Abstract：
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.
摘要：
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。
