山东医药2017，Vol.57Issue(30)：26-29,4.DOI:10.3969/j.issn.1002-266X.2017.30.007
淀粉蛋白前β位分解酶1基因多态性与癫痫易感性的关系
Relationship between BACE1 gene polymorphisms and epilepsy susceptibility
摘要
Abstract
Objective To analyze the relationship between the β-secretase 1 (BACE1) gene polymorphisms and epilepsy susceptibility.Methods BACE1 gene rs535860, rs525493 and rs638405 polymorphisms were detected by the PCR-ligase detection reaction (LDR) in 238 children with epilepsy (observation group, 129 males and 109 females) and 211 healthy controls (control group, 104 males and 107 females) of Han population in Hunan Province, and their correlations with epilepsy susceptibility was analyzed.Results The frequency of genotype AT for BACE1 rs535860 (A>T) was significantly higher in the observation group than in the control group (P=0.041).The incidence rate of patients that carried the T allele (AT+TT) was 1.005 times higher than that carried AA wild genotype (95% CI 0.382-2.616, P=0.048).However, no statistically significant differences were found in the genotype and allele distributions of rs525493 (G>T) and rs638405 (C>G) between the two groups (all P>0.05).The genotype AT frequency of BACE1 gene s535860 in male patients with epilepsy of the observation group was higher than that in the control group (P=0.004).The risk of epilepsy in male individuals carrying at least one mutant allele T (AT+TT) was 2.585 times higher than that of males with wild AA genotype (95% CI: 1.310-5.140, P=0.006).There was no significant difference in genotype and allele distribution of BACE1 gene rs525493, rs638405 of males as well as BACE1 gene rs535860, rs525493 and rs638405 of females between these two groups (all P>0.05).Conclusion The mutant heterozygote AT genotype of BACE1 gene rs535860 is associated with the onset of epilepsy and is more significant in males.关键词
癫痫/基因多态性/淀粉蛋白前β位分解酶1/性别差异/汉族/湖南省Key words
epilepsy/gene polymorphism/β-secretase 1/gender difference/Han nationality/Hunan area分类
医药卫生引用本文复制引用
王海东,江沛,何昕,宋兴发..淀粉蛋白前β位分解酶1基因多态性与癫痫易感性的关系[J].山东医药,2017,57(30):26-29,4.基金项目
国家自然科学基金资助项目(81602846). （81602846）
