Investigation of relationship between FSHR gene functional polymorphism at codon680 and infertility in Iranian females

Aim and Follicular stimulating hormone (FSH) is a glycoprotein and widely used for the treatment of infertility, and its action is mediated by FSH receptor (FSHR).There are several SNPs in FSHR gene of which determine the ovarian response to FSH. One of them is located at position 680 (Asparagine (N) to Serine (S)). Polymorphic sites give rise to three discrete variants of FSHR: NN, NS, and SS. We evaluated this functional polymorphism site in Iranian infertile women who undergo in vitro fertilization (either successful or failed).
31 incident cases and 30 controls were analyzed using PCR and direct sequencing for Asn/Ser at position 680 polymorphism.
In normal group Ser680/Ser680 genotype was more frequent than infertile patients. These findings failed to support the relationship between this polymorphism and infertility in evaluated Iranian women. However the total amount of FSH consumed by Ser680 in infertile patients was more than that was used by Asn680 group. A logistic regression analysis between the groups with Ser680 and Asn680 showed that Ser680 showed poor response to FSH.
Our results suggested that Asn680Ser polymorphism can be used as a marker for considering FSH dosage in patients undergoing IVF, and a personalized FSH therapy may be applied based on patientś genotype at this polymorphism site in clinical setting.