Allele Frequency of Intron Variants and Its Association with Blood Pressure.

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.