Department of Genetic Medicine and Development, University Hospitals of Geneva, Geneva, Switzerland.
Epilepsia. 2011 Oct;52(10):e135-8. doi: 10.1111/j.1528-1167.2011.03164.x. Epub 2011 Jul 18.
In the present study, we assessed a SCN1A single nucleotide polymorphism (SNP) (rs3812718, IVS5N+5 G>A), first analyzed by Schlachter et al. We genotyped 164 patients with febrile seizures (FS) [of those 62 adults with focal epilepsy (FEFS(+)) and 102 children with pure FS (Pure FS)] and 199 matched controls. Moreover, we also tested a third subgroup of 113 patients with focal epilepsy syndromes without a history of FS (FEFS(-)); they all were Caucasian. Our results, as in the initial study of Schlachter et al., showed an increase in the A-allele and AA-genotype frequencies in patients with FS compared to the controls, but these current differences did not reach statistical significance. Subsequently, we pooled our data with previously published Caucasian groups. No statistically significant difference was found for the FEFS(-), but analyses for FEFS(+) and Pure FS are significantly different compared to controls (p = 8.08 e(-6) and p = 3.56 e(-4), respectively). Furthermore, pooled patients with FS (FS + FEFS(+)) tested against those without FS (Controls + FEFS(-)) showed an even greater statistical significance (p = 4.82 e(-8)). These results reinforced rs3812718 involvement in FS vulnerability.
在本研究中，我们评估了 Schlachter 等人首次分析的 SCN1A 单核苷酸多态性 (SNP) (rs3812718，IVS5N+5 G>A)。我们对 164 例热性惊厥 (FS) 患者 [其中 62 例为局灶性癫痫伴 FS (FEFS(+))，102 例为单纯 FS (Pure FS)] 和 199 名匹配对照进行了基因分型。此外，我们还测试了第三组 113 名无 FS 病史的局灶性癫痫综合征患者 (FEFS(-))；他们均为白种人。我们的结果与 Schlachter 等人的初始研究一致，表明 FS 患者的 A 等位基因和 AA 基因型频率高于对照组，但这些差异目前没有达到统计学意义。随后，我们将数据与之前发表的白种人数据进行了合并。FEFS(-) 没有发现统计学差异，但 FEFS(+) 和 Pure FS 的分析与对照组有显著差异 (p = 8.08 e(-6) 和 p = 3.56 e(-4)，分别)。此外，合并 FS 患者 (FS + FEFS(+)) 与无 FS 患者 (对照 + FEFS(-)) 相比，具有更高的统计学显著性 (p = 4.82 e(-8))。这些结果进一步证实了 rs3812718 与 FS 易感性的关系。
