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Journals
Biomedicines
Special Issues
Molecular and Clinical Aspects of Endometriosis Pathophysiology
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Molecular and Clinical Aspects of Endometriosis Pathophysiology

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 486

Special Issue Editors

Dr. Quanah J. Hudson

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
Interests: endometriosis; lncRNAs; imprinting; epigenetics; biomarkers
Special Issues, Collections and Topics in MDPI journals
Dr. Iveta Yotova

E-Mail Website
Guest Editor
Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
Interests: endometriosis; lncRNAs; imprinting; epigenetics; biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endometriosis is a disease that affects the quality of life and fertility of up to 10% of women worldwide. It is a heterogeneous, estrogen-dependent inflammatory disease that is characterized by the growth of endometrial-like lesions outside of the uterus and is associated with chronic cyclic pain and reduced fertility. Resolving open questions in the pathophysiology of endometriosis may guide better diagnosis and treatment of the disease. Hence, we are pleased to invite submissions of original research articles and reviews on the topic of our Special Issue entitled “Molecular and Clinical Aspects of Endometriosis Pathophysiology”. We look forward to receiving your contributions that address the pathology of endometriosis and relate findings to the potential for improving clinical practice.

Dr. Quanah J. Hudson
Dr. Iveta Yotova
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endometriosis
  • pathophysiology
  • estrogen
  • biomarkers
  • diagnosis
  • therapy

Published Papers (1 paper)

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Research

17 pages, 1504 KiB  
Article
The rs2046210 Polymorphism Is Associated with Endometriosis Risk and Elevated Estrogen Receptor 1 Expression in the Eutopic Endometrium of Women with the Disease
by Katharina Proestling, Martin Schreiber, Heidi Miedl, Quanah J. Hudson, Heinrich Husslein, Lorenz Kuessel, Manuela Gstoettner, Rene Wenzl and Iveta Yotova
Biomedicines 2024, 12(8), 1657; https://doi.org/10.3390/biomedicines12081657 - 25 Jul 2024
Viewed by 268
Abstract
In this focused genetic case–control study, we analyzed two functional single-nucleotide variants (SNVs) associated with breast cancer risk (rs2046210, rs9383590) and one risk SNV for an implantation defect and infertility (rs9340799) for their association with endometriosis susceptibility, progression and ESR1 gene regulation in [...] Read more.
In this focused genetic case–control study, we analyzed two functional single-nucleotide variants (SNVs) associated with breast cancer risk (rs2046210, rs9383590) and one risk SNV for an implantation defect and infertility (rs9340799) for their association with endometriosis susceptibility, progression and ESR1 gene regulation in endometriosis patients. The rs2046210, rs9383590 and rs9340799 SNVs were genotyped in 153 endometriosis patients and 87 control subjects with Caucasian ancestry. We analyzed the association of all SNVs with endometriosis susceptibility in all patients and in subgroups and assessed the concordance between the SNVs. Quantitative reverse transcription PCR was used to determine ESR1 gene expression in the eutopic endometrial tissue of the controls and endometriosis patients. The heterozygous rs2046210 GA genotype was associated with significantly increased endometriosis risk, particularly in younger, leaner and infertile women and with an increased ESR1 gene expression in the eutopic endometrium of these patients, compared to controls. The minor AA genotype of rs2046210 was identified as a potential risk factor for endometriosis progression in women with mild endometriosis. The results from this analysis indicate that rs2046210 may be a functional genetic variant associated with endometriosis development and progression. Full article
(This article belongs to the Special Issue Molecular and Clinical Aspects of Endometriosis Pathophysiology)
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