Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis

Luisi, Stefano; Galleri, Letizia; Marini, Francesca; Ambrosini, Guido; Brandi, Maria Luisa; Petraglia, Felice

doi:10.1016/j.fertnstert.2005.08.038

Cited by 48 publications

(36 citation statements)

References 9 publications

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“…Human ER and ER are encoded by different genes located on different chromosomes (locus 6q25.1 and locus 14q23-24.1, respectively) [26][27][28][29]. ER and ER , like all the members of the nuclear receptor super-family, are modular proteins sharing common regions, named A/B, C, D, and E/F, as well as a high sequence homology (Fig.…”

Section: The Structure Of Estrogen Receptorsmentioning

confidence: 99%

Estrogen Signaling Multiple Pathways to Impact Gene Transcription

Marino¹,

2006

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Steroid hormones exert profound effects on cell growth, development, differentiation, and homeostasis. Their effects are mediated through specific intracellular steroid receptors that act via multiple mechanisms. Among others, the action mechanism starting upon 17 -estradiol (E2) binds to its receptors (ER) is considered a paradigmatic example of how steroid hormones function. Ligand-activated ER dimerizes and translocates in the nucleus where it recognizes specific hormone response elements located in or near promoter DNA regions of target genes. Behind the classical genomic mechanism shared with other steroid hormones, E2 also modulates gene expression by a second indirect mechanism that involves the interaction of ER with other transcription factors which, in turn, bind their cognate DNA elements. In this case, ER modulates the activities of transcription factors such as the activator protein (AP)-1, nuclear factor-B (NF-B) and stimulating protein-1 (Sp-1), by stabilizing DNA-protein complexes and/or recruiting co-activators. In addition, E2 binding to ER may also exert rapid actions that start with the activation of a variety of signal transduction pathways (e.g. ERK/MAPK, p38/MAPK, PI3K/AKT, PLC/PKC). The debate about the contribution of different ER-mediated signaling pathways to coordinate the expression of specific sets of genes is still open. This review will focus on the recent knowledge about the mechanism by which ERs regulate the expression of target genes and the emerging field of integration of membrane and nuclear receptor signaling, giving examples of the ways by which the genomic and non-genomic actions of ERs on target genes converge.

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Section: The Structure Of Estrogen Receptorsmentioning

confidence: 99%

Estrogen Signaling Multiple Pathways to Impact Gene Transcription

Marino¹,

2006

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“…Estrogen receptor polymorphisms are associated with multiple reproductive traits including endometriosis [Luisi et al 2006;Xie et al 2009], premature ovarian failure [Bretherick et al 2008;Yoon et al 2010], spermatogenic defect, and uterine leiomyoma [Al-Hendy and Salama 2006;Su et al 2010]. Researchers have attempted to demonstrate an association between ESR gene polymorphisms and abortion.…”

Section: Introductionmentioning

confidence: 99%

The ESR1 gene in unexplained recurrent spontaneous abortion

Pan¹,

Suo²,

Liu³

et al. 2014

Systems Biology in Reproductive Medicine

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Recurrent spontaneous abortion (RSA) is a health problem that affects nearly 1% of fertile couples. However, the underlying etiology and mechanism(s) remain elusive. The aim of this study was to investigate estrogen receptor (ESR) 1 gene polymorphisms for risk association of unexplained recurrent spontaneous abortion (URSA) in the Chinese Han population. The entire coding region of the ESR1 gene was sequenced from 129 URSA patients and 183 healthy controls. There was a significant difference between the G allele and GG genotype distributions, of the ESR1 gene (XbaI) polymorphism, between the URSA and the control groups ( 2 ¼ 14.93, df ¼ 1, p50.001, OR ¼ 2.01 95% CI: 1.41-2.88 by allele; 2 ¼ 12.24, df ¼ 2, p ¼ 0.002 by genotype). The PvuII polymorphism, C allele frequency was higher in RSA than in controls (41.9% vs. 34.7%, respectively). Women carrying C-G haplotype were associated with an increased risk of URSA in this population (permutation test p value ¼ 0.016, OR ¼ 1.76 95% CI: 1.19-2.59). Estrogen receptor 1 gene PvuII and XbaI polymorphisms were associated with URSA in a Chinese Han population. However, independent replication of these associations are necessary to assure veracity.

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“…I polimorfismi del gene del ER sono associati all'aumentata suscettibilità all'endometriosi. Polimorfismi dell'ER-α rappresentano quindi un fattore di rischio per l'endometriosi e rappresentano inoltre un fattore di rischio per l'endometriosi ricorrente, in quanto legato ad un'aumentata attività del ER stesso (14). Polimorfismi in geni che codificano per citochine e proteine immunomodulatrici sono anch'essi implicati nella patogenesi dell'endometriosi.…”

Section: Eziologia E Patogenesiunclassified

Endometriosis: The gynecologist's opinion

et al. 2012

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Endometriosis: the gynecologist's opinion Endometriosis is defined as the presence of endometrial glands and stroma outside the uterine cavity. Endometriosis affects 7- INTRODUZIONESi definisce endometriosi la presenza ectopica di tessuto endometriale, nelle sue componenti ghiandolare e stromale, in sedi differenti dalla cavità uterina. Rappresenta una delle più comuni patologie ginecologiche interessando il 7-10% delle donne in età riproduttiva, il 25-50% delle donne sterili ed il 60% delle pazienti con dismenorrea secondaria. Si stima inoltre che dal 30 al 50% delle donne con endometriosi siano sterili (1). L'endometrio in sede ectopica va incontro alle stesse modificazioni cicliche dell'endometrio eutopico nelle varie fasi del ciclo mestruale. Le sedi interessate dall'endometriosi sono, in ordine di frequenza: ovaie, legamenti utero-sacrali, cavo del Douglas, peritoneo pelvico, salpingi, retto, sigma, vescica e, più raramente, polmone, diaframma, ombelico, cicatrici chirurgiche.EZIOLOGIA E PATOGENESI L'eziologia e la patogenesi dell'endometriosi sono sempre state enigmatiche, dalla prima descrizione fino ad oggi. La teoria dell'impianto di Sampson è attualmente la più accettata. Durante la mestruazione la maggior parte del flusso mestruale è liberato dalle contrazioni uterine in vagina attraverso il canale cervicale; una piccola parte del flusso mestruale, insieme a frustoli di endometrio, giunge f o r p e r s o n a l u s e o n l y

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Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis

Cited by 48 publications

References 9 publications

Estrogen Signaling Multiple Pathways to Impact Gene Transcription

Estrogen Signaling Multiple Pathways to Impact Gene Transcription

The ESR1 gene in unexplained recurrent spontaneous abortion

Endometriosis: The gynecologist's opinion

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