CAMSAP1L1基因多态性与我国中部地区人群癫痫的相关性分析

目的 探讨我国中部地区汉族人群中CAMSAP1L1基因两个SNP位点rs6660197和rs2292096的多态性与癫痫遗传易感性的关系.方法 采取病例对照研究方法,分别选取157例癫痫患者,其中包括122例良性癫痫伴中央颞区棘波（BECT）和35例难治性癫痫（RE）患儿;选取160例正常体检儿童作为研究对象.利用PCR-RFLP的方法测定两个SNP位点多态性分布,并进行统计分析.结果 在所有患者中SNP位点（rs6660197）的基因型（CC,CT,TT）频率和等位基因C频率与对照组比较差异均有统计学意义（P＜0.05）;SNP位点（rs2292096）的基因型（AA,AG,GG）频率两组比较差异无统计意义（P＞0.05）.SNP位点（rs6660197）与我国中部地区汉族人群BECT的易感性相关（P=0.040）,CC为风险基因型,C等位基因为风险因子,与对照组比较OR =1.584,95％ CI：1.046～2.398,P=0.029.RE患者SNP位点（rs2292096）的基因型与对照组比较差异有统计学意义（P=0.028）,A等位基因为风险因子（OR=2.431,95％CI：1.265～4.134,P=0.010）,等位基因频率明显高于对照组（P=0.010）.结论 CAMSAP1L1基因SNP位点（rs6660197）与BECT的易感性相关,而SNP位点（rs2292096）与RE的易感性相关.

Association between gene polymorphism of CAMSAP1L1 gene and epilepsy in people from the central region of China

Objective To investigate the association between two singlenucleotide polymorphisms （rs2292096 and rs6660197） in CAMSAP1L1 gene and epilepsy （EP） in Han Chinese children from the central region of China.Methods A case-control study was performed in this research.Totals of 157 EP children were recruited,of which 122 had benign childhood epilepsy with central-temporal spikes （BECT） and other 35 had refractory epilepsy（RE） ;and 160 children served as controls.The genotypes of two SNPs in CAMSAP1L1 gene were detected using PCR-RFLP.Results In this study,there was no association between polymorphism （SNP rs2292096） and EP （P =0.302） ; but another SNP（rs6660197） was associated with EP （P ＜ 0.05） compared with control.In BECT group,the frequency of C allele （rs6660197） was higher than that in control group （OR =1.584,95％ CI：1.046-2.398,P =0.029）.In RE group the frequency of A allele （rs2292096） was higher than that in control group （OR =2.031,95％ CI：1.265-4.134,P =0.01）.Conclusions The SNP （rs6660197） was associated with BECT,and the SNP （rs2292096） was associated with RE in Han Chinese from the central region of China.