Q36R (rs 35431622) Polymorphism in KISS1 Gene and Idiopathic Female Infertility in a Northern Iranian Population

Abstract

Background: Kisspeptins, encoded by KISS1 (kisspeptin) gene binds to its receptor KISS1R (kisspeptin receptor also known as a G-protein coupled receptor GPR54), that is expressed by gonadotropin-releasing hormone (GnRH) neurons and motivates GnRH release. KISS1 and its receptor play a critical role in the regulation of fertility and the mammalian reproductive axis activation, thus affecting fertility and reproduction in human and other species. Mutations in KISS1 gene and its receptor can be as a cause for infertility. However, there is only a limited amount of information available regarding the KISS1 gene mutations and its polymorphisms. The aim of our study was to determine the association of A → G single-nucleotide polymorphism (SNP) Q36R at exon 4 KISS1 gene (rs35431622) polymorphism in KISS1 gene with idiopathic infertility in women from a northern Iranian population. Methods: Sixty-four idiopathic infertile women were found as a case group and 60 fertile women as control ones. Blood samples were taken, DNA was extracted, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was done in order to assess the polymorphism. Results: Heterozygous SNP at nucleotide A to G was identified in the DNA of 6 women from 64 infertile women, and in 2 from 60 women in the control group (P value: 0.31). Conclusions: The results suggested that Q36R (rs35431622) KISS1 gene has no association with female infertility in northern Iran. Because of distinctive gene pools in different geographic populations, results can be different in other investigations.