Investigation of the , and Mutations and Polymorphisms in Iranian Infertile Women with Polycystic Ovary Syndrome (PCOS).

BACKGROUND

Polycystic ovary syndrome (PCOS) is the most common cause of ovarian dysfunction associated with infertility, Oligomenorrhea or amenorrhea, hirsutism, acne, and obesity. A large body of evidence unraveled, three major groups of genes play critical roles in underlying PCOS molecular mechanism. The aim of this study is to investigate critical exonic variant of , and and determine the functionality of these mutations in Iranian patients with PCOS.

METHODS

In this case-control study, 130 patients with PCOS who referred to the Vali-e-Asr Hospital with infertility were included. DNA extracted from three ml of peripheral blood of the participants for DNA extraction. The PCR was conducted for each gene and the PCR product was genotyped by sequencing.

RESULTS

The data showed that there were two polymorphisms in genes which did not change the protein sequences; these alterations can also be considered as a single nucleotide polymorphism (SNP). Moreover, any exonic variant has not been detected in . Whereas, two missense mutation have been detected in FSHR gene including p.Ala307Thr and p.Asn680Ser. It has been shown that the polymorphisms of the gene affect the hormone response in the ovaries. Our data demonstrated that the FSHR mutations frequencies were higher in the patients with PCOS rather than control people significantly.

CONCLUSION

These data showed that the polymorphisms of were significantly associated with PCOS in Iranian infertile women. Further studies with larger sample sizes are needed to be performed for explore the strength of the association.