现代医药卫生2024，Vol.40Issue(14)：2353-2356,4.DOI:10.3969/j.issn.1009-5519.2024.14.004
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
摘要
Abstract
Objective To investigate the correlation between the polymorphism of glutamate receptor i-onized NMDA1 receptor gene(GRIN1)and the susceptibility and drug resistance of epilepsy in Han popula-tion in western Guangdong.Methods A total of 200 with epilepsy patients(case group)and 200 healthy a-dults(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 signifi-cantly 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.关键词
GRIN1基因/单核苷酸多态性/癫痫/易感性/耐药性Key words
GRIN1 gene/Single nucleotide polymorphism/Epilepsy/Susceptibility/Drug re-sistance分类
医药卫生引用本文复制引用
梁维,廖志敏..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[J].现代医药卫生,2024,40(14):2353-2356,4.基金项目
广东省湛江市科技计划项目(2020B01129). （2020B01129）
