Relationship between idiopathic female infertility with KISS1receptor gene mutation in northern Iranian women

The kiss peptins and its receptor G protein coupled receptor (GPR54) or KISS1 receptor system are being described as key signaling molecules for reproductive function in animal models and humans. They play essential roles in regulation of the hypothalamic- pituitary- gonadal (HPG) axis and the onset of puberty and fertility. This study was performed to delineate the association of T305C (Leu 102 Pro) KISS1 receptor gene mutation with idiopathic female infertility in Iranian women.
In this study, 140 healthy women with at least one child and no history of infertility and abortion and 130 idiopathic infertile women were recruited for this study. By using allele specific PCR (AS-PCR) method, the allele and genotype frequencies among infertile and healthy women were determined.
The gene frequencies of the 305 T and C allele of the KISS1 receptor were 45% and 54% among infertile women and 50% and 50% among healthy controls, respectively. The distribution of genotype frequencies in the patients and controls was as follows: TT (Leu/Leu) was 15% and 0%, TC (Leu/Proline) was 60% and 100% and CC (Pro/Pro) was 24% and 0% respectively. Structural analysis was performed using the MedCalc program (version 12). Our results suggests that significant association were not observed in genotype (P=0.8) and allelic (P=0.6) distribution between cases and controls.
The data presented show that mutant allele C is not a risk factor for infertility, suggesting that the presence of KISS1 receptor T305C mutation is probably not associated with idiopathic female infertility in this population (P>0.05).