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GABRG2 rs211037 polymorphism and epilepsy: A systematic review and meta-Analysis

机译:GABRG2 rs211037基因多态性与癫痫:系统评价和荟萃分析

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Purpose: The gamma-Aminobutyric acid A receptor, gamma 2 (GABRG2) gene encodes the GABRγ2 protein, which has been implicated in susceptibility to epilepsy. Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptibility to febrile seizure (FS) and idiopathic generalized epilepsy (IGE), however results have been inconclusive. We therefore performed a systematic review and meta-Analysis to examine whether this polymorphism is associated with FS or IGE. Methods: Eight studies comprising 1871 epilepsy patients and 1387 controls, which evaluated association of the GABRG2 rs211037 polymorphism with susceptibility to epilepsy, were included in this meta-Analysis. Meta-Analysis was carried out separately for FS and IGE. Results: Meta-Analysis showed a significant association between this polymorphism and susceptibility to FS in a codominant (TT vs. CC, OR 0.47, 95% CI 0.30-0.73, p = 0.0008 and TT vs. CT, OR 0.59, 95% CI 0.42-0.83, p = 0.003) and dominant (OR 0.54, 95% CI 0.39-0.75, p = 0.0002) genetic models, influenced by two studies with small sample size. Neither allele nor genotype association was observed with IGE. Conclusion: This study showed significant association of GABRG2 rs211037 with susceptibility to FS, caused by two studies with small sample sizes, however the possibility of false positive results due to the effect of significant studies for FS cannot be excluded. Future studies with larger sample sizes of these patients are suggested to verify the results.
机译:目的:γ-氨基丁酸A受体gamma 2(GABRG2)基因编码GABRγ2蛋白,该蛋白与癫痫易感性有关。多项研究检查了外显子GABRG2 rs211037基因座与高热惊厥(FS)和特发性全身性癫痫(IGE)的易感性之间的可能联系,但是结果尚无定论。因此,我们进行了系统的综述和荟萃分析,以检查这种多态性是否与FS或IGE相关。方法:该荟萃分析包括八项研究,包括1871名癫痫患者和1387名对照,这些研究评估了GABRG2 rs211037基因多态性与癫痫易感性的关系。对FS和IGE分别进行荟萃分析。结果:荟萃分析显示,这种多态性与显性相关的FS易感性(TT vs. CC,OR 0.47,95%CI 0.30-0.73,p = 0.0008,TT vs. CT,OR 0.59,95%CI) 0.42-0.83,p = 0.003)和显性(OR 0.54,95%CI 0.39-0.75,p = 0.0002)遗传模型,受两项研究的影响,样本量较小。 IGE未观察到等位基因或基因型关联。结论:这项研究表明,GABRG2 rs211037与FS易感性之间存在显着相关性,这是由两项样本量较小的研究引起的,但是不能排除由于对FS进行重要研究而产生假阳性结果的可能性。建议对这些患者进行更大样本量的未来研究以验证结果。

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