Department of Neurosurgery, First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, Jiangsu 210029, China.
Gene. 2014 Jan 1;533(1):26-31. doi: 10.1016/j.gene.2013.09.071. Epub 2013 Sep 27.
Evidence showed that the SCN1A IVS5N+5G>A polymorphism might be associated with susceptibility to epilepsy with febrile seizures (EFS), however, the published data were inconclusive. Therefore, a meta-analysis was performed to estimate the overall EFS risk with the polymorphism.
The PubMed and Medline were searched up to March, 2013 for studies on the association between SCN1A IVS5N+5G>A polymorphism and EFS risk. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by means of a genetic model free approach. The heterogeneity and sensitivity of each report and the publication bias were also performed. All the statistical analyses were done using the STATA 11.0 software.
A total of 6 studies with 2719 cases and 2317 controls met the selection criteria. We found significant association between SCN1A polymorphism and EFS (A vs. G: OR=1.498, 95%CI=1.138-1.972; AA vs. GG: OR=2.292, 95%CI=1.620-3.243; AG vs. GG: OR=1.414, 95%CI=1.010-1.978; recessive model: OR=1.747, 95%CI=1.119-2.728 and dominant model: OR=1.730, 95%CI=1.259-2.376). When compared with the epilepsy without febrile seizure (EWFS), the subgroup analysis stratified by ethnicity showed that the SNP was significantly associated with EFS in Caucasian (A vs. G: OR=1.505, 95%CI=1.218-1.861; AA vs. GG: OR=2.081, 95%CI=1.358-3.189; recessive model: OR=1.715, 95%CI=1.273-2.310 and dominant model: OR=1.625, 95%CI=1.096-2.410), but not in Indian and Chinese. When applying Bonferroni correction (significance was set at 0.05/20), the Caucasian still has robust association with EFS and epilepsy.
The present meta-analysis suggests that SCN1A IVS5N+5G>A polymorphism is a risk factor of EFS and epilepsy, especially in Caucasian.
有证据表明 SCN1A IVS5N+5G>A 多态性可能与热性惊厥伴癫痫（EFS）易感性相关，但已发表的数据尚无定论。因此，进行了荟萃分析以评估该多态性与总体 EFS 风险的关系。
检索 PubMed 和 Medline 数据库，获取截至 2013 年 3 月关于 SCN1A IVS5N+5G>A 多态性与 EFS 风险关联的研究。采用无遗传模型方法估计比值比（OR）和 95%置信区间（CI）。还进行了各报告的异质性和敏感性以及发表偏倚分析。所有统计分析均使用 STATA 11.0 软件进行。
共有 6 项研究符合纳入标准，包括 2719 例病例和 2317 例对照。我们发现 SCN1A 多态性与 EFS 之间存在显著相关性（A 等位基因与 G 等位基因：OR=1.498，95%CI=1.138-1.972；AA 基因型与 GG 基因型：OR=2.292，95%CI=1.620-3.243；AG 基因型与 GG 基因型：OR=1.414，95%CI=1.010-1.978；隐性模型：OR=1.747，95%CI=1.119-2.728；显性模型：OR=1.730，95%CI=1.259-2.376）。与无热性惊厥的癫痫（EWFS）相比，按种族进行亚组分析显示，该 SNP 与白种人 EFS 显著相关（A 等位基因与 G 等位基因：OR=1.505，95%CI=1.218-1.861；AA 基因型与 GG 基因型：OR=2.081，95%CI=1.358-3.189；隐性模型：OR=1.715，95%CI=1.273-2.310；显性模型：OR=1.625，95%CI=1.096-2.410），但在印度人和中国人中无显著相关性。应用 Bonferroni 校正（显著性设定为 0.05/20）后，白种人仍与 EFS 和癫痫具有显著相关性。
本荟萃分析表明，SCN1A IVS5N+5G>A 多态性是 EFS 和癫痫的危险因素，尤其是在白种人中。
