中国汉族人群中BACE1基因多态性与局灶性癫痫发作的关联。
Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.
作者信息
Yang Guangsheng, Wang Haidong, He Xin, Xu Pengfei, Dang Ruili, Feng Qingyan, Jiang Pei
机构信息
Phase I Clinical Research Center, Department of Pharmacy, The First People's Hospital of Lianyungang, The Affiliated Hospital of Kangda College of Nanjing Medical University, Jiangsu, Lianyungang Institute of Clinical Pharmacy and Pharmacology, Jining First People's Hospital, Jining Medical University, Jining Department of Neurology, Jining First People's Hospital, Jining Medical University, Jining Department of Pharmacy, Second Xiangya Hospital, Central South University, Changsha, China.
出版信息
Medicine (Baltimore). 2018 Mar;97(13):e0222. doi: 10.1097/MD.0000000000010222.
BACKGROUND
Beta-secretase 1 (BACE1) is attracting increasing attention for its vital role in pathogenesis of many neuropsychiatric disorders and many studies also have indicated BACE1 as a possible risk factor for seizures, but not any studies have reported association between BACE1 gene polymorphisms and seizures. Therefore, we investigated the possible association between focal seizures and BACE1 gene polymorphisms in the present study.
METHODS
A total of 162 patients and 211 health controls were enrolled in this study and polymorphisms of BACE1 gene were detected using polymerase chain reaction (PCR)-ligase detection reaction method.
RESULTS
The frequency of genotype AT for BACE1 rs535860 (A>T) was significantly higher (24.1%) in patients compared to controls (14.7%) (OR = 1.836, 95% CI = 1.086-3.102, P = .023). Intriguingly, we only found the significant difference of BACE1 SNP genotype and allele frequency among males but not females. However, no statistically significant results were presented for the genotype distributions of rs525493 (G>T) and rs638405(C>G) polymorphisms between patients and controls.
CONCLUSION
Our study demonstrated there may exist an association between BACE1 rs535860 (A>T) polymorphism and focal seizures in Chinese Han males.
背景
β-分泌酶1（BACE1）因其在多种神经精神疾病发病机制中的关键作用而受到越来越多的关注，许多研究也表明BACE1是癫痫发作的一个可能风险因素，但尚无研究报道BACE1基因多态性与癫痫发作之间的关联。因此，在本研究中我们调查了局灶性癫痫发作与BACE1基因多态性之间可能存在的关联。
方法
本研究共纳入162例患者和211名健康对照，采用聚合酶链反应（PCR）-连接酶检测反应法检测BACE1基因的多态性。
结果
与对照组（14.7%）相比，患者中BACE1 rs535860（A>T）基因型AT的频率显著更高（24.1%）（OR = 1.836，95%CI = 1.086 - 3.102，P = 0.023）。有趣的是，我们仅在男性中发现BACE1单核苷酸多态性基因型和等位基因频率存在显著差异，而在女性中未发现。然而，患者与对照组之间rs525493（G>T）和rs638405（C>G）多态性的基因型分布没有呈现出统计学上的显著结果。
结论
我们的研究表明，在中国汉族男性中，BACE1 rs535860（A>T）多态性与局灶性癫痫发作之间可能存在关联。
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