Do estrogen receptor alpha polymorphisms have any impact on the outcome in an ART program?

Abstract

Purpose To investigate two of the most studied estrogen receptor alpha polymorphisms (PvuII and XbaI) in combination, in order to evaluate their impact on an ART program outcome. Methods 203 normally ovulating women who underwent IVF or ICSI treatment were genotyped for PvuII and XbaI polymorphisms in ESR1 intron 1 using Real-Time PCR. The relationship between the presence of polymorphic alleles and the ovulation induction parameters and outcome was examined. Results Women were grouped according to the number of polymorphic alleles they carried in two groups (0-2 versus 3-4 polymorphic alleles). The presence of 3 or more polymorphic alleles was associated with significantly lower E2 levels on the day of hCG administration and a significantly lower rate of good quality embryos. Conclusion There is an association between ESR1 polymorphisms and some ART parameters such as the level of E2 on the day of hCG administration and the quality of the embryos. These results underline the importance of ESR1 as a candidate gene for the prediction of ovarian response to IVF/ICSI protocols. Future research work concerning several more genes is necessary for a better evaluation of patients before entering an IVF/ICSI program.

ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women

“…Compared with the three studies that also analyzed the ERS2 XbaI, Anagnostou et al [ 33 ] similarly showed association between the mutated G allele with worst quality embryos and lower levels of estradiol on the hCG day, which is different from Altmae et al [ 28 ], who found a larger dose of estradiol on the hCG day and per follicle in the GG genotype [ 28 , 33 ]. As discussed earlier, the difference in the results might be due to the exclusion of patients with endometriosis and older than 38 years of age by our study, as it can significantly change the response to COH.…”

“…Furthermore, a different approach was used by Anagnoston in 2013 when he evaluated the number of mutated alleles of PvuI and XbaI and the results of COH/IVF in 203 women. The mutated alleles C (Pvul) and G (Xbal) were associated with the worst quality embryos and smaller estradiol levels on the hCG day [ 33 ]. To prepare this analysis they considered that the two genes had necessarily the same behavior as wild and mutated alleles, a fact that has not been confirmed.…”

Association of estrogen, progesterone and follicle stimulating hormone receptor polymorphisms with in vitro fertilization outcomes

“…Other predictive markers of ovarian response are polymorphisms of the alpha gene of ESR (ESR1); rs2234693, also known as the PvuII restriction polymorphism, and rs9340799, also known as the XbaI restriction polymorphism. Both these polymorphisms have been reported to be associated with the risk of infertility (Anagnostou et al 2013). For the third SNP, the microsatellite length polymorphism ESR1 (TA)n, the longer ESR1 (TA) n microsatellite repeat polymorphism has been reported to be associated with an improved ovarian response to FSH.…”