论文部分内容阅读
目的探讨 ALOX5AP 基因启动子区单核苷酸多态性与中国北方汉族人群缺血性脑血管病的相关关系。方法本研究共入选北方汉族脑梗死患者220例,同期年龄与性别匹配的对照组191名。采用聚合酶链反应目的基因扩增和基因直接测序的方法鉴别基因型和单核苷酸多态性分析。病例组和对照组基因型分布差异采用关联分析的方法进行检测。经多元 Logistic 回归方法校正经典血管病危险因素后,分析基因多态性与缺血性卒中的相关关系。结果发现3个 ALOX5AP 启动子区未报道的单核苷酸多态性位点,由这3个位点组成的单体型与缺血性脑血管病的发生明确相关,其中 Hap Ⅰ是一种保护性单体型,可以减少缺血性脑血管病发生(OR 0.54,95% CI 0.408～0.715);而 HapⅡ(OR 2.91,95% CI 1.351～6.239)和 Hap Ⅲ(OR 18.82,95% CI 2.562～138.38)则作为一种危险因素,增加缺血性脑血管病发生的风险。另外,-499和-290位点单核苷酸多态性与全脑动脉粥样硬化密切相关。结论与炎症介质白三烯代谢密切相关的 ALOX5AP 基因启动子区单核苷酸多态性与中国北方汉族人群脑梗死的发生有密切关系。
Objective To investigate the association between ALOX5AP gene promoter SNP and ischemic cerebrovascular disease in Han population in northern China. Methods A total of 220 Han patients with cerebral infarction in northern China were enrolled in this study. There were 191 matched controls of the same age and sex. Polymerase chain reaction (PCR) gene amplification and direct gene sequencing were used to identify genotypes and single nucleotide polymorphisms (SNPs). The differences of genotype distribution between case group and control group were detected by correlation analysis. After multivariate logistic regression was used to correct the risk factors of classical vascular disease, the relationship between gene polymorphism and ischemic stroke was analyzed. The results showed that three haplotypes which were not reported in the promoter region of ALOX5AP promoter and the haplotypes consisted of these three sites were clearly associated with the occurrence of ischemic cerebrovascular disease. Hap Ⅰ was a (OR 0.54, 95% CI 0.408-0.715). Hap II (OR 2.91, 95% CI 1.351-6.239) and Hap III (OR 18.82, 95% CI 2.562 ~ 138.38) as a risk factor, increasing the risk of ischemic cerebrovascular disease. In addition, single nucleotide polymorphisms at -499 and -290 are closely related to atherosclerosis in whole brain. Conclusion The single nucleotide polymorphism (SNP) of ALOX5AP gene, which is closely related to the leukotriene metabolism in inflammatory mediators, is closely related to the occurrence of cerebral infarction in northern Chinese Han population.