Background: Molecular biology tools, such as the detection of Single Nucleotide Polymorphisms
(SNPs), have been considered to assist in the management of ovarian stimulation protocols.
Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism
of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a
Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group
of fertile women was studied to verify whether there are differences in the genotype distribution between
fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211
G>T is studied for the first time in the Greek population.
Results: The FSH β-211 G>T polymorphism, studied for the first time in the infertile Greek population,
appears to be quite rare. When studying the two polymorphisms separately, statistically significant
differences were obtained that concerned the LH levels.
Discussion: According to the combination analysis of the two polymorphisms by the number of alleles,
women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences
in pregnancy rates.
Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the
Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of
ovarian response to exogenous gonadotropins.