The association of CYP11A1 gene polymorphisms with the polycystic ovary syndrome patients

TL;DR

This study found that a specific CYP11A1 gene variant is more common in women with polycystic ovary syndrome compared to healthy controls.

Contribution

The study identifies a significant association between CYP11A1 rs4886595 and polycystic ovary syndrome in nonobese women.

Findings

CYP11A1 rs4886595 C>A showed significant differences between patients and controls (p=0.01).

CYP11A1 rs4887139 G>A did not show significant differences between the groups.

The study suggests the need for larger genome-wide studies to identify more genetic risk factors for polycystic ovary syndrome.

Abstract

The objective of this study was to investigate the allele frequencies of polymorphisms in genes CYP11A1 rs4886595 and CYP11A1 rs4887139 that are responsible for the steroidogenesis mechanism in polycystic ovary syndrome patients and control females.

Samples were obtained from the Department of Obstetrics and Gynecology in the Near East University Hospital from September 2019 to December 2019. Only the nonobese patients between the ages of 18–40 years were included in this study following informed consent. Obese patients and patients more than 40 years of age were excluded from the study. Nonobese women and normal ovulation were included in the control group. DNA was isolated from blood samples. Real-time polymerase chain reaction (PCR) was used to analyze single nucleotide polymorphisms (SNPs) in various genes linked to polycystic ovary syndrome. The studies were carried out using the samples obtained from 120 women, of whom 55 were nonobese and had normal ovulation, and 65 were polycystic ovary syndrome patients. The allelic frequencies of SNPs in genes linked to polycystic ovary syndrome were calculated using real-time PCR outcomes.

The variation of the CYP11A1 rs4887139 G>A did not show any significance, while the variation of CYP11A1 rs4886595 C>A showed significant differences between the patient and the control groups (p=0.01), respectively.

Future research ought to focus on elucidating the susceptible causes of polycystic ovary syndrome with a wide range of SNPs and more sample size. The genome-wide association studies in polycystic ovary syndrome patients of different origin will be important to identify candidate genes as well as proteins that are implied in polycystic ovary syndrome risk.