Investigation on estrogen receptor alpha gene polymorphisms in Iranian women with recurrent pregnancy loss

Background: recurrent pregnancy loss (rpl) is a multifactorial disorder. environmental factors and genetics can affect pregnancy outcomes.objective: conflicting data suggest an association between estrogen receptor alpha (esr1) gene polymorphisms and rpl. in this study, such association was investigated in iranian women with rpl.materials and methods: in this case control study, blood samples were collected from 244 women with a history of three or more consecutive pregnancy losses and 104 healthy women with at least two live births. using polymerase chain reaction- restriction fragment length polymorphism (pcr-rflp), we studied -397c/t and -351a/g polymorphisms on esr1 gene in case and control subjects.results: the genotypic frequencies of -397c/t and -351a/g polymorphisms on esr1were not significantly different between rpl and control groups (p=0.20 and p=0.09, respectively). a significantly negative correlation was observed between -397c/t and -351a/g (r=-0.852, p < 0.001) in rpl women and complete linkage disequilibrium between the investigated polymorphisms was found (d’: 0.959; r-square= 0.758, p < 0.001).conclusion: this investigation suggests that the analyzed polymorphisms on esr1gene are not associated with an increased risk of rpl in the studied population