GRIN1基因单核苷酸多态性与粤西地区汉族人群癫痫的相关性研究

Correlation between single nucleotide polymorphism of GRIN1 gene and epilepsy in Han population in western Guangdong

目的探讨粤西地区汉族人群谷氨酸受体离子化NMDA1受体基因(GRIN1)多态性与癫痫易感性及耐药性的相关性。方法纳入癫痫患者200例(病例组)和健康成人200例(对照组),抽取外周静脉血提取全基因组DNA,检测GRIN1基因的rs2301363和rs11146020位点基因多态性,其中病例组进一步分为耐药组(52例)和非耐药组(148例),比较各组间GRIN1基因rs2301363和rs11146020位点基因型及等位基因频率分布的差异。结果病例组与对照组的GRIN1基因rs2301363、rs11146020的基因型及等位基因频率分布均存在显著差异,差异有统计学意义(P<0.05);病例组GRIN1基因rs2301363位点TT和CT基因型频率明显高于对照组,相比CC基因型,TT、CT基因型增加癫痫发病的风险性(OR>1)。病例组GRIN1基因rs11146020位点AG和AA基因型频率明显高于对照组,相比GG基因型,AG和AA基因型增加癫痫发病的风险性(OR>1)。耐药组与非耐药组GRIN1基因2个位点基因型和等位基因频率分布比较,差异无统计学意义(P>0.05)。结论GRIN1基因rs2301363和rs11146020位点多态性与癫痫的易感性有关,而与癫痫耐药性无关。

Objective To investigate the correlation between the polymorphism of glutamate receptor ionized NMDA1 receptor gene(GRIN1)and the susceptibility and drug resistance of epilepsy in Han population in western Guangdong.Methods A total of 200 with epilepsy patients(case group)and 200 healthy adults(control group)were included.Peripheral venous blood was extracted to extract whole genome DNA,and the gene polymorphisms of rs2301363 and rs11146020 loci of GRIN1 gene were detected.The case group was further divided into the drug resistant group(52 cases)and the non-drug resistant group(148 cases).The differences in genotype and allele frequency distribution of rs2301363 and rs11146020 loci of GRIN1 gene were compared among the groups.Results There were significant differences in the genotype and allele frequency distribution of GRIN1 gene rs2301363 and rs11146020 between the case group and the control group(P<0.05).The frequency of TT and CT genotypes of GRIN1 gene rs2301363 locus in the case group was significantly higher than that in the control group.Compared with CC genotype,TT and CT genotypes increased the risk of epilepsy(OR>1).The frequencies of AG and AA genotypes at rs11146020 locus of GRIN1 gene in the case group were significantly higher than those in the control group.Compared with GG genotype,AG and AA genotypes increased the the risk of epilepsy(OR>1).There were no significant difference in the distribution of genotypes and allele frequencies of GRIN1 gene between the drug resistant and the non-drug resistant groups(P>0.05).Conclusion The polymorphisms of rs2301363 and rs11146020 in GRIN1 gene are related to the susceptibility to epilepsy,but not to the drug resistance of epilepsy.