SCNlA基因rs3812718多态性与全面性癫癎伴热性惊厥附加症的关系

目的 探讨SCNlA基因rs3812718基因多态性与全面性癫癎伴热性惊厥附加症（GEFS+）的相关性，以期为GEFS+的诊治提供潜在的分子靶点。方法 采用MassARRAY阵列基因分析系统的iPLEX技术检测50例GEFS+患者和50例健康对照的SCNlA基因rs3812718位点多态性、基因型频率、等位基因频率。结果 将SCN1A基因rs3812718位点的CC、CT、TT基因型频率在GEFS+组和对照组进行比较，TT基因型频率的差异有统计学意义；等位基因T的频率在GEFS+组和对照组间的差异有统计学意义（P < 0.05）。在三种遗传模式下（CT/CC、TT/CC、T/C），GEFS+的发病风险分别是对照组的4.05倍（95% CI：1.04~15.69）、30.60倍（95% CI：6.46~144.85）和4.64倍（95% CI：2.54~8.48）。结论 SCNlA基因rs3812718基因多态性是GEFS+的危险因素，携带T等位基因人群的GEFS+发病风险可能增加。

Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus

Objective To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.Methods The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.Results As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P < 0.05). There was also a significant difference in the frequency of T allele between the two groups (P < 0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype, TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC:OR=4.05, 95% CI:1.04-15.69; TT/CC:OR=30.60, 95% CI:6.46-144.85; T/C:OR=4.64, 95% CI:2.54-8.48).Conclusions SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS+.