中国当代儿科杂志2018，Vol.20Issue(2)：130-133,4.DOI:10.7499/j.issn.1008-8830.2018.02.010
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
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
作者信息
- 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
- 折叠
摘要
Abstract
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+.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Key words
Voltage gated sodium channel α l-subunit/rs3812718/Single nucleotide polymorphism/Generalized epilepsy with febrile seizures plus/Child引用本文复制引用
马启玲,王波,陈光福,黄建林,李赟,操德智,刘荣添..SCNlA基因rs3812718多态性与全面性癫癎伴热性惊厥附加症的关系[J].中国当代儿科杂志,2018,20(2):130-133,4.
