Analysis of Association of FSHR 1255G>A Polymorphism with Infertility in Women

Female infertility is one of the multifactorial diseases with a substantial genetic basis. Follicle stimulating hormone receptor (FSHR) encoding gene was mapped to the short arm of chromosome 2. The FSHR gene is expressed by granulosa cells in the ovary and it is an essential factor for regular gonadal development, sexual maturation at puberty and gamet production during the fertile period. The mutation in the FSHR gene leads to decrease in ligand binding to receptor and cAMP levels.
The aim of this study was to evaluate the association between 1255G>A polymorphism at FSHR gene with female infertility.
In this case-control study, 50 infertile women and 74controls were enrolled. Genomic DNA was extracted from peripheral blood. Genotypes were determined by Allele-Spesific PCR. Statistical analysis was performed using the Medcalc program (Ver 12.1).
The results of this study revealed that the frequencies of Ala/Ala,Ala/ Thr and Thr/Thr genotypes in the controls were 45.94%, 42.10% and 10.81%, respectively; while in infertile females they were 22.36%, 63.15% and 15.58%, respectively. A significant difference in genotypes frequencies was found between healthy and patient groups (P=0.008).
The prevalence rates of Ala/Ala and Ala/Thr genotypes were observed to be significantly higher in patients group, compared to control group. Our findings suggest that the 1255G>A polymorphism maybe associated with females infertility. However, the results may be different when selecting different genetic pools or target population size.