Pilot study on the association of the rs2059807 polymorphism of the INSR gene in a sample of women with polycystic ovary syndrome

Abstract

Introduction: polycystic ovary syndrome (PCOS) is recognized as the most common endocrine-metabolic disorder in women of reproductive age. Genome-wide association studies have identified SNPs in candidate genes that contribute to susceptibility to PCOS and its clinical features. Risk variants have been identified in the insulin receptor gene (INSR), a gene of metabolic importance.

Objective: to identify the association between rs2059807 of INSR and PCOS, as well as its clinical features, in a sample of Colombian women.

Methods: a total of 49 control women and 49 women with PCOS were included. Allelic discrimination of the SNP rs2059807 of INSR was performed using the MassARRAY-Agena Bioscience System. A genotype-phenotype analysis was conducted for the best inheritance model (dominant).

Results: no association was found between the SNP and the risk of PCOS. Women with GA/AA genotypes showed decreased estradiol levels (p=0.008) and postprandial glucose levels (p=0.043), and a higher number of antral follicles (p=0.007) compared to women with the GG genotype. Similar results were observed in Dutch and Chinese populations, where no association between the SNP and PCOS risk was found. However, in the Chinese population, an association was observed between the SNP and anovulation, which relates to our findings of decreased estradiol levels and a higher number of antral follicles.

Conclusion: this is the first pilot study conducted in Colombia that evaluates the association between rs2059807 of INSR and PCOS, and it will serve as a basis for future population studies with greater statistical power.