Ma X, Zheng S, Shu Y, Wang Y, Chen X
Department of Cardiovascular Medicine, West China Hospital, Sichuan University, Chengdu, China.
Center of Health Physical Examination and Health Management, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Intern Med J. 2016 May;46(5):608-15. doi: 10.1111/imj.12983.
In essential hypertension (EH), 30-50% of the variability in blood pressure is determined by genetic factors. The aldehyde dehydrogenase 2 (ALDH2) gene Glu504Lys polymorphism is associated with 'alcohol flush' and might be associated with EH.
The aim of the present study was to investigate the association of the Glu504Lys polymorphism in the ALDH2 gene with endothelium-dependent dilation (EDD) disorder in Chinese Han patients with EH.
This case-control study enrolled 1210 patients with EH. The control group consisted of 1089 healthy subjects with normal blood pressure. Patients with EH were divided into normal brachial arterial flow-mediated dilation (FMD) (EH1 group, n = 354) versus endothelial dysfunction (EH2 group, n = 856). ALDH2 gene Glu504Lys polymorphism was detected using a DNA microarray.
The ALDH2 AA/AG genotypes and the A allele frequencies were significantly higher in the EH group compared with healthy controls (both P < 0.05) and significantly higher in the EH2 group compared with the EH1 group (79.8 vs 51.4%; 45.0 vs 29.1%, respectively; both P < 0.05). Multivariate logistic regression analyses showed that the ALDH2 gene Glu504Lys polymorphism was independently associated with EH (dominant: odds ratio (OR) = 1.38; 95% confidence interval (95% CI) = 1.14-2.82; P = 0.01; additive: OR = 1.32; 95% CI = 1.12-2.44; P = 0.02) as well as with EDD in patients with EH (dominant: OR = 1.49, 95% CI = 1.16-3.01, P = 0.02; additive: OR = 1.43, 95% CI = 1.10-2.87, P = 0.03).
The ALDH2 Glu504Lys polymorphism was associated with EDD disorders in Chinese Han patients with EH, providing further evidence that this mutation and 'alcohol flush' are not harmless in this Asian population.
在原发性高血压(EH)中,30 - 50%的血压变异性由遗传因素决定。醛脱氢酶2(ALDH2)基因Glu504Lys多态性与“酒精性脸红”相关,可能也与EH有关。
本研究旨在探讨中国汉族EH患者中ALDH2基因Glu504Lys多态性与内皮依赖性舒张功能障碍(EDD)之间的关联。
本病例对照研究纳入了1210例EH患者。对照组由1089名血压正常的健康受试者组成。EH患者被分为肱动脉血流介导舒张功能正常(EH1组,n = 354)和内皮功能障碍(EH2组,n = 856)。采用DNA微阵列检测ALDH2基因Glu504Lys多态性。
与健康对照组相比,EH组中ALDH2基因AA/AG基因型及A等位基因频率显著更高(均P < 0.05);与EH1组相比,EH2组中上述指标也显著更高(分别为79.8%对51.4%;45.0%对29.1%,均P < 0.05)。多因素逻辑回归分析显示,ALDH2基因Glu504Lys多态性与EH独立相关(显性模型:比值比(OR) = 1.38;95%置信区间(95%CI) = 1.14 - 2.82;P = 0.01;累加模型:OR = 1.32;95%CI = 1.12 - 2.44;P = 0.02),也与EH患者的EDD独立相关(显性模型:OR = 1.49,95%CI = 1.16 - 3.01,P = 0.02;累加模型:OR = 1.43,95%CI = 1.10 - 2.87,P = 0.03)。
ALDH2基因Glu504Lys多态性与中国汉族EH患者的EDD障碍相关,进一步证明了在该亚洲人群中这种突变和“酒精性脸红”并非无害。