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Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window
Objective Abnormalities in the eutopic endometrium of women with endometriosis may be related to disease-associated infertility. Although previous RNA-sequencing analysis did not show differential expression in endometrial transcripts of endometriosis patients, other molecular alterations could imp...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Revinter Publicações Ltda.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411168/ https://www.ncbi.nlm.nih.gov/pubmed/34318471 http://dx.doi.org/10.1055/s-0041-1730287 |
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author | Da Broi, Michele Gomes Plaça, Jessica Rodrigues Silva, Wilson Araújo da Ferriani, Rui Alberto Navarro, Paula Andrea |
author_facet | Da Broi, Michele Gomes Plaça, Jessica Rodrigues Silva, Wilson Araújo da Ferriani, Rui Alberto Navarro, Paula Andrea |
author_sort | Da Broi, Michele Gomes |
collection | PubMed |
description | Objective Abnormalities in the eutopic endometrium of women with endometriosis may be related to disease-associated infertility. Although previous RNA-sequencing analysis did not show differential expression in endometrial transcripts of endometriosis patients, other molecular alterations could impact protein synthesis and endometrial receptivity. Our aim was to screen for functional mutations in the transcripts of eutopic endometria of infertile women with endometriosis and controls during the implantation window. Methods Data from RNA-Sequencing of endometrial biopsies collected during the implantation window from 17 patients (6 infertile women with endometriosis, 6 infertile controls, 5 fertile controls) were analyzed for variant discovery and identification of functional mutations. A targeted study of the alterations found was performed to understand the data into disease's context. Results None of the variants identified was common to other samples within the same group, and no mutation was repeated among patients with endometriosis, infertile and fertile controls. In the endometriosis group, nine predicted deleterious mutations were identified, but only one was previously associated to a clinical condition with no endometrial impact. When crossing the mutated genes with the descriptors endometriosis and/or endometrium , the gene CMKLR1 was associated either with inflammatory response in endometriosis or with endometrial processes for pregnancy establishment. Conclusion Despite no pattern of mutation having been found, we ponder the small sample size and the analysis on RNA-sequencing data. Considering the purpose of the study of screening and the importance of the CMKLR1 gene on endometrial modulation, it could be a candidate gene for powered further studies evaluating mutations in eutopic endometria from endometriosis patients. |
format | Online Article Text |
id | pubmed-10411168 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Thieme Revinter Publicações Ltda. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104111682023-08-10 Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window Da Broi, Michele Gomes Plaça, Jessica Rodrigues Silva, Wilson Araújo da Ferriani, Rui Alberto Navarro, Paula Andrea Rev Bras Ginecol Obstet Objective Abnormalities in the eutopic endometrium of women with endometriosis may be related to disease-associated infertility. Although previous RNA-sequencing analysis did not show differential expression in endometrial transcripts of endometriosis patients, other molecular alterations could impact protein synthesis and endometrial receptivity. Our aim was to screen for functional mutations in the transcripts of eutopic endometria of infertile women with endometriosis and controls during the implantation window. Methods Data from RNA-Sequencing of endometrial biopsies collected during the implantation window from 17 patients (6 infertile women with endometriosis, 6 infertile controls, 5 fertile controls) were analyzed for variant discovery and identification of functional mutations. A targeted study of the alterations found was performed to understand the data into disease's context. Results None of the variants identified was common to other samples within the same group, and no mutation was repeated among patients with endometriosis, infertile and fertile controls. In the endometriosis group, nine predicted deleterious mutations were identified, but only one was previously associated to a clinical condition with no endometrial impact. When crossing the mutated genes with the descriptors endometriosis and/or endometrium , the gene CMKLR1 was associated either with inflammatory response in endometriosis or with endometrial processes for pregnancy establishment. Conclusion Despite no pattern of mutation having been found, we ponder the small sample size and the analysis on RNA-sequencing data. Considering the purpose of the study of screening and the importance of the CMKLR1 gene on endometrial modulation, it could be a candidate gene for powered further studies evaluating mutations in eutopic endometria from endometriosis patients. Thieme Revinter Publicações Ltda. 2021-07-27 /pmc/articles/PMC10411168/ /pubmed/34318471 http://dx.doi.org/10.1055/s-0041-1730287 Text en Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Da Broi, Michele Gomes Plaça, Jessica Rodrigues Silva, Wilson Araújo da Ferriani, Rui Alberto Navarro, Paula Andrea Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title | Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title_full | Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title_fullStr | Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title_full_unstemmed | Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title_short | Screening of Variants in the Transcript Profile of Eutopic Endometrium from Infertile Women with Endometriosis during the Implantation Window |
title_sort | screening of variants in the transcript profile of eutopic endometrium from infertile women with endometriosis during the implantation window |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411168/ https://www.ncbi.nlm.nih.gov/pubmed/34318471 http://dx.doi.org/10.1055/s-0041-1730287 |
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