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

发布时间：2018-02-28 17:18

本文关键词： 癫痫基因多态性淀粉蛋白前β位分解酶性别差异汉族湖南省　出处：《山东医药》2017年30期 　论文类型：期刊论文

【摘要】：目的分析淀粉蛋白前β位分解酶1(BACE1)基因多态性与癫痫易感性的关系。方法选取湖南地区238例癫痫患者为观察组(男129例,女109例)、体检健康者211例为对照组(男104例,女107例),均为汉族,采用PCR-连接酶检测反应(LDR)检测BACE1基因rs535860、rs525493、rs638405位点的多态性,分析其与癫痫发病的关系。结果观察组BACE1基因rs535860基因型AT频率高于对照组(P=0.041),携带至少1个突变等位基因T(AT+TT)的个体癫痫发病风险是野生AA基因型的1.005倍(95%CI:0.382~2.616,P=0.048);两组BACE1基因rs525493、rs638405的基因型和等位基因分布差异无统计学意义(P均0.05)。观察组男性癫痫患者BACE1基因s535860基因型AT频率高于对照组男性人群(P=0.004),携带至少1个突变等位基因T(AT+TT)的男性个体癫痫发病风险是野生AA基因型的2.585倍(95%CI:1.310~5.140,P=0.006)。两组男性人群BACE1基因rs525493、rs638405及女性人群rs535860、rs525493、rs638405的基因型和等位基因分布差异无统计学意义(P均0.05)。结论 BACE1基因rs535860突变杂合子AT基因型与癫痫的发病有关,在男性群体中更为显著。
[Abstract]:Objective to analyze the relationship between the polymorphism of preamyloid 尾 -position 尾 -position 尾 -locus 1pBACE1 gene and susceptibility to epilepsy. Methods 238 patients with epilepsy in Hunan were selected as observation group (129 males, 109 females) and 211 healthy persons as control group (104 males). The polymorphism of BACE1 gene rs535860rs525493rs638405 was detected by PCR-ligase assay in 107 females, all of whom were of Han nationality. Results the AT frequency of rs535860 genotype of BACE1 gene in observation group was higher than that of control group, and the risk of epilepsy in individuals with at least one mutation allele was 1.005 times that of wild AA genotype. There was no significant difference in genotype and allele distribution of rs525493rs638405. The AT frequency of BACE1 gene s535860 genotype in the study group was higher than that in the control group (P 0.004). The risk of epilepsy in sex individuals was 2.585 times as high as that of wild AA genotypes. The genotype and allele distribution of BACE1 gene rs525493rs638405 in male population and female population were not significantly different (P < 0.05). Conclusion there is no significant difference in genotype and allele distribution of BACE1 gene rs535860 mutation heterozygote between the two groups. The AT genotype is associated with epilepsy. It is more significant in male groups.
【作者单位】：连云港市第一人民医院;济宁市第一人民医院;中南大学湘雅二医院;
【基金】：国家自然科学基金资助项目(81602846)
【分类号】：R742.1

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