ESR1rs9340799 Is Associated with Endometriosis-Related Infertility andIn VitroFertilization Failure

Abstract

Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, is mediated by estrogen signaling, so we hypothesized that ESR1 gene polymorphisms might be candidate risk markers for endometriosis-related infertility and in vitro fertilization (IVF) failure. We included 98 infertile women with endometriosis, 115 infertile women with at least one IVF failure and also 134 fertile women as controls. TaqMan SNP assays were used for genotyping LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1 (rs9340799 and rs2234693) polymorphisms. The SNP ESR1 rs9340799 was associated with endometriosis-related infertility (P < 0.001) and also with IVF failure (P = 0.018). After controlling for age, infertile women with ESR1 rs9340799 GG genotype presented 4-fold increased risk of endometriosis (OR 4.67, 95% CI 1.84–11.83, P = 0.001) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38–8.03, P = 0.007). Our results demonstrate an association between ESR1 rs9340799 polymorphism and infertile women with endometriosis and also with women who were submitted to IVF procedures and had no blastocyst implantation.

Association between leukaemia inhibitory factor gene polymorphism and pregnancy outcomes after assisted reproduction techniques

“…In contrast, Fraga et al (2014) did not observe a correlation between LIF SNP T/G (rs929271) and recurrent pregnancy loss. In the same context, Paskulin et al (2013) found no correlation between LIF SNP T/G (rs929271) and endometriosis or IVF failure. Furthermore, Tagliani-Ribeiro et al (2012) analysed the correlation between genetic polymorphism and the incidence of dizygotic and monozygotic twins, and found no difference between cases and controls in the allelic or genotypic frequencies of LIF T/G (rs929271).…”

Polymorphisms of Estrogen Receptor-α and Estrogen Receptor-β Genes and its Expression in Endometriosis

“…Amplification of the REα gene rs9340799 changes in nucleotide A to G using restriction enzymes XbaI in region intron 1 were reported by Paskulin et al 11 Study from NCBI showed that individuals with genotype AA normal is an individual with a lower risk of cases of endometriosis, whereas individuals with genotype GG has 10 times higher against the risk of endometriosis. The results in this experiment found the proportion of genotype GA in the case of endometriosis was more dominant than the other genotypes.…”

“…This study revealed that the genotype frequencies in control and endometriosis groups showed no difference. Amplification of the REα gene region intron 1 SNP rs2234693 T nucleotide changes into C using the restriction enzyme PvuII as reported by Paskulin et al 11 The second difference in allele frequency in both groups (endometriosis and control) conducted chi-square test. It can be concluded that the genotype frequency in endometriosis and control groups were no difference, as well as statistical tests that appeared no difference in allele frequency between the two groups of the endometriosis and the control with p = 0.422 (p> 0.05).…”

“…They found that REα gene rs2234693 with PvuII enzyme associated with a decreased risk of male infertility, a change in the function of the estrogen receptor (ER) in the subject of polymorphism, in general, has not comprehensible. 13 Amplification of REβ gene region of exon 8 rs4986938 nucleotide changes G / A with restriction enzymes AluI, were done by Paskulin et al 11 Result of statistical test that the frequency of genotypes at REβ showed significant differences in case of endometriosis and control groups, with p = 0.015 (p < 0.05). The distribution of alleles in REβ showed no significant differences between the normal allele G and mutant allele A in the endometriosis case compared to control group.…”

“…10 Likewise REβ gene polymorphism rs4986938 showed the risk of endometriosis and infertility in Brazil. 11 RE gene polymorphism showed inconsistent results between countries/ethnicity and in Indonesia had not done the research on the characteristics of the ER gene, especially in patients with endometriosis. The presence of this polymorphism in the RE gene thought to be contributing to elevated or low levels of expression of the genes.…”