Niu Wenquan, Qi Yue, Hou Shuqin, Zhou Wenyu, Qiu Changchun
National Laboratory of Medical Molecular Biology, the Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College (CAMS/PUMC), Beijing, China.
Transl Res. 2007 Dec;150(6):374-80. doi: 10.1016/j.trsl.2007.06.002. Epub 2007 Jul 2.
Experimental evidence indicates that angiotensin-converting enzyme 2 (ACE2), a homologue of human ACE, might negatively regulate the activated renin-angiotensin-aldosterone system (RAAS) and might function as a protective regulator in the pathogenesis of hypertension. However, association studies regarding ACE2 are sparse in the literature, with negative results in the majority of cases. Here we conducted an association study between 2 intronic polymorphisms (A1075G and G8790A) of the ACE2 gene and stage 2 hypertension in Han Chinese. We genotyped the 2 polymorphisms in 1494 subjects (808 stage 2 hypertensives and 686 normotensives) recruited from the Fangshan district (Beijing). Data were analyzed using chi(2) test, 1-way analysis of variance, and logistic regression where appropriate. The frequency of A1075G allele distribution in males differed significantly (P < 0.0001), whereas the genotype and allele distributions of G8790A polymorphism were similar, between stage 2 hypertensives and normotensives. Systolic blood pressure (SBP) differed significantly in females across both genotypes: SBP was significantly lower in subjects with the 1075AA and 8790GG genotypes, higher in the 1075GG (+13.65 mm Hg versus AA) and 8790AA (+13.36 mm Hg versus GG) genotypes, and intermediate in the 1075AG (+5.76 mm Hg versus AA) and 8790GA (+5.65 mm Hg versus GG) genotypes. Our data suggest that the polymorphism (A1075G) might be a risk factor-at least a marker-for stage 2 hypertension in males and that the 2 studied polymorphisms might be the indicators of systolic hypertension in females.
实验证据表明，血管紧张素转换酶2（ACE2）作为人类ACE的同源物，可能对激活的肾素 - 血管紧张素 - 醛固酮系统（RAAS）起负调节作用，并且可能在高血压发病机制中作为一种保护性调节因子发挥作用。然而，关于ACE2的关联研究在文献中较为稀少，大多数情况下结果为阴性。在此，我们对汉族人群中ACE2基因的两个内含子多态性（A1075G和G8790A）与2期高血压进行了关联研究。我们对从房山区（北京）招募的1494名受试者（808名2期高血压患者和686名血压正常者）的这两个多态性进行了基因分型。在适当情况下，使用卡方检验、单因素方差分析和逻辑回归对数据进行分析。在2期高血压患者和血压正常者之间，A1075G等位基因在男性中的分布频率存在显著差异（P < 0.0001），而G8790A多态性的基因型和等位基因分布相似。在女性中，两种基因型的收缩压（SBP）存在显著差异：1075AA和8790GG基因型受试者的SBP显著较低，1075GG（与AA相比高13.65 mmHg）和8790AA（与GG相比高13.36 mmHg）基因型的SBP较高，1075AG（与AA相比高5.76 mmHg）和8790GA（与GG相比高5.65 mmHg）基因型的SBP处于中间水平。我们的数据表明，多态性（A1075G）可能是男性2期高血压的一个危险因素——至少是一个标志物，并且所研究的这两个多态性可能是女性收缩期高血压的指标。
