局灶性癫痫患儿 NRG-1 基因 rs35753505 位点 多态性及血清 NRG-1 水平变化的意义.

Objective To investigate the significance of neuregulin 1 (NRG-1) gene rs35753505 polymorphism and changes of serum NRG-1 level in children with focal epilepsy. Methods Totally 101 children with focal epilepsy (epilepsy group) and 101 healthy children (control group) were selected. According to the curative effect, the children with epilepsy were divided into the effective group (n=71) and ineffective group (n=30). The polymorphism of NRG-1 gene rs35753505 was detected by polymerase chain reaction and ligase detection reaction, and NRG-1 was detected by enzymelinked immunosorbent assay. Multivariate Logistic regression model was used to analyze the effect of serum NRG-1 level on the efficacy of ASM. Results The CC genotype and allele C gene frequencies in the epilepsy group were higher than those in the control group (both P<0. 05), and the serum NRG-1 level was lower than that in the control group (P<0. 05). The risk of focal epilepsy was higher in CC genotype than in TT (OR=1. 658, 95 % CI : 1. 506-1. 957) and CT (OR= 1. 404, 95 %CI : 1. 205-1. 733) genotypes (both P<0. 05); the risk of focal epilepsy was higher in C allele than in T allele (OR=1. 872, 95 %CI : 1. 643-2. 892, P<0. 05). The CC genotype and allele C gene frequencies in the ineffective group were higher than those in the effective group (both P<0. 05), and the serum NRG-1 level was lower than that in the effective group (P<0. 05). The risk of invalid ASM was higher in CC genotype than in TT (OR=1. 358, 95%CI: 1. 1061. 537) and CT (OR=1. 274, 95%CI: 1. 075–1. 465) genotypes (both P<0. 05), and the risk of invalid ASM was higher in C allele than in T allele (OR=1. 572, 95%CI: 1. 465–1. 432, P<0. 05). The serum NRG-1 level in focal epilepsy children with CC genotype was lower than that of children with CT and TT genotypes (all P<0. 05), and there was no significant difference in serum NRG-1 level between CT and TT genotypes in children with focal epilepsy (P>0. 05). The proportions of abnormal EEG and family history of epilepsy in the ineffective group were higher than those in the effective group (both P<0. 05). Abnormal EEG and CC genotype were risk factors for the efficacy of ASM (P<0. 05), and high serum NRG-1 level was a protective factor (P<0. 05). Conclusion NRG-1 gene rs35753505 polymorphism and serum NRG-1 level affect the susceptibility of focal epilepsy and the efficacy of ASM. [ABSTRACT FROM AUTHOR]