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

ABSTRACT

Recurrent pregnancy loss [RPL] is a multifactorial disorder. Environmental factors and genetics can affect pregnancy outcomes. 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. 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. 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]. This investigation suggests that the analyzed polymorphisms on ESR1gene are not associated with an increased risk of RPL in the studied population