Analysis of ESR1 rs104893956 Polymorphism with Infertility in Guilanian Women

Background: Infertility is a multifactorial disorder with genetic and non-genomic factors. It is estimated that female infertility factors accounts for more than 40%. Estrogen is one of the effective hormons in fertility. Its crucial actions on target tissues are mediated via binding to estrogen receptors(ESR). The ESR1 gene is located on chromosome 6q25.1 and encodes α estrogen receptor. The aim of this study was to analysis of ESR1 rs104893956 polymorphism in female infertility. Materials and Methods: In this case-control study, of 60 infertiles and 55 healthy controls, blood samples were attained. After the extraction of genomic DNA from peripheral blood leukocytes, Allele Specific-PCR (AS-PCR) method was applied for determining the codon polymorphism. Statistical analysis was performed using the MedCalc software (Version 12.1). Results: The frecuency of T allele was significantly higher in patients (58%) than the controls (44%). There was higher frequency of TT genotype of the polymorphism in patients (18.33%) compared with controls (1.8%). Our findings revealed that the patients carrying the TT genotype had a significant increased risk of infertility. Conclusion: The results of this study suggests that ESR1 rs104893956 polymorphism may affect the increased susceptibility to female infertility in Guilan province. The results may be different in other genetic pools or large-studied population.