Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis

Barbosa, Caio Parente; Teles, Juliana Souto; Lerner, Tatiana Goberstein; Peluso, Carla; Mafra, Fernanda; Vilariño, Fabia Lima; Christofolini, Denise Maria; Bianco, Bianca

doi:10.1016/j.fertnstert.2012.01.125

Cited by 20 publications

(17 citation statements)

References 37 publications

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“…We believe that the combined effect of several polymorphisms of the immune system can lead to changes in immune homeostasis contributing to the establishment of endometrial cells in ectopic sites and also the progression of the disease, as previously demonstrated by our group considering FOXP3 and FCRL3 [42]. The discovery of how these polymorphisms act together or protect endometriosis development can be an important step in discovering the pathophysiology of endometriosis and to establish a genetic profile that might lead to endometriosis, contributing to therapeutic management and reproductive prognosis.…”

Section: Discussionsupporting

confidence: 65%

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

et al. 2013

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Section: Discussionsupporting

confidence: 65%

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

et al. 2013

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“…About the endometriosis-associated infertility André et al [67] reported that FoxP3 polymorphisms can be associated with risk of idiopathic infertility (rs2280883 and rs2232368) and endometriosis (rs3761549), and this is congruent with other reports (see before) about the importance of FoxP3 + CD4 + Tregs in the pathogenesis of the disease. A more recent study [68] by the same group adds the hypothesis that FoxP3 and FCRL3 polymorphisms may have a cumulative effect in increasing the risk of developing endometriosis. Furthermore, Ruiz et al's results [69] demonstrated statistically significant differences in genetic variants in lysyl oxidase-like protein 4 (LOXL4) and complement component 3 (C3) in patients with endometriosis-associated infertility versus controls, and in patients with endometriosis versus controls, respectively.…”

Section: Geneticsmentioning

confidence: 99%

Interplay between Misplaced Müllerian-Derived Stem Cells and Peritoneal Immune Dysregulation in the Pathogenesis of Endometriosis

Laganà

Sturlese

Retto

et al. 2013

Obstetrics and Gynecology International

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In the genetic regulation of Müllerian structures development, a key role is played by Hoxa and Wnt clusters, because they lead the transcription of different genes according to the different phases of the organogenesis, addressing correctly cell-to-cell interactions, allowing, finally, the physiologic morphogenesis. Accumulating evidence is suggesting that dysregulation of Wnt and/or Hox genes may affect cell migration during organogenesis and differentiation of Müllerian structures of the female reproductive tract, with possible dislocation and dissemination of primordial endometrial stem cells in ectopic regions, which have high plasticity to differentiation. We hypothesize that during postpubertal age, under the influence of different stimuli, these misplaced and quiescent ectopic endometrial cells could acquire new phenotype, biological functions, and immunogenicity. So, these kinds of cells may differentiate, specializing in epithelium, glands, and stroma to form a functional ectopic endometrial tissue. This may provoke a breakdown in the peritoneal cavity homeostasis, with the consequent processes of immune alteration, documented by peripheral mononuclear cells recruitment and secretion of inflammatory cytokines in early phases and of angiogenic and fibrogenic cytokines in the late stages of the disease.

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“…Endometriosis is an estrogen-dependent gynecological disorder characterized by the presence of endometrium tissue in extrauterine sites (Barbosa et al, 2012;Rahmioglu et al, 2012). The prevalence in the general population is not completely known but it has been estimated that approximately 176 million women worldwide are affected by the disease (Nnoaham et al, 2011) and more than 97% of these women are Caucasian (Bellelis et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

Association between the epidermal growth factor gene polymorphism and endometriosis in women from Brazil

et al. 2014

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ABSTRACT. The aim of this study was to verify the association between the epidermal growth factor (EGF) +61 G/A polymorphism and the susceptibility to endometriosis using a case-control design study. The control group included fertile women without endometriosis and the case group included endometriosis patients. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the EGF +61 G/A polymorphism. Initially, a total of 184 individuals were analyzed. After matching by ethnicity, the control group was composed of 57 individuals, while the endometriosis group was composed of 57 patients. No statistically significant associations were observed between EGF +61 variants and the risk of endometriosis development (P > 0.05). This is the first study correlating the EFG

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Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis

Cited by 20 publications

References 37 publications

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

Interplay between Misplaced Müllerian-Derived Stem Cells and Peritoneal Immune Dysregulation in the Pathogenesis of Endometriosis

Association between the epidermal growth factor gene polymorphism and endometriosis in women from Brazil

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