T, were significantly associated with an increased risk of PSE, while two, AT1R rs12721273 and rs55707609, were significantly associated with reduced risk. The meta-analysis for the association of the APOE ɛ4 with PTE was nonsignificant (OR 1.8, CI 0.6-5.6).

CONCLUSIONS

The current evidence on the association of genetic polymorphisms in epilepsy secondary to TBI or stroke is of low quality and lacks validation. A collaborative effort to pool genetic data linked to epileptogenesis in stroke and TBI patients is warranted.

摘要

背景与目的

创伤性脑损伤(TBI)或中风继发迟发性癫痫或癫痫的遗传学仍知之甚少。我们进行了一项系统综述,以检验单核苷酸多态性(SNPs)与创伤后癫痫(PTE)和中风后癫痫(PSE)风险之间的关联。

方法

我们遵循 PROSPERO 预先制定的方案中的方法,以确定该系统综述的索引文章。我们汇总了纳入文章中的关联统计数据,以评估 SNPs 与 TBI 或中风患者癫痫风险的关联。我们使用 Q-Genie 工具评估研究质量。我们报告比值比(OR)和 95%置信区间(CI)的风险比。

结果

文献检索产生了 420 篇文章。我们的系统综述纳入了 16 项研究,其中 7 项研究质量较差。我们检查了 PTE 和 PSE 患者中确定的 32 个基因的 127 个 SNPs 的已发表数据。11 个 SNP 与 PTE 的风险显著增加相关。三个 SNP,TRMP6 rs2274924、ALDH2 rs671 和 CD40-1C/T,与 PSE 的风险增加显著相关,而两个 SNP,AT1R rs12721273 和 rs55707609,与风险降低显著相关。APOE ɛ4 与 PTE 关联的荟萃分析无统计学意义(OR 1.8,CI 0.6-5.6)。

结论

目前关于 TBI 或中风继发癫痫的遗传多态性关联的证据质量较低且缺乏验证。有必要合作汇集与中风和 TBI 患者癫痫发生相关的遗传数据。

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