钱哲+陈海燕+黄清+黄灵+刘国军+唐雄林+黄建敏

【摘要】目的研究基因SCN1A rs3812718多态性与桂西地区难治性癫痫（RE）的关系。

方法收集诊断明确并且规范化治疗的桂西地区癫痫患者109例，根据RE的诊断标准将其分为RE组（38例）和非RE组（71例）。利用基质辅助激光解吸电离飞行时间质谱（MALDITOFMS）技术检测患者外周血基因SCN1A rs3812718 的多态性，评估两组患者不同基因型和等位基因与难治性癫痫患病风险的关联性。

结果RE组AA、GA、GG基因型分别占5.3%、52.6%、42.1%，非RE组分别占9.9%、38.0%、52.1%，两组比较差异无统计学意义（P>0.05）。RE组患者rs3812718等位基因A、G频率分别占31.6%、68.4%，非RE组A、G频率分别占28.9%、71.1%，两组比较差异无统计学意义（P>0.05），两组患者不同基因模型比较差异无统计学意义（P>0.05）。

结论未发现基因SCN1A rs3812718 多态性与桂西地区RE易感性有关。

【关键词】SCN1A基因；基因多态性；难治性癫痫；桂西地区

中图分类号：R742.1文献标识码：ADOI：10.3969/j.issn.10031383.2017.02.001

【Abstract】ObjectiveTo study correlation between polymorphism of gene SCN1A rs3812718 and human refractory epilepsy（RE） in western Guangxi.

Methods109 cases of epilepsy with clear diagnosis and standardized treatment in western Guangxi were collected and divided into RE group （38 cases） and non RE group （71 cases） according to the diagnostic criteria of RE.MatrixAssisted Laser Desorption/Ionization Time of Flight Mass Spectrometry（MALDITOFMS） was used to detect polymorphism of gene SCN1A rs3812718 in peripheral blood，and correlation between different genotypes and alleles with the risk of RE in the two groups was evaluated.

ResultsAA，GA and GG genotypes in the RE group accounted for 5.3%，52.6%，and 42.1%，respectively，and that of the non RE group accounted for 9.9%，38.0% and 52.1%，respectively，difference was not statistically significant（P>0.05）.Allele A and G frequency of rs3812718 in the RE group accounted for 31.6% and 68.4% respectively，and that of the non RE group accounted for 28.9% and 71.1% respectively，difference was not statistically significant（P>0.05）.Difference of different gene models between the two groups was not statistically significant（P>0.05）.

ConclusionNo relation between polymorphism of gene SCN1A rs3812718 and susceptibility to RE in western Guangxi is found.

【Key words】gene SCN1A；genetic polymorphism；RE；western Guangxi

癲痫是一种以神经元异常放电导致中枢神经系统功能失常的疾病，近年来尽管在药物治疗方面取得巨大进步，开发很多抗癫痫新药，但是仍有30%左右癫痫患者对抗癫痫药物（antiepileptic drugs， AEDs）不敏感甚至耐受，发展为难治性癫痫（refractory epilepsy，RE），原因在于RE的耐药机制不完全清楚[1]。研究表明癫痫发病机制是编码电压门控性Na+通道的相关基因突变所致，其中与编码α亚基的SCN1A 基因突变的关系非常密切，如Dravet综合征 （DS）、全身泛化性癫痫伴发热综合征（GEFS+）等发病机制与SCN1A 基因突变密切相关。基因SCN1A rs3812718突变可直接导致不同类型、轻重程度不同的癫痫[2～3]，可能导致控制癫痫所需的药物剂量增加[4]，甚至造成对某些抗癫痫药物抵抗[5]，但也有学者研究发现该位点突变与癫痫耐药无关[6]。……