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      ESR1 rs9340799 Is Associated with Endometriosis-Related Infertility and In Vitro Fertilization Failure

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          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.

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          Most cited references 40

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          Alternative splicing: increasing diversity in the proteomic world.

          How can the genome of Drosophila melanogaster contain fewer genes than the undoubtedly simpler organism Caenorhabditis elegans? The answer must lie within their proteomes. It is becoming clear that alternative splicing has an extremely important role in expanding protein diversity and might therefore partially underlie the apparent discrepancy between gene number and organismal complexity. Alternative splicing can generate more transcripts from a single gene than the number of genes in an entire genome. However, for the vast majority of alternative splicing events, the functional significance is unknown. Developing a full catalog of alternatively spliced transcripts and determining each of their functions will be a major challenge of the upcoming proteomic era.
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            Pathogenesis and pathophysiology of endometriosis.

            Originally described over three hundred years ago, endometriosis is classically defined by the presence of endometrial glands and stroma in extrauterine locations. Endometriosis is an inflammatory, estrogen-dependent condition associated with pelvic pain and infertility. This work reviews the disease process from theories regarding origin to the molecular basis for disease sequelae. A thorough understanding of the histopathogenesis and pathophysiology of endometriosis is essential to the development of novel diagnostic and treatment approaches for this debilitating condition. Copyright © 2012 American Society for Reproductive Medicine. All rights reserved.
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              p53 regulates maternal reproduction through LIF.

              Extensive studies have shown that p53 is important in tumour prevention. However, little is known about its normal physiological function. Here we show that p53 is important in reproduction, in a gender-specific manner. Significant decreases in embryonic implantation, pregnancy rate and litter size were observed in matings with p53-/- female mice but not with p53-/- male mice. The gene encoding leukaemia inhibitory factor (LIF), a cytokine critical for implantation, was identified as a p53-regulated gene that functions as the downstream mediator of this effect. p53 can regulate both basal and inducible transcription of LIF. Loss of p53 decreased both the level and function of LIF in uteri. Lower LIF levels were observed in the uteri of p53-/- mice than in those of p53+/+ mice, particularly at day 4 of pregnancy, when transiently induced high levels of LIF were crucial for embryonic implantation. This observation probably accounts for the impaired implantation of embryos in p53-/- female mice. Administration of LIF to pregnant p53-/- mice restored maternal reproduction by improving implantation. These results demonstrate a function for p53 in maternal reproduction through the regulation of LIF. Evidence is accumulating that p53 may have a similar function in humans.
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                Author and article information

                Journal
                Dis Markers
                Dis. Markers
                DM
                Disease Markers
                Hindawi Publishing Corporation
                0278-0240
                1875-8630
                2013
                21 December 2013
                : 35
                : 6
                : 907-913
                Affiliations
                1Department of Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Avenida Bento Gonçalves 9500, 43323 M, 91501-970 Porto Alegre, RS, Brazil
                2Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
                3Department of Obstetrics and Gynecology, Federal University of Rio Grande do Sul, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
                4Medical Genetics Service and National Institute of Science and Technology in Population Medical Genetics (INAGEMP), Hospital de Clinicas de Porto Alegre, Avenida Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
                Author notes
                *Diego Davila Paskulin: diegopaskulin@ 123456gmail.com

                Academic Editor: Irene Rebelo

                Article
                10.1155/2013/796290
                3880708
                24427778
                Copyright © 2013 Diego Davila Paskulin et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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                Research Article

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