ACE I/D gene polymorphisms and polycystic ovary syndrome manifestations

Abstract

Objective: Polycystic ovary syndrome (PCOS) is a common multifactorial endocrine disorder affecting women of reproductive age. ACE enzyme is involved in the physiopathology of the ovarian system, and there are inconsistencies between studies regarding the association between ACE gene variants and PCOS. The objective of this study is to evaluate the association between ACE I/D gene polymorphisms and PCOS, as well as its clinical manifestations, in Iranian women with PCOS.

Design: This study included 140 patients with PCOS and 153 controls without the disease. Samples were collected from Yas Hospital Complex in Tehran-Iran during 2018 to 2022. Genomic DNA was obtained from whole blood samples using salt extraction, and genotyping was carried out using polymerase chain reaction (PCR).

Results: Variants of DD, ID, and II were observed in 31.4, 44.3, and 24.3% of PCOS, and 38.6, 44.1, and 17.2% of control group, respectively. The frequency of ACE gene variants did not differ between PCOS patients and control group. A significant difference was observed between the frequency of elevated LH to FSH ratio > 2 and ACE gene polymorphisms in patients with PCOS (OR: 0.32 (0.12-0.88), P value 0.024) with lower frequency observed in D allele carriers.

Conclusion: This study indicate that although ACE I/D variants frequency in PCOS women is similar to non-PCOS women, it may be involved in the pathogenesis of the disease through mechanisms regulating steroidogenesis in the ovary and suggests that ACE might be related to exacerbated clinical manifestations of PCOS which requires further investigations.

Keywords: ACE Gene Polymorphisms; I/D polymorphism; LH to FSH ratio; Polycystic ovary syndrome.

Fig. 1

The Image Depicts the ACE (I/D) Genotyping. The Genotypes were visualized on 2% Gel Electrophoresis. The 490 bp Represents (I allele), the 190 bp Band Indicates the Deletion Allele (D allele), and the Insertion/Deletion (I/D) Allele has 490 bp and 190 bp Bands. NTC, Non-Template Control

Fig. 2

Distribution of ACE I/D polymorphism in the PCOS group in comparison to the Control group