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5-羟色胺转运体基因(5HTT)多态性与颞叶癫痫。

Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy.

机构信息

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Ramiro Barcelos 2350, Porto Alegre, Brazil.

出版信息

Epilepsy Res. 2011 Jun;95(1-2):152-7. doi: 10.1016/j.eplepsyres.2011.03.013. Epub 2011 Apr 16.

Abstract

OBJECTIVE

Preclinical and clinical studies have shown that serotonin levels might modulate susceptibility to seizures. Here we evaluated an association between 5HTTLPR and 5HTTVNTR allele variants in serotonin transporter gene and epileptogenesis in temporal lobe epilepsy (TLE).

METHODS

A case-control candidate gene study evaluating the frequencies of 5HTTLPR biallelic and 5HTTVNTR allele variants in patients and healthy subjects. Genotypes were grouped according to transcriptional efficiency. Cases were 175 patients with TLE selected from the Epilepsy Outpatient Clinic of Hospital de Clínicas de Porto Alegre, classified according to the electroclinical classification of the ILAE and neuroimaging findings. The control group consisted of 155 healthy unrelated subjects selected from the same population.

RESULTS

We observed that less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in epileptic patients (O.R.=3.24; 95% C.I.=1.08-9.73; p=0.036). Our results suggest that less efficient transcriptional genotypes for serotonin transporter gene are associated with TLE.

CONCLUSION

In this study we observed an association between the presence of 5HTTLPR and 5-HTTVNTR less transcriptional efficient combined genotypes and TLE. Our results suggest that modulation of the serotoninergic system might be implied in epileptogenesis in TLE.

摘要

目的

临床前和临床研究表明,血清素水平可能调节癫痫易感性。在这里,我们评估了血清素转运体基因中 5HTTLPR 和 5HTTVNTR 等位基因变体与颞叶癫痫(TLE)发病机制之间的关联。

方法

这是一项病例对照候选基因研究,评估了 5HTTLPR 双等位基因和 5HTTVNTR 等位基因变体在患者和健康受试者中的频率。根据转录效率对基因型进行分组。病例为来自 Porto Alegre 临床医院癫痫门诊的 175 名 TLE 患者,根据 ILAE 的电临床分类和神经影像学发现进行分类。对照组由来自同一人群的 155 名健康无关受试者组成。

结果

我们观察到,5-HTT 多态性的转录效率较低的基因型在癫痫患者中更为常见(O.R.=3.24;95% C.I.=1.08-9.73;p=0.036)。我们的结果表明,血清素转运体基因的转录效率较低的基因型与 TLE 相关。

结论

在这项研究中,我们观察到存在 5HTTLPR 和 5-HTTVNTR 联合低转录效率基因型与 TLE 之间存在关联。我们的结果表明,血清素能系统的调节可能与 TLE 中的癫痫发生有关。

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