磁共振血管造影在磷酸二酯酶4D基因多态性与缺血性脑卒中相关性研究中的应用

Phosphodiesterase 4D gene polymorphism correlation with MRA findings in patients with ischemic stroke

目的探讨磷酸二酯酶4D（PDE4D）基因多态性与缺血性脑卒中（IS）患者磁共振血管造影（MRA）结果的相关性。方法应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测245例IS患者和208例正常对照组PDE 4D基因SNP83及SNP87酶切多态性。同时开展MRA检查结果与PDE 4D基因SNP83及SNP87多态性相关性分析。结果 245例IS患者中,77.78%患者MRA结果异常,其中,颅外血管（ECMRA）异常占53.37%,颅内（ICMRA）异常占65.80%,两者兼有占41.97%。脑卒中患者的PDE 4D基因SNP 83的CC基因型频率较正常对照组高（OR为3.57,95%CI 1.39～6.52,P〈0.01）;与ICMRA结果正常的患者相比较,ICMRA结果异常的脑卒中患者的PDE 4D基因SNP 87的TT基因型频率增高（OR为0.57,95%CI 0.01～0.43,P=0.01）。PDE 4D基因SNP 83的基因型及等位基因频率与MRA异常结果无显著相关（P〉0.05）。结论 PDE 4D基因SNP 87多态性与MRA结果异常相关。PDE 4D基因SNP 83与IS相关,与MRA结果异常无显著性相关。

Objective To investigate the correlation between phosphodiesterase 4D（PDE 4D） gene polymorphism and MRA findings in patients with ischemic stroke（IS）. Methods Three polymorphisms SNP 83 and SNP 87 in PDE 4D gene were analyzed in 245 patients of IS and 208 controls using polymerase chain reaction-restriction fragment length polymorphism method in a case-control study. Meantime to carry out the polymorphisms SNP 83 and SNP 87 in PDE4 D gene correlation with MRA findings in patients with ischemic stroke. Results Among the 245 patients, MRA was abnormal in 77.78% patients; extracranial MRA（ECMRA） in 55.37%, intracranial MRA（ICMRA） in 65.80% and both were abnormal in 41.97% patients. The frequency of CC genotype of PDE4D83 was significantly higher in the patients with ischemic stroke compared to controls（OR = 3.57, 95%CI 1.39-6.52, P 〈0.01）. The frequency of TT genotype of PDE4D87 was significantly higher in ICMRA abnormalities compared to normal ICMRA（OR = 0.57, 95%CI 0.01-0.43, P =0.01）. The genotype and allele frequency of PDE4D83 was not significantly related to MRA abnormalities（P〉 0.05）.Conclusion The PDE 4D gene SNP 87 polymorphism is associated with MRA abnormalities, but SNP 83 is associated with IS and not significantly related to MRA abnormalities.