脑源性神经营养因子基因多态性与小儿癫痫的关联研究

Association of brain-derived neurotrophic factor gene polymorphisms with the risk of pediatric epilepsy

目的 探讨脑源性神经营养因子（BDNF）基因多态性与小儿癫痫易感性关系.方法 选择128例小儿癫痫患者和132例健康儿童,采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行BD-NF基因多态性检测,比较不同基因型及等位基因与小儿癫痫风险的关系.结果 270C/T基因型频率分布在患者组和对照组间有显著性（X2 =7.08,P=0.03）.关联强度分析显示小儿癫痫与基因型CC成正关联（OR =3.91,95％CI=1.26～12.14）.而270 C/T等位基因频率以及11757G/C、712G/A、196A/G基因型和等位基因频率分布差异均无差异性（P＞0.05）.四个位点组成的单体型频率在患者组和对照组间比较差异无显著性.结论 BDNF基因270C/T多态性可能与小儿癫痫的遗传易感性相关.

Objective To explore the relationship between brain-derived neurotrophic factor （BDNF）gene polymorphisms and the susceptibility to pediatric epilepsy.Methods BDNF polymorphisms in 128 patients with pediatric epilepsy and 132 healthy controls were analyzed with polymerase chain reaction restriction and fragment length polymorphism （PCR-RFLP）.Results There were significant differences between pediatric epilepsy and controls on genotype frequency of BDNF-270C/T （X2 =7.08,P =0.03 ）.The CC genotype was positively associated with pediatric epilepsy （OR =3.91,95%CI =1.26 ～ 12.14）.No differences in genotype or allele frequencies of the other polymorphisms were found between patients and controls.The frequencies of haplotypes did not show significant differences between patients and controls.Conclusion These findings support the hypothesis that BDNF-270C/T polymorphism may contribute to the risk of developing pediatric epilepsy.