Al-Eitan Laith N, Al-Dalalah Islam M, Mustafa Mohamed M, Alghamdi Mansour A, Elshammari Afrah K, Khreisat Wael H, Aljamal Hanan A
Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, Jordan.
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.
Pharmgenomics Pers Med. 2019 Jun 10;12:87-95. doi: 10.2147/PGPM.S211490. eCollection 2019.
Epilepsy is one of the most common neurological diseases with unclear etiology where its genetic background and treatment regime still need further exploration.
This study designed to evaluate the pharmacogenomics of and genes, and their association with epilepsy susceptibility among Jordanian population.
A case-control study was conducted on Jordanian cohort of 296 epileptic patients and 299 healthy individuals. Custom platform array was used to genotype the genetic polymorphisms within (rs1801133) and rs717620, rs3740066, rs2273697) genes.
This study revealed a significant genetic association of MTHFR rs1801133 polymorphism with susceptibility to generalized in general and generalized tonic-clonic epilepsy (GTCE)(=0.018 and 0.01, respectively). Regarding gene, rs717620 was of linkage with generalized and GTCE subtypes (=0.045 and 0.048, respectively), while rs717620 was associated with poor responder patients (=0.036) with no linkage of the ABCC2 haplotypes.
MTHFR and ABCC2 polymorphisms showed an association with either epilepsy types in general or subtypes and treatment response among Jordanian population. This study also suggested that these gene polymorphisms have an important role in epilepsy development and drug effectiveness and could be of a great impact in the era of epilepsy diagnosis and treatment.
癫痫是最常见的神经系统疾病之一，其病因尚不明确，遗传背景和治疗方案仍需进一步探索。
本研究旨在评估亚甲基四氢叶酸还原酶（MTHFR）和ATP结合盒转运体C2（ABCC2）基因的药物基因组学，以及它们与约旦人群癫痫易感性的关联。
对约旦队列中的296例癫痫患者和299名健康个体进行了病例对照研究。使用定制平台阵列对MTHFR（rs1801133）以及ABCC2基因内的rs717620、rs3740066、rs2273697基因多态性进行基因分型。
本研究揭示了MTHFR rs1801133多态性与一般全身性癫痫以及全身性强直阵挛性癫痫（GTCE）易感性之间存在显著的遗传关联（分别为P = 0.018和0.01）。关于ABCC2基因，rs717620与全身性癫痫和GTCE亚型存在连锁关系（分别为P = 0.045和0.048），而rs717620与反应较差的患者相关（P = 0.036），ABCC2单倍型无连锁关系。
MTHFR和ABCC2基因多态性与约旦人群的一般癫痫类型或亚型以及治疗反应相关。本研究还表明，这些基因多态性在癫痫发展和药物疗效中具有重要作用，可能对癫痫诊断和治疗时代产生重大影响。
