Insertion/deletion of angiotensin-converting enzyme gene polymorphism as a marker of polycystic ovary syndrome (PCOS) development in South Indian cohort women

Abstract

Polycystic ovary syndrome (PCOS) is an endocrine/metabolic disease because of the elevated levels of androgen which could lead to anovulation. The angiotensin-converting-enzyme (ACE) is a zinc metallopeptidase that converts angiotensin I to angiotensin II. ACE is bound to the plasma membrane and expressed in many tissues such as ovarian tissues. The renin-angiotensin system (RAS help the production of angiotensin, angiotensinogen, and ACE. Angiotensin II plays a major role in ovulation, steroidogenesis, follicular atresia and hyperandrogenic syndromes such as PCOS. This study aimed to determine the association of ACE polymorphism in PCOS to analyze the distribution allele frequency of insertion or deletion variation in PCOS patients of the South Indian cohort. A total of 430 women with PCOS confirmed based on the Rotterdam criteria and 300 age and sex-matched control samples were studied. PCR technique was used to determine the frequency of polymorphism in the ACE gene. The genotyping distribution of II, DD and ID in PCOS was 4.56%, 30.23%, and 65.11%, respectively, whereas the control group showed 30%, 20%, and 50% for II, DD and ID, respectively. The deletion (D) allele frequency was 62.79% and insertion (I) allele was 37.2 % in PCOS patients, whereas in the control group, it was 45% and 55% for D and I alleles, respectively. This study concludes that the distribution of deletion (D) allele frequency of ACE could be considered as a genetic marker for PCOS in the South Indian cohort.