Association of CYP11B2 T-344C polymorphism with hypertension and plasma aldosterone in a Ghanaian population

The Cytochrome P450 Family 11 Subfamily B Member 2 (CYP11B2) is the gene responsible for the synthesis of aldosterone synthase, the enzyme catalysing the terminal steps in the production of aldosterone. Polymorphism at the promoter region of this gene has been implicated to upregulate the synthesis of aldosterone synthase and the downstream production of aldosterone. A high aldosterone (hyperaldosteronism) is a known risk factor for hypertension. However, the association of the T-344C polymorphism with aldosterone production and the development of hypertension in the Ghanaian population has not been explored. Consequently, this study aims to unravel the relationship between T-344C (rs1799998) polymorphism, hypertension and serum aldosterone level. This study employed a case-control design enrolling 200 subjects of which 100 were hypertensive patients and 100 healthy controls in the Tamale Metropolis. Using a combination of genotyping, biochemical blood analysis and logistic modelling, we reveal that the frequency of the risk allele of rs1799998 (C) was higher amongst the patient group (0.565) than the control (0.315) group (p<0.0001). The adjusted (age and sex) logistic regression model revealed that the TC genotype [OR= 2.17 (1.08-4.38), p=0.0302] and the CC genotype [OR= 6.35 (2.60-15.54, p-value<0.0001] were significantly associated with hypertension. Under the genetic models, the recessive model (CC vs TC+TT) showed that the CC risk genotype was associated with hypertension [OR = 4.055 (1.838-8.949) p<0.001] after adjusting for age and sex. Furthermore, the CC risk genotype was associated with an elevated plasma aldosterone. In conclusion, the CYP11B2 gene polymorphism (T-344C) was associated with high plasma aldosterone and hypertension.