Background: Female infertility is often of unknown etiology and is a significant medical problem. It occurs when implantation does not occur; a fertilized embryo fails to survive after implantation; or when the egg cannot move from the ovary to the uterus. The aim of this study was to analyze the role of estrogen receptor 1 (ESR1) genotypes in female infertility.
Methods: Blood samples were collected from 114 women with infertility undergoing infertility treatment. Samples were also collected from 115 age-matched control women with at least one live child and with no history of infertility or abortions. Genomic DNA was isolated from the blood samples, and genotyping of the ESR1 gene was performed using polymerase chain reaction-restriction fragment length polymorphism.
Results: The study revealed the presence of two single nucleotide polymorphisms (SNPs) in the ESR1 gene, PvuII and XbaI. Individual analyses of these two polymorphisms showed that the XbaI heterozygote was significantly increased in controls compared to cases (odds ratio-0.39, confidence interval-0.21 to 0.74, p-0.005). The combined analysis of the PvuII and XbaI genotypes showed no significant difference between the case and control samples.
Conclusion: Analysis of the Pvull and Xba1 polymorphisms of the ESR1 gene, demonstrated that the XbaI heterozygote was significantly increased in controls indicating a protective effect.
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