Angiotensin-converting enzyme 2 (ACE2) is known as the counter-regulator of the renin–angiotensin system, it cleaves angiotensin II to render Ag 1–7, a potent vasodilator with multiple roles in cardiovascular protection. A few studies have pinpointed ACE2 polymorphisms and their relationship with heart function and hypertension in a sex-dependent manner. These observations still lack replication mostly for admixed populations. This study aimed to report minor allele frequencies of four ACE2 intron variants, rs2285666, rs2048683, rs2106809, and rs4240157, derived from previous research using the GSA, v1.0, microarray in 1231 hypertensive and nonhypertensive patients. Logistic and multiple linear regression models were developed to identify potential associations with hypertension status and systolic and diastolic blood pressure (SBP and DBP). Allele frequency differences were identified for ACE2 rs2048683 and rs4240157 in populations with European ancestry and people of the Americas. Regression analyses identified a significant association of ACE2 rs2048683 and rs4240157 with SBP/DBP in males or females. Our observations confirm sex differences in ACE2 genetic associations with SBP and DBP and contribute to the collection of genetic variation in ACE2 for admixed populations.

中文翻译：

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ACE2内含子变异的等位基因频率及其与血压的关系

血管紧张素转换酶2（ACE2）被称为肾素-血管紧张素系统的反调节剂，它可以切割血管紧张素II来生成Ag 1-7，这是一种有效的血管扩张剂，在心血管保护中起多种作用。一些研究以性别依赖性的方式查明了ACE2多态性及其与心功能和高血压的关系。这些观察仍然缺乏对大多数混合人群的重复。这项研究旨在报告四个ACE2的次要等位基因频率内含子变体rs2285666，rs2048683，rs2106809和rs4240157，它们是根据先前使用GSA v1.0微阵列对1231高血压和非高血压患者的研究得出的。开发了逻辑和多元线性回归模型以识别与高血压状态以及收缩压和舒张压（SBP和DBP）的潜在关联。在欧洲血统的人群和美洲人群中，ACE2 rs2048683和rs4240157的等位基因频率差异得到确认。回归分析确定了男性或女性中ACE2 rs2048683和rs4240157与SBP / DBP的显着相关性。我们的观察结果证实了ACE2中的性别差异与SBP和DBP的遗传关联，并有助于收集ACE2混合人群的遗传变异。