湖南地区汉族人群Per2基因多态性与睡眠癫痫的相关性研究

Association of Per2C111G gene polymorphisms with sleep-related epilepsy in a Han population of Hunan

摘要:

目的 探讨Per2C111G基因多态性与中国湖南地区汉族人群睡眠癫痫的关系。方法 选取湖南地区汉族癫痫患者300例及健康对照组100例，癫痫患者按好发时间分为觉醒癫痫组、不定期癫痫组、睡眠癫痫组。采用聚合酶链反应（PCR）和基因测序方法检测Per2基因C111G位点的多态性。结果 湖南地区汉族人群中，Per2基因C111G多态位点的基因型频率分别为：CC型87.0%、CG型13.0%、GG型0.0%，等位基因C和G频率分别为93.5%和6.5%。癫痫组和对照组间基因型及等位基因型频率差异无统计学意义（P>0.05）。3个癫痫亚组间基因型及等位基因型频率差异亦无统计学意义（P>0.05）。结论 Per2基因C111G位点多态性可能与湖南地区汉族人群睡眠癫痫无关。

Abstract:

Objective To investigate the association of Per2C111G gene polymorphisms with sleep-related epilepsy in a Han population in Hunan Province. Methods Three hundred Han epileptic patients and 100 healthy controls from Hunan Province were enrolled in the study. According to sleep/wake patterns of seizures, the epileptic patients were divided into 3 groups: sleep epilepsy, wakefulness epilepsy and aperiodic epilepsy. Per2C111G gene polymorphisms were investigated by polymerase chain reaction (PCR) and gene sequencing. Results The frequency of Per2 site C111G genotypes in the Han population in Hunan was 87.0% (CC), 13.0% (CG) and 0.0% (GG). C and G allele gene frequencies were 93.5% and 6.5% respectively. There were no significant differences in both the genotype frequency and allele frequency in Per2C111G between epileptic patients and controls. There were also no significant differences among 3 subgroups of epileptic patients (P>0.05). Conclusions Per2C111G gene polymorphisms may not be associated with sleep-related epilepsy in the Han population of Hunan Province.