Pilot study: Alternative spliced variants of the Follicle-Stimulating Hormone Receptor gene in Greek women undergoing In Vitro Fertilisation (IVF)

Assisted Reproduction Technology (ART) has proven to be a valuable tool for infertile couples. Unfortunately, no perfect ovarian stimulation protocol has been designed and ovarian response shows great variability among women. Pharmacogenomics aims at detecting genetic markers so as to individualize protocols in order to maximize ovarian response to treatment. Follicle Stimulation hormone receptor (FSHR) mutations and single nucleotide polymorphisms have been extensively studied. Splice variants of the FSHR have been detected in women undergoing in vitro fertilisation (IVF). This study aims to determine the presence FSH splice variants in Greek women undergoing IVF. RNA was extracted from cumulus cells from 35 women and analysed by real time PCR. Splice variants were detected by gel electrophoresis. Three cases of deletion of exon 9 and 2 cases of insertion of intron 8 were detected in our study group. No association between the presence of splice variants and response to ovarian stimulation was detected. Two live births were detected one in each variant group. Even though these two types of splice variant detected do not show any clinical correlation it is believed that variants of the FSHR may be associated with poor or high response to exogenous gonadotrophin so further research is necessary.