Estrogen Receptor Alpha and Beta Gene Polymorphisms Are Not Risk Factors for Recurrent Miscarriage in a Brazilian Population

Aléssio, Aline Morandi; Siqueira, Lúcia H.; Carvalho, Egle Cristina Couto de; Barini, Ricardo; Mansur, Antônio de Pádua; Höehr, Nelci Fenalti; Annichino‐Bizzacchi, Joyce Maria

doi:10.1177/1076029607304093

Cited by 22 publications

(16 citation statements)

References 19 publications

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“…In the course of the study of the polymorph loci C148T and 455GA of β-fibrinogen gene, which according a number of researchers are related to APLS and reproductive disorders of women (Aléssio et al, 2008;Jeddi-Tehrani et al, 2011;Tatarchuk et al, 2015), we determined that the group of women with infertility without psychosomatic disorders had a frequency of minor allele of these loci within the values reported in the literature sources (16-29%) (Rupert et al, 1999;Madjunkova et al, 2012;Oszajca et al, 2012), whereas in the patients with psychosomatic disorders it exceeded 40%.…”

Section: Discussionmentioning

confidence: 75%

Prothrombotic states in women with infertility and psychosomatic disorders

Kaminskyi¹,

Boychuk²,

Kolomiichchenko³

2019

Regul. Mech. Biosyst.

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Failures of in vitro fertilization (IVF) may be associated with prothrombotic states, the circulation of antiphospholipid antibodies (APA). 93 women with infertility were screened: the first group 32 women without severe psychosomatic disorders; the second group 61 women with psychosomatic disorders. The control group consisted of 30 fertile women. We carried out measurements in the blood serum of the level of AFA to membrane phospholipids (phosphatidylethanolamine, phosphatidylserine, cardiolipinum), antibodies to β2-glycoprotein (Iβ2-GPI), hemostasis (platelet count, ADP-induced platelet aggregation index, fibrinogen concentration, prothrombin index, activated partial thromboplastin time APTT, test for soluble fibrin-monomeric complexes, D-dimer), homocysteine, molecular genetic study of polymorphous variants for β-fibrinogen (C148T, 455GA) genes. The frequency of significant AFA titres in the group of women without psychosomatic disorders was 18.9%, and in women with psychosomatic disorders 44.3%, the rate of β2-GPI 9.6% in the first group versus 24.5% in the second group. Only in 11.5% of women in the second group elevated levels of APA were associated with β2-GPI and/or one or more clinical criteria for antiphospholipid syndrome (APS). In patients with infertility and psychosomatic disorders, we found increased platelet aggregation in the context of relative thrombocytopenia, higher fibrinogen levels, soluble fibrin-monomeric complexes, and prolonged APTT with elevated D-dimer levels. Some patients had hyperhomocysteinemia. In patients with psychosomatic disorders, the frequency of the minor alleles of the locus C148T and 455GA of the β-fibrinogen gene was greater than 40% (25–30% in first group). We distinguished factors that adversely affect the efficiency of IVF in the patients with psychosomatic disorders: elevation of APA; reduction in the number of thrombocites; growth of the ADP-induced aggregation index; extension of APTT; increase of fibrinogen, D-dimer; homocysteine; the presence of the minor allele of the T polymorphic locus C148T of the β-fibrinogen gene. The presence of prothrombotic states associated with APS should be taken into account when preparing for IVF and the appropriate correction should be made for them.

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Section: Discussionmentioning

confidence: 75%

Prothrombotic states in women with infertility and psychosomatic disorders

Kaminskyi¹,

Boychuk²,

Kolomiichchenko³

2019

Regul. Mech. Biosyst.

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“…In the present meta-analysis, the association between the polymorphisms of ESR1 (rs2234693 and rs9340799) and RSA risk was examined based on seven studies with a total of 836 RSA patients and 1164 healthy controls. [ 15 16 17 18 19 20 21 ] Our results showed that, generally, the polymorphisms of PvuII (rs2234693) and the XbaI (rs9340799) in ESR1 were not related to RSA risk. In the subgroup analysis, there was no significant association between the PvuII (rs2234693) polymorphism of ESR1 and the risk of RSA in both Asian and non-Asian patients.…”

Section: Discussionmentioning

confidence: 77%

“…In the final meta-analysis, seven articles involving a total of 836 cases and 1164 controls were identified from the electronic databases according to the inclusion and exclusion criteria. [ 15 16 17 18 19 20 21 ] The characteristics of the identified studies are presented in Table 1 . These case–control studies were published between 2002 and 2014.…”

Section: R Esultsmentioning

confidence: 99%

“…However, the existing evidence remains controversial because of the inconsistency of findings among studies. [ 19 20 21 ] Although a 2011 study reported no significant association between ESR1 polymorphisms and RSA, the community is still unable to reach a consensus. For example, some studies demonstrated that both the rs2234693 and rs9340799 polymorphisms of ESR1 are associated with increased RSA risk,[ 14 15 ] while other studies reported that only one of the two polymorphisms – either rs2234693 or rs9340799 – affects RSA risk.…”

