Suppr超能文献

SLC6A4 基因变异与颞叶癫痫易感性的关系:荟萃分析。

SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis.

机构信息

Consultorio de Neurogenetica, Centro Universitario de Neurologia, Hospital JM Ramos Mejia, IBCN Eduardo de Robertis, CONICET, Urquiza 609 (1221), Buenos Aires, Argentina.

出版信息

Mol Biol Rep. 2012 Dec;39(12):10615-9. doi: 10.1007/s11033-012-1949-5. Epub 2012 Oct 14.

Abstract

There seems to be a role for serotoninergic neuro-transmission in the pathophysiology of the epilepsies. Different groups have studied the role of regulatory variants in the SLC6A4 gene, which code for the central serotonin transporter, in the complex genetics of temporal lobe epilepsy (TLE) obtaining contradictory findings. Therefore, a systematic review and critical analysis of this topic seem to be timely. Published studies up to October 2011 of TLE and the SLC6A4 promoter and intron 2 variant number repeat polymorphisms (VNTR) were identified by searches of Medline, Scopus and ISI-Web of Sciences databases. Meta-analysis of TLE case-control data were performed to assess the association of SLC6A4 VNTRs with TLE susceptibility. Pooled odds ratios were estimated by means of a genetic-model-free approach. The quality of the included studies was assessed by a score. The studies included compared a total of 991 TLE cases and 1,202 controls. We did not find synthetic evidence of association between SLC6A4 promoter and intron 2 variants and the risk of TLE. However, the intron 2 VNTR seems to have opposite effects in different populations. In this meta-analysis our findings were inconclusive in order to associate any of the 5-HT receptor gene variants with the risk of TLE.

摘要

似乎 5-羟色胺能神经传递在癫痫的病理生理学中起作用。不同的研究小组研究了编码中枢 5-羟色胺转运体的 SLC6A4 基因的调节变异在颞叶癫痫(TLE)的复杂遗传学中的作用,得到了相互矛盾的发现。因此,对这一主题进行系统的回顾和批判性分析似乎是及时的。通过对 Medline、Scopus 和 ISI-Web of Sciences 数据库的搜索,确定了截至 2011 年 10 月发表的关于 TLE 和 SLC6A4 启动子和内含子 2 变异数重复多态性(VNTR)的研究。对 TLE 病例对照数据进行荟萃分析,以评估 SLC6A4 VNTR 与 TLE 易感性的关联。通过无遗传模型的方法估计合并优势比。通过评分评估纳入研究的质量。这些研究共比较了 991 例 TLE 病例和 1202 例对照。我们没有发现 SLC6A4 启动子和内含子 2 变异与 TLE 风险之间存在关联的综合证据。然而,内含子 2 VNTR 在不同人群中似乎有相反的作用。在这项荟萃分析中,我们的研究结果没有得出任何 5-羟色胺受体基因变异与 TLE 风险相关的结论。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验