生命科学学院知识库

原发性高血压是遗传和环境等多因素相互作用的危害人类健康的主要疾病之一， 本研究采用病例－对照组研究方法对血管紧张素转化酶基因（ACE），血管紧张素转化酶 2 基因（ACE2），硬骨鱼紧张素Ⅱ基因（UTS2）单核苷酸多态（SNP）与原发性高血压的关系作一研究。受试者共 551 人.研究采用 PCR-RFLP 方法检测并分析了两组标本上述基因多态性各基因型及等位基因。结果显示：
（1）ACE I/D 基因多态性与西北人群、西北汉族及东乡族原发性高血压无相关性.（2）ACE I/D 基因多态性 D 等位基因与东乡族原发性高血压患者及正常人的某些生理指标相关。（3）UTS2-S89N 中 NS， NN 基因型与 N 等位基因与西北汉族原发性高血相关。（4）UTS2-T21M 基因多态性与西北汉族及东乡族原发性高血压相关。（5）ACE2-8790A 多态性与西北人群、东乡族原发性高血压相关。（6）ACE2-8790A 与原发性高血压患者高水平的总胆固醇，低密度脂蛋白相关。（7）ACE2基因 A1075G 多态性与西北汉族人群、东乡族原发性高血压相关；（8）ACE2 基因 A1075G 多态性 GG 基因型同原发性高血压患者高水平的总胆固醇相关。同正常人高水平的甘油三脂相关。有关 UTS2-S89N SNP、 UTS2-T21M SNP 与原发性高血压的关系均是首次报道。

Essential hypertension (EH) is a common multifactorial disorder. We aimed to assess the significance of three genes’ polymorphisms of Angiotensin-converting enzyme (ACE), Angiotensin-converting enzyme 2 (ACE2) and Urotensin II (UTS2) as risk factors for the different aetiologies of EH in populations of Han and Dongxiang from northwestern China. About 198 EH patients and 131 health controls in the Han population and 120 EH patients and 102 health controls in the Dongxiang pollution were enrolled. Polymerase chain reaction (PCR) and PCR plus restriction fragment length polymorphism (PCR-RFLP) were used to analyze the gene polymorphisms of three genes.There were no statistical significance on age and gender between the two groups (p>0.05).
（1） We found no significant difference in genotypic and allelic frequency of I/D polymorphisms in ACE between EH patients and controls in Han and Dongxiang populations in northwestern china. （2） D alleles of I/D polymorphisms in ACE related to age, SBP and HDL in Dongxiang EH and TC,LDL in Dongxiang controls. （3） The 89NS, 89NN genotype and 89N allele was associated with EH in Han population. （4） UTS2-T21M SNP was associated with EH in Han and Dongxiang population. (5) ACE2-8790A SNP was associated with EH in Dongxiang and northwestern population in china. (6) A alleles of ACE2-G8790A SNP related to TC and LDL in northwestern EH in china. (7) ACE2-A1075G SNP was associated with EH in Han and Dongxiang population in
northwestern china. (8) We also found GG genotype of ACE2-A1075G polymorphisms related to TC in EH and TG in controls. This is the first report that UTS2-S89N SNP and UTS2-T21M SNP was associated with EH .