Section: Introductionmentioning

confidence: 99%

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Association of Estrogen Receptor 1 Genetic Polymorphisms with Recurrent Spontaneous Abortion Risk

Yin

Guo

et al. 2018

Chinese Medical Journal

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Background:Estrogen is one of the most important reproductive steroidal hormones and plays a critical role in the maintenance of pregnancy, and its function is mediated by estrogen receptor 1(ESR1). The polymorphisms of ESR1 were involved in recurrent spontaneous abortion (RSA); however, the association between ESR1 polymorphisms and RSA remains controversial. The present meta-analysis was aimed to clarify the association between ESR1 PvuII (-397C/T, rs2234693) and XbaI (-351A/G, rs9340799) polymorphisms and the risk of RSA.Methods:All the included articles were retrieved from PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, and Wanfang Med Online Database up to January 3, 2018. Data were processed in the Stata 12.0 software. The odds ratios (OR s) and 95% confidence intervals (95% CIs) were calculated using fixed-effects models (FEM)/random-effects models (REM).Results:Seven case–control studies with 836 cases and 1164 controls were included in the study. Generally, the ESR1 polymorphisms were not associated with RSA in any of the genetic analysis models. However, it was found that as rs9340799 polymorphism was related to increased risk of RSA in non-Asian group in the homozygous genetic model (OR = 2.40, 95% CI = 1.05–5.50, P = 0.039). Moreover, in Asian group, rs9340799 polymorphism was found to be related to decreased RSA risk in both the heterozygous model (OR = 0.53, 95% CI = 0.33–0.85, P = 0.009) and the dominant genetic model (OR = 0.55, 95% CI = 0.30–0.98, P = 0.042).Conclusions:Generally, there was no significant association between the polymorphisms of ESR1 and the risk of RSA. However, subgroup analysis indicated that ESR1 rs9340799 polymorphism was related to increased RSA risk in the non-Asian group while associated with decreased RSA risk in Asian group.

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“…Additionally, a haplotype (rs2234693T-rs9340799A) was revealed to be associated with an increased RSA risk [14] . However, there was no genetic association between the ESR1 gene polymorphisms and RSA risk in the Brazilian population [15] . The results of the correlation of ESR1 rs2234693, rs3798759, and rs9340799 and RSA risk in Chinese populations were inconsistent and inconclusive [16–20] .…”

Section: Introductionmentioning

confidence: 99%

The haplotypes GCA and ACA in ESR1 gene are associated with the susceptibility of recurrent spontaneous abortion (RSA) in Chinese Han

Tang

Xiang

et al. 2022

Medicine

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Estrogen receptor is involved in the pathogenesis of recurrent spontaneous abortion (RSA). The ESR1 and ESR2 genes can mediate nongenomic estrogen responses. This study aimed to assess the genetic association between the ESR1 and ESR2 genes polymorphisms and RSA susceptibility in a Chinese Han population. A total of 258 women who had experienced RSA and 264 unrelated healthy women were recruited. Genotypes of the 6 polymorphisms in the ESR1 (rs9340799, rs2234693, and rs3798759) and ESR2 genes (rs207764, rs4986938, and rs1256049) were analyzed using Snapshot technology. No association was detected between the alleles and genotypes of ESR1 rs9340799, rs2234693, and rs3798759 polymorphims and RSA risk (P > .05). Subjects carrying the haplotype of rs9340799A-rs2234693C-rs3798759A had a significantly increased RSA risk in the case group compared with the control group (P = .0005, P adj = .003, odds ratios [95% CI] = 0.35 [0.19-0.65]). However, subjects carrying the haplotype of rs9340799G-rs2234693C-rs3798759A had a significantly decreased RSA risk in the case group compared with the control group (P = .0005, P adj = .003, odds ratios [95% CI] = 2.99 [1.57-5.70]). In addition, no association was found between the alleles, genotypes, and haplotypes of ESR2 rs207764, rs4986938, rs1256049 polymorphisms and RSA risk (P > .05). In conclusion, the haplotype rs9340799A-rs2234693C-rs3798759A of ESR1 might be a risk factor. And the haplotype rs9340799G-rs2234693C-rs3798759A of ESR1 might be a protective factor for RSA in a Chinese Han population.

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Estrogen Receptor Alpha and Beta Gene Polymorphisms Are Not Risk Factors for Recurrent Miscarriage in a Brazilian Population

Cited by 22 publications

References 19 publications

Prothrombotic states in women with infertility and psychosomatic disorders

Prothrombotic states in women with infertility and psychosomatic disorders

Association of Estrogen Receptor 1 Genetic Polymorphisms with Recurrent Spontaneous Abortion Risk

The haplotypes GCA and ACA in ESR1 gene are associated with the susceptibility of recurrent spontaneous abortion (RSA) in Chinese Han

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