Wang Haidong, Xu Pengfei, Liao Dehua, Dang Ruili, He Xin, Guo Yujin, Jiang Pei
Department of Pharmacy, The First People's Hospital of Lianyungang, The Affiliated Hospital of Kangda College of Nanjing Medical University, Jiangsu, Lianyungang 222002, China.
Institute of Clinical Pharmacy & Pharmacology, Jining First People's Hospital, Jining Medical University, Jining 272000, China.
Biomed Res Int. 2017;2017:9547902. doi: 10.1155/2017/9547902. Epub 2017 Apr 19.
. Clinical and experimental evidence has clarified that the inflammatory processes within the brain play a pivotal role in the pathophysiology of seizures and epilepsy. Inflammasomes and P2X7 purinergic receptor (P2X7R) are important mediators during the inflammatory process. Therefore, we investigated the possible association between partial seizures and inflammasomes NLPR1, NLRP3, and P2X7R gene polymorphisms in the present study. . A total of 163 patients and 201 health controls were enrolled in this study and polymorphisms of NLPR1, NLRP3, and P2X7R genes were detected using polymerase chain reaction- (PCR-) ligase detection reaction method. . The frequency of rs878329 (G>C) genotype with C (CG + CC) was significantly lower among patients with partial seizures relative to controls (OR = 2.033, 95% CI = 1.290-3.204, = 0.002 for GC + CC versus GG). Intriguingly, we found that the significant difference of rs878329 (G>C) genotype and allele frequency only existed among males (OR = 2.542, 95% CI = 1.344-4.810, = 0.004 for GC + CC versus GG), while there was no statistically significant difference among females. However, no significant results were presented for the genotype distributions of rs8079034, rs4612666, rs10754558, rs2027432, rs3751143, and rs208294 polymorphisms between patients and controls. . Our study demonstrated the potentially significant role of NLRP1 rs878329 (G>C) in developing susceptibility to the partial seizures in a Chinese Han population.
临床和实验证据表明，脑内的炎症过程在癫痫发作和癫痫的病理生理学中起关键作用。炎性小体和P2X7嘌呤能受体（P2X7R）是炎症过程中的重要介质。因此，在本研究中，我们调查了部分性癫痫发作与炎性小体NLPR1、NLRP3和P2X7R基因多态性之间的可能关联。本研究共纳入163例患者和201名健康对照，采用聚合酶链反应 - （PCR - ）连接酶检测反应方法检测NLPR1、NLRP3和P2X7R基因的多态性。与对照组相比，部分性癫痫发作患者中rs878329（G>C）基因型C（CG + CC）的频率显著降低（GC + CC与GG相比，OR = 2.033，95% CI = 1.290 - 3.204，P = 0.002）。有趣的是，我们发现rs878329（G>C）基因型和等位基因频率的显著差异仅存在于男性中（GC + CC与GG相比，OR = 2.542，95% CI = 1.344 - 4.810，P = 0.004），而女性之间无统计学显著差异。然而，患者与对照组之间rs8079034、rs4612666、rs10754558、rs2027432、rs3751143和rs208294多态性的基因型分布未呈现显著结果。我们的研究证明了NLRP1 rs878329（G>C）在中国汉族人群中对部分性癫痫发作易感性发展的潜在重要作用。
