Ma Qi-Ling, Wang Bo, Chen Guang-Fu, Huang Jian-Lin, Li Yun, Cao De-Zhi, Liu Rong-Tian
Department of Pediatrics, Second People's Hospital of Shenzhen, Shenzhen, Guangdong 518035, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Feb;20(2):130-133. doi: 10.7499/j.issn.1008-8830.2018.02.010.
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+.
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.
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).
SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.
探讨SCN1A基因rs3812718多态性与热性惊厥附加症（GEFS+）全身性癫痫之间的关联，为GEFS+的诊断和治疗提供潜在分子靶点。
采用MassARRAY系统中的iPLEX技术，对50例GEFS+患者和50例健康对照者进行SCN1A基因rs3812718多态性、基因型频率及等位基因频率检测。
在SCN1A基因rs3812718的CC、CT和TT基因型频率方面，GEFS+组与对照组的TT基因型频率存在显著差异（P<0.05）。两组间T等位基因频率也有显著差异（P<0.05）。与携带CC基因型或C等位基因的个体相比，CT基因型、TT基因型或T等位基因的个体发生GEFS+的风险更高（CT/CC：比值比[OR]=4.05，95%置信区间[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）。
SCN1A基因rs3812718多态性是GEFS+的一个危险因素，携带T等位基因的人群发生GEFS的风险可能增加。
