Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF

Sundarrajan, C.; Wu, Liao; Roy, A.C.; Ng, Soon-Chye

doi:10.1093/molehr/5.9.797

Cited by 63 publications

(63 citation statements)

References 38 publications

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“…Some studies report different incidence of the PvuII and XbaI polymorphisms between fertile women and infertile women undergoing IVF [3], while others report no differences between IVF patients and controls [11,30]. The frequencies of the polymorphisms in our sample are comparable with those previously observed in another IVF population [1], despite the different ethnic groups among the two studies.…”

Section: Discussionsupporting

confidence: 80%

“…The research teams of Georgiou [11] and Sundarrajan [30] were the first to investigate the possible impact of the genotype concerning PvuII polymorphism on ESR1 gene in women undergoing IVF. More recently, Altmäe et al evaluated the impacts of ESR1 PvuII, XbaI and (TA)n genotypes on the etiology of female infertility, as well as their contributions to the COS and pregnancy outcome of IVF in 159 infertile women undergoing IVF-ET [1] .…”

Section: Discussionmentioning

confidence: 99%

“…The T and C allele of the PvuII are referred as the p and P allele, while the A and G allele of the XbaI are commonly referred as the x and X allele, respectively [31]. PvuII was the first ER polymorphism that has been associated with decreased pregnancy rates after IVF [11,30]. XbaI has also been related with IVF parameters, while both PvuII and XbaI polymorphisms have been associated with the risk of infertility [3].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Anagnostou

Malamas

Mavrogianni

et al. 2013

J Assist Reprod Genet

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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.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Anagnostou

Malamas

Mavrogianni

et al. 2013

J Assist Reprod Genet

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“…ESR1 PvuII polymorphism in women was found to affect pregnancy rate following in vitro fertilization (IVF) [7,8], whereas in males ESR1 XbaI polymorphism was suggested to have an effect on azoospermia or idiopathic severe oligospermia [9].…”

Section: Introductionmentioning

confidence: 99%

“…PvuII polymorphism is reported to be associated with the susceptibility to endometriosis [11] and controlled ovarian hyperstimulation (COH)/pregnancy outcome of IVF [7,8].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility

Ayvaz

Ekmekçi

Baltacı

et al. 2009

J Assist Reprod Genet

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Purpose Association of ESR1 gene PvuII, XbaI and (TA)n microsatellite polymorphisms and woman infertility was evaluated. Methods Infertile(n=104) and fertile(n=107) women were included in this study. We performed polymerase chain reaction-restriction fragment-length polymorphism analysis for detecting ESR1 polymorphisms. Result(s) PvuII and XbaI polymorphisms confered risk for infertility in a simple dominant manner in which a significant relationship was observed between infertile and control women. Infertile women had fewer(<18) short repeat alleles in promotor region. ESR1 genotypes were compared concerning maturation, fertilization, pregnancy rates and embryo quality. Although no difference was found in terms of pregnancy rates, maturation and fertilization rates were significantly smaller in pp and xx genotypes. Also, pp genotypes had significantly lower number of good quality embryos. Long TA repeat in promotor was found to be associated with low fertilization rate. Conclusion(s) Polymorphisms at the ESR1 gene are associated with infertility in this Turkish infertile women population.

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Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women

Modugno

Zmuda

Potter

et al. 2005

Intl Journal of Cancer

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Estrogens exert their effect on the breast through the estrogen receptor. We prospectively investigated breast cancer risk associated with 2 polymorphic sites in the estrogen receptor alpha gene (ESR1). A total of 4,248 Caucasian women from the Study of Osteoporotic Fractures were genotyped for the 2401 T/C and 2354 A/G polymorphisms in ESR1. Cox proportional hazards models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI) for the associations between genotypes and breast cancer. During a mean follow-up of 12.4 years, 252 (5.9%) women developed breast cancer. The HR (95% CI) for breast cancer were 0.928 (0.708, 1.22) and 0.834 (0.538, 1.29) for the 2354 A/ G and A/A genotypes, respectively. Interactions with 2354 variant were observed for smoking (HR 5 1.52 and 1.56 for A/G and A/A smokers, respectively; HR 5 0.74 and 0.60 for A/G and A/A nonsmokers, respectively; interaction p 5 0.03) and walking (HR 5 0.75 and 1.15 for A/G and A/A walkers, respectively; HR 5 0.18 and 0.49 for A/G and A/A non-walkers, respectively; interaction p 5 0.01). There were no differences in the HR for the 2401 T/C genotypes. An interaction between parity and carriage of the T allele was found (HR 5 0.60 vs. 1.12 for nulliparous vs. parous women; interaction p 5 0.03). ESR1 polymorphisms in combination with lifestyle factors may be associated with breast cancer risk in older Caucasian women. ' 2005 Wiley-Liss, Inc.Key words: breast neoplasms; estrogen receptor; genetic polymorphisms; epidemiology; prospective cohort study The actions of estrogen, believed to be a causal factor in postmenopausal breast cancer, 1-4 are mediated by the estrogen receptors (ER). The ER has 2 major forms, a and b. 5,6 The ER-a (ESR1) is of interest in breast cancer because its expression has been associated with the disease. In particular, breast cancer occurs more often when ESR1 is over-expressed in adjacent normal epithelium. 7 Moreover, increased ESR1 expression in normal epithelium is found in older women, 8 as well as in Caucasian women compared to non-Caucasian 9 and Asian 8 women, reflecting age and ethnic-associated patterns of breast cancer risk. In addition, estrogen receptor status is a prognostic factor in breast cancer and a strong predictor of response to endocrine therapy. 10 The ESR1 gene contains several single nucleotide polymorphisms (SNP) 8,11-14 whose functional significance remains unknown. Nonetheless, 2 of these SNP located in intron 1, the IVS1 2401 and IVS1 2354 A/G variants, have been associated with hormonally-related diseases including breast, [15][16][17][18][19] prostate 20 and endometrial 21 cancers. These same 2 SNP have also been associated with other estrogen-linked conditions, 22,23 as well as factors associated with increased breast cancer risk, such as age at menopause 24 and age at menarche. 25 In addition, increased bone mineral density, a potential surrogate marker of cumulative estrogen exposure and a predictor of breast cancer risk, 26 has also been associated with these SNP, 27,28 although...

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Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF

Cited by 63 publications

References 38 publications

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

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

Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility

Association of estrogen receptor α polymorphisms with breast cancer risk in older Caucasian women

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