Aromatase Gene Polymorphism (rs2470152) in Polycystic Ovary Syndrome Patients of Eastern Uttar Pradesh

Abstract

Introduction: Polycystic Ovary Syndrome (PCOS) is the most common endocrine disorder occurring in fertile age women. Its prevalence is increasing and varies day by day in the present population depending on the diagnostic criteria. The diagnostic features of PCOS are known at least but the causative factors which directly or indirectly play a part in it are yet not known. Few studies have demonstrated that aromatase gene with many factors (hormonal, environmental etc.,) may play a role together for the causes of PCOS. Aim: The purpose of this study was to characterise the salient features, frequency of PCOS in Eastern Uttar Pradesh population and aromatase gene polymorphism (rs2470152) analysis with Glyceraldehyde 3-Phosphate Dehydrogenase (GAPDH) as reference gene. Materials and Methods: It was a pilot study where participants were recruited from SS Hospital, BHU between January 2018- 2019. Participants completed a questionnaire with proforma and had to undergo physical examination before inclusion in the study. Single Nucleotide Polymorphisms (SNP) analysis was done for aromatase gene by PCR-RFLP. Allele and genotype distribution among groups were evaluated using the chi-square test or Fisher’s-Exact test. Two-tailed p-values less than 0.05 were considered statistically significant. Results: The data indicated that the prevalence of PCOS was high in reproductive age group and hormone profiles differ in different participants, with features of PCOS. With this it was found that aromatase gene was expressed in both control and PCOS patients, but the aromatase gene polymorphism was not significantly related to PCOS. Conclusion: PCOS was increasingly high in reproductive women of eastern Uttar Pradesh population. Its diagnostic criteria have many parameters that differ from individual to individual. The aromatase gene polymorphism is not found significantly associated with PCOS in the Eastern Uttar Pradesh population.

Keywords

• genetic factors
• hormonal imbalances
• ovarian disease
• population study
• single nucleotide polymorphism