External validation of putative biomarkers in eutopic endometrium of women with endometriosis using NanoString technolog
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External validation of putative biomarkers in eutopic endometrium of women with endometriosis using NanoString technology Júlia Vallvé-Juanico 1,2,3,4 & Carlos López-Gil 2,3,5 & Julia Ponomarenko 6,7 & Taisiia Melnychuk 2,3,5 & Josep Castellví 8 & Agustín Ballesteros 1 & Eva Colás 2 & Antonio Gil-Moreno 2,3,5 & Xavier Santamaria Costa 1,2,9 Received: 4 June 2020 / Accepted: 4 October 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose To combine different independent endometrial markers to classify the presence of endometriosis. Methods Endometrial biopsies were obtained from 109 women with endometriosis as well as 110 control women. Nine candidate biomarkers independent of cycle phase were selected from the literature and NanoString was performed. We compared differentially expressed genes between groups and generated generalized linear models to find a classifier for the disease. Results Generalized linear models correctly detected 68% of women with endometriosis (combining deep infiltrating and ovarian endometriosis). However, we were not able to distinguish between individual types of endometriosis compared to controls. From the 9 tested genes, FOS, MMP7, and MMP11 seem to be important for disease classification, and FOS was the most overexpressed gene in endometriosis. Conclusion(s) Although generalized linear models may allow identification of endometriosis, we did not obtain perfect classification with the selected gene candidates. Keywords Endometriosis . Classifier . Endometrium . GLM
Introduction Endometriosis is a benign disease characterized by growth of endometrial tissue outside of the uterine cavity and affects ~ 10–15% of women during their fertile lifespan [1, 2]. The main symptoms are chronic pelvic pain, dysmenorrhea, dyspareunia, and infertility/subfertility, which may cause devastating
psychological effects and limit social lives [2]. Endometriosis is estimated to be mainly responsible for 20–30% of women with subfertility and 40–60% of women with chronic pain [3]. In this sense, women with endometriosis have a two fold increased risk of infertility and pregnancy loss [4]. Laparoscopy is the gold standard to diagnose endometriosis. However, initial diagnosis is delayed on average 4–
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10815-020-01965-6) contains supplementary material, which is available to authorized users. * Xavier Santamaria Costa [email protected]
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Department of Gynecology, Vall d’Hebron Hospital, Barcelona, Spain
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Department of Gynecology, IVIRMA Barcelona S.L., Ronda del General Mitre, 14, 08017 Barcelona, Spain
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Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain
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Group of Biomedical Research in Gynecology, Vall d’Hebron Research Institute, Barcelona, Spain
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Universitat Pompeu Fabra, Barcelona, Spain
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Department of Pathology, Vall d’Hebron Hospital, Barcelona, Spain
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Igenomix, Pate
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