汉族儿童热性惊厥与CHRNA4和SYN2基因多态性的关联研究

Association of CHRNA4 and SYN2 gene polymorphism with febrile seizure in the Han Chinese children

目的探讨神经元烟碱乙酰胆碱受体α-4亚单位基因（CHRNA4基因）和突触蛋白Ⅱ基因（SYN2基因）的单核苷酸多态性（SNP）是否可作为北方汉族儿童单纯性热性惊厥（FS）发病的基因标志物。方法用SNaPshotSNP分型技术对北方汉族141例单纯性FS患儿（病例组）和130例健康儿童（健康对照组）进行CHRNA4基因rs1044396、SYN2基因rs3773364位点分型，比较SNP基因型和等位基因频率的差异。结果病例组与健康对照组在rs1044396和rs3773364的基因型和等位基因频率的差异均无统计学意义（P均〉0．05）；对CHRNA4基因rsl0443963种基因型A／A、A／G、G／G的Fs患儿的临床资料比较，显示首次惊厥的年龄差异具有统计学意义（x2=17．206，P〈0．001），而SYN2基因rs3773364的3种基因型C／C、C／T、T／T的FS患儿在性别、首次惊厥年龄和首次惊厥时体温的差异均有统计学意义（x2=21．458、8．717、10．424，P均〈0．05）。结论无论CHRNA4基因rs1044396还是SYN2基因rs3773364的多态性可能均与北方汉族儿童FS的发病无关联，但对患儿首次惊厥的年龄和体温有一定影响。

Objective To explore whether single nucleotide polymorphism（SNP） of nicotinic acetylcholine re- ceptor subunit α-4 （CHRNA4） or synapsin Ⅱ （SYN2） gene can be used as markers of susceptibility to simple febrile seizure（FS） in the Han children of North China. Methods The CHRNA4 gene rs1044396 and SYN2 gene rs3773364 were genotyped by adopting SNaPshot SNP technique in 141 simple FS children and 130 healthy normal controls. The genotype and allele gene frequency in the 2 groups were compared. Results There were no significant differences in the genotype and allele gene in CHRNA4 gene rs1044396 and SYN2 gene rs3773364 between FS children and healthy controls（ all P 〉 0.05 ） ;As compared with the FS＇s clinical data of A/A, A/G, G/G genotypes of the CHRNA4 gene rs1044396 polymorphism and C/C, C/T,T/T genotypes of SYN2 gene rs3773364 polymorphism, there was statistically significant difference in age of first onset in rs1044396 polymorphism（xz = 17. 206 ,P 〈0.001 ） ,and there were statisti- cally significant differences in ages and temperature of first onset and gender（x2 = 21. 458,8. 717,10. 424, all P 〈 0.05） in rs3773364. Conclusions There is no association of CHRNA4 gene rs1044396 polymorphism or SYN2 gene rs3773364 polymorphism with the incidence of simple FS in the Han children of North China, but they may be associated with the age and temperature of first onset.