汉族人群乙醛脱氢酶2基因Glu504Lys多态性与原发性高血压患者颈动脉内膜中层厚度增厚的关系及其机制研究  

The relationship and its mechanism between Glu504Lys polymorphism of aldehyde dehydrogenase 2 in Han population and thickening of the carotid intima-media thickness in essential hypertension patients

作　　者：马孝湘[1,2] 刘玉萍[1] 王林[1] 何霞[3] 杨雁华[1] 陈晓平[2] 

机构地区：[1]四川省医学科学院.四川省人民医院健康管理中心,四川成都610072 [2]四川大学华西医院心内科,四川成都610041 [3]四川省医学科学院.四川省人民医院药物基因组实验室,四川成都610072

出　　处：《实用医院临床杂志》2017年第1期40-43,共4页Practical Journal of Clinical Medicine

基　　金：四川省干部保健科研课题(编号:川干研2015-206)

摘　　要：目的探讨汉族人群ALDH2基因Glu504Lys多态性与原发性高血压(Essential hypertension,EH)患者颈动脉内膜中层厚度(CIMT)增厚之间的关系及其作用机制。方法选择四川省人民医院进行体检的EH患者414例,根据CIMT厚度分为CIMT增厚组与CIMT正常组,对CIMT增厚组行肱动脉血流介导的内皮依赖性舒张功能(FMD)检测;分析不同基因型与CIMT增厚的关系及CIMT增厚组中不同基因型携带者与FMD的相关性。结果 CIMT增厚组AG型、AA型、AA/AG基因型及A等位基因频率显著高于CIMT正常组,差异均有统计学意义(均P<0.05)。Logistic回归分析显示ALDH2基因Glu504Lys AA/AG基因与CIMT增厚相关。多元线性回归分析发现,CIMT增厚组中ALDH2基因Glu504Lys AA/AG基因型与FMD值的降低独立相关;将FMD作为变量纳入回归分析后,ALDH2基因多态性与CIMT的相关性较之前明显降低。结论汉族人群ALDH2基因Glu504Lys多态性与EH患者CIMT增厚存在相关性,ALDH2基因Glu504Lys突变可能通过使血管EDD发生障碍导致EH发生CIMT增厚。Objective To explore the relationship and its mechanism between Glu504Lys polymorphism of aldehyde dehydrogenase 2 （ALDH2）in Han population and thickening of the carotid intima-media thickness （CIMT） in essential hypertension （EH） patients. Methods We selected 414 EH patients in Sichuan Province People＇s Hospital and divided into CIMT thickening group and CIMT normality group. The endothelium dependent dilation function was detected by brachial artery flow-mediated dilation （FMD） in the patients with CIMT thickening group. The relationships between different genotypes and thickening of the CIMT and between different ：genotypes and FMD in the EH patients were statistically analyzed. Results The frequencies of AG type, AA type, AA/AG type and A allele in the CIMT thickening group were significantly higher than those in the normal CIMT group （ P 〈 0. 05 ）. Logistic regression a- nalysis demonstrated that AA/AG gene type of ALDH2 Glu504Lys was related to CIMT thickening. Multiple linear regression analysis showed that AA/AG gene type of ALDH2 Glu504Lys was independently related to decreased FMD in the EH patients with CIMT thickness. However, the correlation between ALDH2 gene Glu504Lys polymorphism and EH patients combined with increased CIMT was lowered after including FMD as an independent variable in logistic regression analysis. Conclusion ALDH2 gene Glu504Lys polymorphism in Han population was associated with thickening of CIMT in EH patients. The mutations of ALDH2 gene Glu504Lys lead to CI- MT thickening in EH patients through abnormalities of vascular EDD.

关 键 词：乙醛脱氢酶2 基因 原发性高血压 颈动脉内膜中膜厚度 

分 类 号：R544.1[医药卫生—心血管疾病]