磷酸二酯酶4D基因多态性与缺血性脑血管病的关系

目的 探讨中国汉族人群磷酸二酯酶4D (PDE4D) 基因多态性与缺血性脑血管病(ICVD)的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测116例ICVD患者和110名正常对照者PDE4D基因SNP45、SNP83和rs918592位点的多态性及其与糖代谢指标的关系.结果 PDE4D基因rs918592的A等位基因频率ICVD组(58.6%)、腔隙性脑梗死亚组(63.8%)较正常对照组(48.6%)明显增高(均P<0.05);rs918592、SNP83基因型及等位基因频率各组间差异无统计学意义(均P>0.05);SNP45位点未见多态性.糖代谢指标在不同的SNP83、rs918592 基因型间差异无统计学意义(均P>0.05).结论 中国汉族人群PDE4D基因rs918592位点上A等位基因可能是ICVD的危险因素之一; PDE4D基因可能不是通过糖代谢影响ICVD的发生.

Relationship between phosphodiesterase 4D gene polymorphism and ischemic cerebral vascular disease

Objective To investigate the relationship between phosphodiesterase 4D (PDE4D) gene polymorphism and ischemic cerebral vascular disease( ICVD) in the Han people in China. Methods The single-nucleotide polymorphism in SNP45,SNP83 and rs918592 of PDE4D gene were determined by PCR-RFLP and the relationship between the them and glycometabolic indeces were analysed in 116 cases( ICVD group) and 110 normal controls (NC group). Results The rate of A-allele in rs918592 was significantly higher in ICVD group (58.6%) and the subgroup of lacunar infarction (63.8%) than that in the NC group (48.6%) (allP<0.05). Neither the rates of its genotypes nor the genotypes or alleles in SNP83 were significantly different in ICVD and NC groups(all P>0.05) No base-variation in SNP45 was found in this study. There was not significantly different of glycometabolic indeces in different genetypes of both SNP83 and rs918592(all P>0.05) . Conclusions The A-allele in rs918592 may one of the risk factors in development of ICVD in the Han people in China. PDE4D gene may be not included glycometabolic mechanism to effect ICVD.