GRIN2B基因多态性与闽南地区汉族人群癫痫的相关性研究
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篇名: GRIN2B基因多态性与闽南地区汉族人群癫痫的相关性研究
TITLE: Study on the Correlation between GRIN2B Gene Polymorphism and Han Population with Epilepsy in South Fujian
摘要: 目的:探讨N-甲基-D-天冬氨酸(NMDA)受体亚基基因GRIN2B多态性与闽南地区汉族人群癫痫的相关性。方法:采用回顾性研究方法,选取2017年1月-2018年5月在厦门大学附属东南医院进行体检的167例健康人员为对照组,监测过丙戊酸钠血药浓度的163例癫痫患者为癫痫组,采集两组受试者的临床资料及外周血。对受试者GRIN2B基因rs11055514、rs11055515、rs12814951、rs74816802、rs2160517、rs2193149、rs966664、rs1805476、rs1806201、rs1805522、rs3764030、rs1019385等12个位点进行基因分型。采用Haploview4.2软件进行连锁不平衡(LD)分析;采用Pearson相关性分析进行单倍型分析;采用基因型检验(GE-NO)、趋势χ2检验(TREND)、显性基因检验(DOM)和隐性基因检验(REC)统计两组受试者GRIN2B基因12个位点的野生纯合子(AA)、突变杂合子(Aa)及突变纯合子(aa)基因型的分布差异;采用Logistic回归模型分析GRIN2B基因12个位点的致癫痫相关性。结果:两组受试者GRIN2B基因12个位点均符合Hardy-Weinberg平衡定律(P>0.05);由rs11055514、rs11055515、rs12814951、rs74816802、rs2160517、rs2193149、rs966664组成的结构域1(Block1)和由rs3764030、rs1019385组成的Block2各位点之间存在明显LD现象(D’>0.9,r2>1/3);block1中的CGGACAG单倍体与癫痫的发生存在相关性(P<0.05);rs74816802、rs2193149位点在两组间分布的差异具有统计学意义(P<0.05);rs2193149位点突变可能有致癫痫作用(等位基因的加和作用:OR=1.529,L95=1.017,P=0.041)。结论:GRIN2B基因rs2193149位点突变可能是闽南地区汉族人群癫痫致病的相关危险因素之一。
ABSTRACT: OBJECTIVE:To investigate the correlat ion betwe en N-methyl-D-aspartate(NMDA)receptor subunit gene GRIN2B polymorphism and Han population with epilepsy in south Fujian. METHODS :In retrospective study ,167 healthy people who had physical examination in the Affiliated Dongnan Hospital of Xiamen University were selected from Jan. 2017 to May 2018 as control group;163 epileptic patients who were monitored the blood concentration of sodium valproate were selected as epilepsy group. The clinical data and peripheral blood of 2 groups were collected. 12 loci of GRIN2B genotype(rs11055514,rs11055515,rs12814951, rs74816802,rs2160517,rs2193149,rs966664,rs1805476,rs1806201,rs1805522,rs3764030,rs1019385) in subjects were genotyped. Haploview 4.2 software was used to perform linkage disequilibrium (LD)analysis,and Pearson correlation was used to analyze haplotype. Distribution differences of wild homozygote (AA),mutant heterozygote (Aa)and mutant homozygote (aa) genotypes at 12 loci of GRIN2B gene between 2 groups were analyzed statistically by using GENO ,TREND,DOM and REC. Logistic regression model was used to analyze the correlation of epilepsy induction among 12 loci of GRIN2B gene. RESULTS : Totally 12 loci of GRIN2B gene were all in line with Hardy-Weinberg equilibrium in 2 groups(P>0.05). There was an obvious LD phenomenon between the block 1 composed of rs 11055514,rs11055515,rs12814951,rs74816802,rs2160517,rs2193149 and rs966664 and the block 2 composed of rs 3764030 and rs 1019385(D’>0.9,r2>1/3). There was a correlation between CGGACAG monoploid in block 1 and the occurrence of epilepsy (P<0.05). There was statistical significance in the distribution difference of rs74816802 and rs 2193149 between 2 groups(P<0.05). The mutation of rs 2193149 locus may cause epilepsy (addition and effect of alleles :OR=1.529,L95=1.017,P=0.041). CONCLUSIONS :The mutation of GRIN2B gene rs 2193149 locus may be one of the risk factors of epilepsy in Han population from south Fujian.
期刊: 2020年第31卷第03期
作者: 连霞,郑丽群,钱小容,赵佳丽,费燕
AUTHORS: LIAN Xia,ZHENG Liqun,QIAN Xiaorong ,ZHAO Jiali,FEI Yan
关键字: N-甲基-D-天冬氨酸;GRIN2B;基因多态性;癫痫;相关性
KEYWORDS: N-methyl-D-aspartate;GRIN2B;Gene polymorp hism;Epilepsy;Correlation
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