Lv Jin, Qu Chunsheng, Huang Zhenqiang, Zhu Yingbiao, Wang Wei, Lan Likang
Department of Neurology of Lishui People's Hospital, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, Zhejiang 323000, China.
Clinical Laboratory of Lishui People's Hospital, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, Zhejiang 323000, China.
Int J Genomics. 2020 Mar 10;2020:4375293. doi: 10.1155/2020/4375293. eCollection 2020.
This study is aimed at investigating the association between orthodenticle homeobox 1 () gene polymorphisms and idiopathic epilepsy in a cohort of Han Chinese patients. We carried out a case-control study on 147 patients with idiopathic epilepsy and 150 healthy controls. Genomic DNA was isolated from 1 ml of ethylene diamine tetraacetic acid (EDTA)-treated blood. The coding sequence was divided into three parts and amplified using PCR, and the products were genotyped using the Sanger sequencing method. All coding sequences were conserved except for rs17850223 located on the fifth exon. The frequency of the CC, CG, and GG genotypes showed no statistical differences between the idiopathic epileptic patients and the controls. The rs17850223 G allele distribution was also similar between the idiopathic epileptic patients and the controls. Interestingly, the frequency of the GG genotype was significantly higher in the patients with generalized seizures compared with that of the controls (12.2% vs. 2%, = 0.012), and a greater distribution of the rs17850223 G allele was also seen in the patients with generalized seizures compared with controls (18.3% vs. 10%, = 0.049). rs17850223 might play a critical role in Chinese idiopathic epileptic patients with generalized seizure activity.
本研究旨在调查汉族患者队列中orthodenticle同源盒1（）基因多态性与特发性癫痫之间的关联。我们对147例特发性癫痫患者和150例健康对照进行了病例对照研究。从1毫升乙二胺四乙酸（EDTA）处理的血液中分离基因组DNA。将编码序列分为三个部分，使用聚合酶链反应（PCR）进行扩增，并使用桑格测序法对产物进行基因分型。除位于第五外显子上的rs17850223外，所有编码序列均保守。CC、CG和GG基因型的频率在特发性癫痫患者和对照组之间无统计学差异。rs17850223 G等位基因分布在特发性癫痫患者和对照组之间也相似。有趣的是，与对照组相比，全身性发作患者中GG基因型的频率显著更高（12.2%对2%，=0.012），并且与对照组相比，全身性发作患者中rs17850223 G等位基因的分布也更多（18.3%对10%，=0.049）。rs17850223可能在具有全身性发作活动的中国特发性癫痫患者中起关键作用。
