SCNlA基因rs3812718多态性与全面性癫癎伴热性惊厥附加症的关系  

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

作　　者：马启玲[1] 王波[1] 陈光福[1] 黄建林[2] 李赟[2] 操德智[3] 刘荣添[1] 

机构地区：[1]深圳市第二人民医院儿科,广州深圳518035 [2]深圳市第二人民医院中心实验室,广州深圳518035 [3]深圳市儿童医院神经内科,广州深圳518000

出　　处：《中国当代儿科杂志》2018年第2期130-133,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：目的探讨SCNl A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Mass ARRAY阵列基因分析系统的i PLEX技术检测50例GEFS+患者和50例健康对照的SCNl A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 SCNl A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。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 i PLEX technique in the Mass ARRAY 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＋.

关 键 词：钠通道α-l亚基基因 rs3812718 单核苷酸多态性 全面性癫癎伴热性惊厥附加症 儿童 

分 类 号：R742.1[医药卫生—神经病学与精神病学]