Angiotensin-converting-enzyme gene insertion-deletion polymorphism and renin angiotensin aldosterone system activity in different phenotypes of polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a common condition. Its pathophysiology involves an interaction between genetic and environmental factors, resulting in different reproductive and metabolic subtypes. Genetic variation in the angiotensin converting enzyme (ACE) gene has been implicated in the pathophysiology of the syndrome. Our project aims to investigate the relationship between the ACE I/D (insertion/deletion) polymorphism and circulating levels of ACE activity, renin and aldosterone in PCOS. Patients and methods: PCOS and healthy donors were enrolled over 2 years. The Rotterdam criteria were used to segregate 4 phenotypes. Enrolled controls were matched to PCOS patients for body mass index. Clinical data were recorded and blood samples were taken for analysis of ACE I/D polymorphism and biochemical parameters. Hardy-Weinberg equilibrium evaluation, mean/median comparison and Spearman correlation were performed. Results: A total of 102 women with PCOS and 107 controls were involved in the study. The most common polymorphism was ID, both in the control and PCOS groups. Renin levels in PCOS patients were positively correlated with luteinizing hormone (LH) and anti-mullerian hormone (AMH) in the ID genotype and with testosterone, free androgen index and insulin in the DD genotype. Conclusion: The ACE I/D variation may influence the pathophysiology of PCOS subtypes, together with an indirect relationship with renin. Our findings may provide valuable therapeutic insights into the management of PCOS, particularly regarding the potential need for ACE inhibitors or renin inhibitors tailored to ACE gene I/D genotypes or specific subtypes.