Jahrom University of Medical Sciences Pars Journal of Medical Sciences 2717-0284 15 1 2022 12 25 Studying the association of rs587777844 KISS1R gene polymorphism with infertility in a woman population from Guilan province Studying the association of rs587777844 KISS1R gene polymorphism with infertility in a woman population from Guilan province 16 22 700350 10.29252/jmj.15.1.16 FA Zakieh Siahpoosh Hamidreza Vaziri 0000-0001-6325-8349 Hossein Roohi 0000-0001-6325-8349 Journal Article 2022 12 25 The KISS1-derived peptide receptor (KISS1R), as a G protein-coupled receptor (GPCR), transduces a wide variety of extracellular signals into the cell and therefore has a key role in regulating cell function and physiology. KISS1R gene is located on chromosome 19p13.3 and its dysfunction is responsible for wide ranges of diseases including cancer and infertility. Infertility is an inability to conceive after at least one year of unprotected sexual intercourses. It is a multifactorial disorder which affected by male and female factors. Mutations in the KISS1R gene is one of the most important potential causes of infertility. KISS1R has an important role in regulating the Hypothalamic-Pituitary-Gonadal (HPG) axis that leads to regulate reproduction and maturation in vertebrates. The aim of this study was to evaluate the association of Tyr313His (rs587777844) polymorphism of KISS1R gene with female infertility in Guilan province. At first, the blood samples were obtained from 40 infertile women as cases and 40 healthy women as controls. Genomic DNA was extracted from peripheral blood leukocytes and allele specific PCR (AS-PCR) method was applied for determination of codon variation. Statistical analysis using Medcalc software (v 13.0) showed significant differences in genotype frequencies between healthy and patient groups (P-Value = 0.009). The distribution of allele frequencies between two groups also showed significant differences (P-Value = 0.0113). In conclusion, our study suggests that Tyr313His polymorphism of KISS1R gene may be considered as a risk factor for female infertility. The KISS1-derived peptide receptor (KISS1R), as a G protein-coupled receptor (GPCR), transduces a wide variety of extracellular signals into the cell and therefore has a key role in regulating cell function and physiology. KISS1R gene is located on chromosome 19p13.3 and its dysfunction is responsible for wide ranges of diseases including cancer and infertility. Infertility is an inability to conceive after at least one year of unprotected sexual intercourses. It is a multifactorial disorder which affected by male and female factors. Mutations in the KISS1R gene is one of the most important potential causes of infertility. KISS1R has an important role in regulating the Hypothalamic-Pituitary-Gonadal (HPG) axis that leads to regulate reproduction and maturation in vertebrates. The aim of this study was to evaluate the association of Tyr313His (rs587777844) polymorphism of KISS1R gene with female infertility in Guilan province. At first, the blood samples were obtained from 40 infertile women as cases and 40 healthy women as controls. Genomic DNA was extracted from peripheral blood leukocytes and allele specific PCR (AS-PCR) method was applied for determination of codon variation. Statistical analysis using Medcalc software (v 13.0) showed significant differences in genotype frequencies between healthy and patient groups (P-Value = 0.009). The distribution of allele frequencies between two groups also showed significant differences (P-Value = 0.0113). In conclusion, our study suggests that Tyr313His polymorphism of KISS1R gene may be considered as a risk factor for female infertility. https://jmj.jums.ac.ir/article_700350_5c570fd0b7ad71b512eb1118fbab5282.pdf