5-脂氧合酶激活蛋白及磷酸二酯酶4D基因多态性与脑梗死易患性的分子流行病学研究

目的:分析5-脂氧合酶激活蛋白(ALOX5AP)及磷酸二酯酶4D(PDE4D)基因多态性与脑梗死(CI)易患性的分子流行病学特征.方法:收集CI患者396例作为病例组,另选取300名健康体检者作为对照组,运用PCR检测技术和基质辅助激光解析分析2组受检者ALOX5AP基因中SG13S89、SG13S114和PDE4D基因中SNP83的多态性,分析ALOX5AP及PDE4D基因多态性与CI的关系.结果:病例组SG13S89中AG基因型、A等位基因频率均高于对照组(P<0.05).多元logistic逐步回归分析显示,调整年龄、高血压及糖尿病等因素的影响后,SG13S89中AG基因型是增加CI发生的危险性因素(P<0.05);AT型及SAD型CI患者SG13S89基因中的基因型及基因频率差异均无统计学意义(P>0.05);年龄分层后分析发现,女性是增加SG13S89基因中的AG基因型发生脑卒中的危险因素(P<0.05).结论:SG13S89中的AG基因型和A等位基因使得CI的频率高于其他等位基因,可能的机制是通过介导的血管炎性反应实现,而未发现SG13S114及SNP83基因的多态性与CI有关.

The polymorphism of ALOX5 AP and PDE4 D gene and molecular epidemiology of the susceptibility of cerebral infarction

Objective:To analyze the polymorphism of ALOX5AP and PDE4D gene and molecular epidemiology of the susceptibility of cerebral infarction( CI) . Methods:Three hundred and ninty-six patients with CI and 300 healthy people were divided into the CI group and control group. The polymorphism of SG13S89 and SG13S114 in ALOX5AP gene,and SNP83 in PDE4D gene in two groups were detected using PCR and matrix assisted laser desorption,and the relationship between the polymorphism of ALOX5AP and PDE4D gene and CI were analyzed. Results:The AG gene type and allele A frequency in SG13S89 in CI group were higher than those in control group(P<0. 05). Logistic regression analysis showed that the AG gene type in SG13S89 was the risk factor in increasing the CI after adjusting the influence factors of age,hypertension and diabetes mellitus(P<0. 05). The differences of the gene type and frequency of AT and SAD in SG13S89 gene of cerebral infarction patients were not statistically significant(P>0. 05). The age stratification analysis found that female was the risk factor of the CI in increasing AG gene type of SG13S89 of patients(P <0. 05). Conclusions:The frequency of CI in the patients with AG type and A allele in SG13S89 is higher than other alleles,the possible mechanism of which is implemented through mediating vascular inflammatory reaction,and the relationship between the polymorphism of SG13S114 and SNP83 gene and CI is not found.