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Updated: Feb 12, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population
Guangsheng Yang1, Haidong Wang, Xin He
1Phase 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.
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.
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Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Single Nucleotide Polymorphisms-SNPs