GABRA1

  • 文章类型: Systematic Review
    据报道,γ-氨基丁酸A型受体(GABAAR)与癫痫的发病机理和慢性癫痫的复发有关。GABRA1和GABRA6基因多态性可能导致癫痫和多药耐药的高风险。但结果相互矛盾。我们旨在使用荟萃分析评估GABRA1rs2279020和GABRA6rs3219151与癫痫风险的关联。Pubmed的数据库,奥维德,WebofScience,搜索了中国国家知识基础设施。使用固定或随机效应模型计算汇总比值比(OR)和95%置信区间(CI)以评估多态性与癫痫风险之间的关联。进行试验序贯分析(TSA)以评估荟萃分析的结果。在亚洲和阿拉伯人群中,GABRA1rs2279020和GABRA6rs3219151与癫痫风险之间没有显着关联。当比较GABRA1rs2279020和GABRA6rs3219151多态性与抗癫痫药物反应性时,也观察到阴性结果。试验序贯分析证实了荟萃分析的结果。这项荟萃分析表明,在亚洲和阿拉伯人群中,GABRA1rs2279020和GABRA6rs3219151不是癫痫病因和抗癫痫药物反应性的危险因素。
    The γ-aminobutyric acid type A receptors (GABAAR) have been reported to contribute to the pathogenesis of epilepsy and the recurrence of chronic seizures. Genetic polymorphisms in GABRA1 and GABRA6 may confer a high risk of epilepsy and multiple drug resistance, but with conflicting results. We aimed to assess the association of GABRA1 rs2279020 and GABRA6 rs3219151 with epilepsy risk using a meta-analysis. The databases of Pubmed, Ovid, Web of Science, and China National Knowledge Infrastructure were searched. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were computed to evaluate the association between the polymorphisms and epilepsy risk using a fixed- or random-effect model. Trial sequential analysis (TSA) was performed to assess the results of the meta-analysis. No significant association between the GABRA1 rs2279020 and GABRA6 rs3219151 and the risk of epilepsy was found in the Asian and Arabic populations. The negative results were also observed when comparing the GABRA1 rs2279020 and GABRA6 rs3219151 polymorphism to antiepileptic drug responsiveness. The trial sequential analysis confirmed the results of the meta-analysis. This meta-analysis suggests that GABRA1 rs2279020 and GABRA6 rs3219151 are not risk factors for the etiology of epilepsy and antiepileptic drug responsiveness in the Asian and Arabic populations.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    癫痫是最常见的神经系统疾病之一,在发展状态下发病率较高。这是一种多因素疾病,其中遗传多样性以及其他因素起着重要作用。这项研究的目的是评估不同危险因素的参与,包括GABRA1(rs2279020)和GABRG2(rs211037)基因中存在的单核苷酸多态性(SNP)与目标人群中癫痫的易感性。采集180例受试者的血液样本,并通过四引物扩增难治性突变系统-聚合酶链反应技术进行基因分型。通过包括χ2(卡方)检验和比值比在内的不同统计工具对获得的人口统计学和基因型数据进行分析。在本研究的大量病例中,观察到父母的血缘关系和癫痫发作的家族史以及在工业区的居住。但是,rs2279020(χ2=0.900,P=0.638)和rs211037(χ2=0.045,P=0.832)与癫痫易感性无相关性。然而,与男性病例相比,在女性病例中观察到更多rs2279020的GG基因型。此外,观察到TG单倍型与发生癫痫的风险增加有关(χ2=9.097;OR=2.586;P=0.002)。遗传模型也显示靶向SNP与癫痫易感性没有相关性。本研究的结果表明,rs211037和rs2279020均与目标人群的癫痫易感性增加相关。
    Epilepsy is one of the most common neurological disorders with the incidence rate higher in developing states. It is a multifactorial ailment in which genetic diversity along with other factors plays an important role. The objective of this study was to assess the involvement of different risk factors including single nucleotide polymorphisms (SNPs) present in GABRA1 (rs2279020) and GABRG2 (rs211037) genes with the susceptibility to epilepsy in the targeted population. Blood samples of 180 subjects were taken and genotyped through tetra-primer amplification refractory mutation system-polymerase chain reaction technique. The obtained demographic and genotypic data were analyzed through different statistical tools including χ2 (chi-square) test and odds ratio. Parental consanguinity and family history of seizures were observed in a considerable number of cases of this study along with residency in industrial areas. But, no association of rs2279020 (χ2 = 0.900, P = 0.638) and rs211037 (χ2 = 0.045, P = 0.832) was observed with predisposition to epilepsy. However, GG genotype of rs2279020 was observed more in female cases as compared to male cases. Furthermore, TG haplotype was observed to be associated with the increased risk of developing epilepsy (χ2 = 9.097; OR = 2.586; P = 0.002). Genetic models also showed no correlation of the targeted SNPs with the susceptibility to epilepsy. The outcomes of the present study suggested that neither rs211037 nor rs2279020 were associated with increased susceptibility to epilepsy in the targeted population.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号