Pharmacogenomics, Instituto Nacional de Medicina Genómica, INMEGEN, CDMX, México.
Unidad de Investigación Epidemiológica y Servicios de Salud, Área envejecimiento, IMSS, CDMX, México.
DNA Cell Biol. 2020 Nov;39(11):2095-2101. doi: 10.1089/dna.2020.5804. Epub 2020 Oct 5.
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 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 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 rs2048683 and rs4240157 in populations with European ancestry and people of the Americas. Regression analyses identified a significant association of rs2048683 and rs4240157 with SBP/DBP in males or females. Our observations confirm sex differences in genetic associations with SBP and DBP and contribute to the collection of genetic variation in for admixed populations.
血管紧张素转换酶 2（ACE2）被称为肾素-血管紧张素系统的反向调节剂，它可将血管紧张素 II 切割成 Ag 1-7，这是一种具有多种心血管保护作用的强效血管扩张剂。有几项研究以性别依赖的方式指出了多态性及其与心脏功能和高血压的关系。这些观察结果在很大程度上仍然缺乏复制品，主要是因为混合人群。本研究旨在报告四个内含子变异体 rs2285666、rs2048683、rs2106809 和 rs4240157 的次要等位基因频率，这些变异体来自先前使用 GSA、v1.0、微阵列在 1231 名高血压和非高血压患者中进行的研究。建立了逻辑和多元线性回归模型，以确定与高血压状态以及收缩压和舒张压（SBP 和 DBP）的潜在关联。在具有欧洲血统和美洲人群中，鉴定出 rs2048683 和 rs4240157 的等位基因频率差异。回归分析确定 rs2048683 和 rs4240157 与男性或女性的 SBP/DBP 之间存在显著关联。我们的观察结果证实了与 SBP 和 DBP 相关的遗传关联在性别上存在差异，并为混合人群中的遗传变异提供了更多的证据。
