SCN1A基因多态性分析与热性惊厥发病的关联性分析

doi:10.3969/j.issn.1006-6233.2025.01.011

摘要
图/表
参考文献
相关文章 (15)

全文: PDF (1194 KB) HTML (1 KB)
输出: BibTeX | EndNote (RIS)

摘要 目的: 分析钠离子通道α1亚单位基因(SCN1A)基因多态性,探究其与热性惊厥发病(FS)的关联性。方法: 回顾性分析我院121例FS症患者资料为FS组,另纳入同期来院体检的150例健康患者资料为健康组,比较两组SCN1A基因rs3812718、rs4667869和rs10497275位点基因多态性、基因频率、等位基因频率及不同基因型、基因频率分布与临床特征的关系。结果: SCN1A基因型的rs3812718、rs4667869、rs10497275位点的基因型分布均符合Hardy-Weinberg遗传平衡定律(P>0.05),具有群体代表性;FS组SCN1A基因rs3812718位点CC、CT、TT基因型频率、C/T等位基因频率,rs4667869位点GG、GC、CC基因型频率、G/C等位基因频率比较,差异均有统计学意义(P<0.05);rs10497275位点GG、GA、AA基因型频率、G/A等位基因频率比较,差异无统计学意义(P>0.05);SCN1A基因rs3812718位点TT基因型发病年龄小于3岁、伴抽搐、阵挛者占比显著高于CC+CT基因型(P<0.05);rs4667869位点GG基因型发病年龄小于3岁、伴抽搐、阵挛者占比高于CC+GC基因型(P<0.05);惊厥伴发热、意识丧失、头颅影像学异常症状基因型分布差异无统计学意义(P>0.05)。结论: SCN1A基因型的rs3812718、rs4667869位点与FS发病急临床特征相关,其中rs3812718位点T等位基因、rs4667869位点的G等位基因为易感基因。

	服务

	把本文推荐给朋友
	加入我的书架
	加入引用管理器
	E-mail Alert
	RSS
	作者相关文章

关键词 ：钠离子通道α1亚单位基因, FS, 基因位点, 基因多态性

Abstract：Objective: To analyze the association between gene polymorphism of sodium voltage-gated channel alpha1 subunit (SCN1A) and onset of febrile seizures (FS). Methods: A retrospective analysis was conducted on 121 patients with FS (FS group) and 150 healthy subjects (healthy group) visited the hospital for physical examination during the same period. The gene polymorphisms, genotypes frequencies and alleles frequencies at rs3812718, rs4667869 and rs10497275 loci of SCN1A gene and the association between different genotypes, gene frequency distribution of SCN1A gene polymorphism with clinical characteristics were compared. Results: The genotype sat rs3812718, rs4667869 and rs10497275 loci of SCN1A gene were consistent with Hardy-Weinberg genetic equilibrium law (P>0.05), indicating population representation. There were statistically significant differences in the frequencies of CC, CT and TT genotypes and C/T allele at rs3812718 locus and frequencies of GG, GC and CC genotypes and G/C allele at rs4667869 locus of SCN1A gene (P<0.05). There were no statistical differences in the frequencies of GG, GA and AA genotypes and G/A allele at rs10497275 locus (P>0.05). The proportions of patients with onset age younger than 3 years old, convulsions, clonuses in patients carrying TT genotype at rs3812718 locus of SCN1A gene were significantly higher than those in patients carrying CC+CT genotype (P<0.05). The proportions of patients with onset age younger than 3 years old and, convulsions, clonuses in patients carrying GG genotype at rs4667869 locus were significantly higher than those in patients carrying CC+GC genotype (P<0.05). There were no significant differences in the proportions of convulsion with fever, loss of consciousness and abnormal head imaging symptoms among different genotypes (P>0.05). Conclusion: rs3812718 and rs4667869 loci of SCN1A gene are associated with the clinical characteristics of FS onset, and the T allele at rs3812718 locus and the G allele at rs4667869 locus are susceptible genes.

Key words： Sodium voltage-gated channel alpha1 subunit Febrile seizures (FS) Gene locus Gene polymorphism

基金资助:云南省科技计划项目,(编号:202105AD160031)

通讯作者: 何大可

引用本文:

彭丽琨, 何大可, 张翠香, 杨巨品, 严家威, 董宇莹, 江泳, 黄张杨, 段丽梅, 刘冬萍. SCN1A基因多态性分析与热性惊厥发病的关联性分析[J]. 河北医学, 2025, 31(1): 62-66.
PENG Likun, et al. Association between SCN1A Gene Polymorphism and Onset of Febrile Seizures. HeBei Med, 2025, 31(1): 62-66.

链接本文:

http://www.hbyxzzs.cn/CN/10.3969/j.issn.1006-6233.2025.01.011 或 http://www.hbyxzzs.cn/CN/Y2025/V31/I1/62

[1] Kumar M,Swarnim S,Khanam S.Zinc supplementation for prevention of febrile seizures recurrences in children:a systematic review and meta-analysis[J].Indian Pediatr,2021,58(9):857-860.
[2] Skotte L,Fadista J,Bybjerg-Grauholm J,et al.Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes[J].Brain,2022,145(2):555-568.
[3] Peycheva V,Ivanova N,Kamenarova K,et al.SCN1A mutation spectrum in a cohort of bulgarian patients with GEFS+ phenotype[J].Turk Pediatr,2020,62(5):711-725.
[4] Baum L,Haerian BS,Ng HK,et al.Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A,SCN2A,SCN3A,SCN1B,and SCN2B and epilepsy[J].Hum Genet,2014,133(5):651-659.
[5] Hotz AL,Jamali A,Rieser NN,et al.Loss of glutamate transporter eaat2a leads to aberrant neuronal excitability,recurrent epileptic seizures,and basal hypoactivity[J].Glia,2022,70(1):196-214.
[6] Leung JS.Febrile Seizures:An updated narrative review for pediatric ambulatory care providers[J].Curr Pediatr Rev,2024,20(1):43-58.
[7] Colasante G,Lignani G,Brusco S,et al.dCas9-based scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in dravet syndrome mice[J].Mol Ther,2020,28(1):235-253.
[8] 孙绍霞,李晓玲,宋纪国,等.一个遗传性癫痫伴热性惊厥附加症家系的临床表型及SCN1A基因变异分析[J].中华医学遗传学杂志,2021,38(8):745-748.
[9] 王波,马启玲,陈光福,等.SCN1A基因多态性与全面性癫痫伴热性惊厥附加症临床表型的关系[J].中国临床研究,2018,31(5):581-584.
[10] 段艳廷,陈自谦,何毛伟,等.颞叶癫痫SCN1A基因rs3812718位点多态性与静息态自发神经活动关系的功能MRI研究[J].中华放射学杂志,2022,56(5):530-535.
[11] 马启玲,王波,陈光福等.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.
[12] 黄建敏,钱哲,陈海燕,等.SCN1A基因多态性与卡马西平治疗壮族癫痫患者疗效的关系[J].实用医学杂志,2019,35(4):606-610.