Polymorphisms in estrogen receptor-α are associated with idiopathic female infertility

Abstract

Abstract. To investigate the relationship between polymorphisms in the estrogen receptor-α (ERα) gene and unexplained female infertility, restriction fragment length polymorphism (RFLP) analysis of ERα was employed in 150 females with idiopathic infertility (study group) and 150 healthy, age-matched females of proven fertility (control group). The results showed that the ERα allele frequencies differed significantly between the study and control groups (P=0.001). The allele identified by PvuII (P) restriction was detected more frequently in the study group (49.0% of individuals) compared to the control group (31.0%; P=0.001), while the allele identified by XbaI (X) restriction was detected less frequently in the study group (19.7%) compared to the control group (35.7%, P=0.001). A similar phenomenon was observed for the distribution of the TA alleles. The TA13 allele was more common in the study group (24.7 vs. 6.7% in controls; P=0.001), while the TA15 allele was less common in the study group (15.3 vs. 27.3% in controls; P=0.034). To conclude, polymorphisms in the ERα gene are associated with idiopathic female infertility. In particular, the P and TA13 alleles may represent significant risk factors, while the X and TA15 alleles may be protective factors.

Endogenous progesterone in unexplained infertility: a systematic review and meta-analysis

“…Du et al reported Erα polymorphisms in UI vs fertile controls [ 90 ]. Significant differences in 4 different Erα allele frequencies were found between the two groups ( p < 0.001).…”

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility

“…It has been suggested that polymorphisms in the genes encoding aromatase (CYP19A1), hyaluronanbinding protein 2 and tissue factor pathway inhibitor could influence their levels of expression in receptive endometrium (Altmae et al, 2009(Altmae et al, , 2011a). Associations of polymorphisms in genes encoding anti-Müllerian hormone and its receptor, estrogen receptor alpha and leukemia inhibitory factor with unexplained infertility have also been reported (Steck et al, 2004;Rigon et al, 2010;Du et al, 2011). Many association studies have been performed in a search for molecular markers for recurrent miscarriage.…”

Association Study of Estrogen Receptor Alpha Gene Polymorphisms with Spontaneous Abortion: Is This a Possible Reason for Unexplained Spontaneous Abortion?

“…Other study in relation to unexplained female infertility detected the P allele of PvuII polymorphism as a risk factor for females' idiopathic infertility, whereas X allele of XbaI had been reported to play a protective role regarding this condition [27]. …”