Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas

Polycystic ovarian syndrome (PCOS) has been recognized as the most prevalent endo-crine-metabolic disorder in women of reproductive age. As it is a polygenic disorder; multiple genes determining PCOS susceptibility have been identified, including the FSHR gene. In this study, the susceptibility of 3 SNPs to PCOS in the FSHR gene was evaluated in a sample of Colombian women. The study included 49 patients and 49 participants in the control group. Allelic discrimination was performed by iPLEX and the MassARRAY system (Agena Bioscience). In addition to the PCOS risk analysis, a genotype-phenotype analysis, and a linkage disequilibrium (LD) analysis were performed in PCOS women. No associations were found between SNPs in FSHR and the risk of PCOS. It was identified that rs2268361 was associated with low FSH levels, high LH, and post-glucose levels. Associations with younger menarche were identified in rs2349415, and associations with high levels of TSH, and low levels of E2 were found in rs11692782. SNPs rs2349415 and rs11692782 showed a strong LD. No differences were observed in the distribution of haplotypes between groups. This exploratory study provides preliminary results that can be used for future research with a larger sample size and adequate statistical power.