Relationship between BACE1 gene polymorphisms and epilepsy susceptibility

WANG Haidong; JIANG Pei; HE Xin; SONG Xingfa

doi:10.3969/j.issn.1002-266X.2017.30.007

Abstract：Objective To analyze the relationship between the β-secretase 1 (BACE1) gene polymorphisms and epilepsy susceptibility.Methods BACE1 gene rs535860, rs525493 and rs638405 polymorphisms were detected by the PCR-ligase detection reaction (LDR) in 238 children with epilepsy (observation group, 129 males and 109 females) and 211 healthy controls (control group, 104 males and 107 females) of Han population in Hunan Province, and their correlations with epilepsy susceptibility was analyzed.Results The frequency of genotype AT for BACE1 rs535860 (A>T) was significantly higher in the observation group than in the control group (P=0.041).The incidence rate of patients that carried the T allele (AT+TT) was 1.005 times higher than that carried AA wild genotype (95% CI 0.382-2.616, P=0.048).However, no statistically significant differences were found in the genotype and allele distributions of rs525493 (G>T) and rs638405 (C>G) between the two groups (all P>0.05).The genotype AT frequency of BACE1 gene s535860 in male patients with epilepsy of the observation group was higher than that in the control group (P=0.004).The risk of epilepsy in male individuals carrying at least one mutant allele T (AT+TT) was 2.585 times higher than that of males with wild AA genotype (95% CI: 1.310-5.140, P=0.006).There was no significant difference in genotype and allele distribution of BACE1 gene rs525493, rs638405 of males as well as BACE1 gene rs535860, rs525493 and rs638405 of females between these two groups (all P>0.05).Conclusion The mutant heterozygote AT genotype of BACE1 gene rs535860 is associated with the onset of epilepsy and is more significant in males.