A Potential Relationship Between Estrogen Receptors Polymorphisms, Sperm Function and in vitro Fertilization Success: A Preliminary Study^*

Abstract

Background: Estrogen receptor 1 (ESR1) and 2 (ESR2) play an important role in regulating fertility in the human reproductive system. Polymorphisms of these receptor genes have been implicated in male infertility in both Chinese and Caucasian populations. However, studies have produced inconsistent results. Spermatozoa defects that result in conception deficiencies could be related to estrogens, their receptors, or genes involved in estrogen-related pathways. This study aims to explore the potential association between the ESR1 and the ESR2 polymorphisms in relation to semen parameters of Caucasian males as well as fertilization success. Materials/Methods: A total of 116 males were included in this study. Forty couples underwent conventional in vitro fertilization, while 76 couples were treated by intracytoplasmic sperm injection. Standard semen analyses were performed according to the World Health Organization criteria. Polymerase chain reaction and restriction fragment length polymorphisms were used to determine genotype and allele distributions. Results: A strong association between the ESR1 rs2234693 recognized by PvuII enzyme, genotype/allele distribution and fertilization success was shown. The T allele occurrence was significantly lower in the case of fertilization failure (p = 0.02). Additionally, the TT genotype was absent in the same group (p=0.02). In the case of the remaining analyzed polymorphisms, little to no interdependence of genotype/allele distribution and fertilization success was noted. Conclusions: Apart from ESR1 rs2234693, the study failed to demonstrate that fertilization success was associated with the selected polymorphisms. In most cases, we did not discover a relationship between both estrogen receptors polymorphisms and sperm function.