Investigation of possible relationships of LEP -2548G>A and LEPR Q223R polymorphisms with male infertility

Infertility is the situation in which pregnancy cannot be achieved despite unprotected sexual intercourse within at least one year. There are also genetic factors among many causes of infertility. It has been reported that individuals with a mutation in the leptin (LEP) gene are infertile and that patients with a mutation in the Leptin Receptor (LEPR) gene also lack pubertal development. This study was carried out to determine whether there is a relationship between LEP gene -2548G>A polymorphism and LEPR gene Q223R polymorphism and male infertility. 137 men with infertility disease and 100 healthy male controls were included in this study. Patient and control DNAs obtained from peripheral blood were analyzed using PCR and RFLP methods. Statistical evaluation was made by chi-square and variance analysis. No statistically significant differences were found in the genotype and allele frequencies of patients and controls in terms of LEP-2548G>A(rs7799039) and LEPR Q223R (rs1137101) polymorphisms (p>0.05). In the composite genotype analysis, it was determined that the GGQR composite genotype may pose a risk for infertility (p=0.007). As a result, it has been determined that the polymorphic genotypes of LEP -2548G>A and LEPR Q223R genes may cause infertility in the form of composite, although not individually. We believe that more efficient and precise results can be obtained by conducting these studies in larger populations.