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目的研究乙醛脱氢酶2(ALDH2)基因的第504位点(Glu504Lys)多态性与汉族人群高血压的相关性。方法将465名汉族人(无亲缘关系)分为2组,高血压组105例与非高血压组360人,采用基因芯片法比较两组ALDH2基因型的分布频率是否存在差异。结果 465名汉族人的ALDH2的基因型有3种,ALDH2野生纯合子型(ALDH2*1/*1)、ALDH2突变杂合型(ALDH2*1/*2)和ALDH2突变纯合子型(ALDH2*2/*2),高血压组例数和比例分别是73例(69.52%)、30例(28.57%)和2例(1.90%),非高血压组209人(58.05%)、139人(38.61%)和12人(3.33%),这3种基因型在所检测人群中的分布符合Hardy-Weinberg定律(P>0.05)。统计学分析发现,高血压组的ALDH2*1/*1基因型(69.52%)高于非高血压组(58.05%),差异有统计学意义(P<0.05)。结论浙江汉族人群的乙醛脱氢酶2基因多态性与高血压的发生关系密切。
Objective To investigate the association of Glu504Lys polymorphism in ALDH2 gene with hypertension in Han population. Methods 465 Chinese Han people (unrelated) were divided into two groups: 105 cases in hypertension group and 360 cases in non-hypertension group. The frequencies of ALDH2 genotypes in two groups were compared by gene chip method. Results There were three genotypes of ALDH2 in 465 Chinese Han people including ALDH2 * 1 / * 1, ALDH2 * 1 / * 2 and ALDH2 * The number and proportion of hypertensive patients were 73 cases (69.52%), 30 cases (28.57%) and 2 cases (1.90%) respectively, 209 cases 38.61%) and 12 (3.33%) respectively. Hardy-Weinberg’s law (P> 0.05) showed that the distributions of these three genotypes in the tested population were consistent with each other. Statistical analysis showed that the ALDH2 * 1 / * 1 genotype (69.52%) in hypertension group was higher than that in non-hypertension group (58.05%), the difference was statistically significant (P <0.05). Conclusion Acetaldehyde dehydrogenase 2 gene polymorphism in Zhejiang Han population is closely related to the occurrence of hypertension.