Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis
Endometriosis is a chronic, estrogen-dependent disorder associated with the presence of endometrial cells mainly in the pelvic cavity, causing systemic immune inflammation, infertility, epigenetic dysregulation of differential DNA methylation, coelomic metaplasia, and pain. It affects approximately...
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2025-01-01
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| author | Moncef Benkhalifa Pierre Alain Menoud David Piquemal Jack Y. Hazout Sami Mahjoub Mohammed Zarquaoui Noureddine Louanjli Rosalie Cabry Andre Hazout |
| author_facet | Moncef Benkhalifa Pierre Alain Menoud David Piquemal Jack Y. Hazout Sami Mahjoub Mohammed Zarquaoui Noureddine Louanjli Rosalie Cabry Andre Hazout |
| author_sort | Moncef Benkhalifa |
| collection | DOAJ |
| description | Endometriosis is a chronic, estrogen-dependent disorder associated with the presence of endometrial cells mainly in the pelvic cavity, causing systemic immune inflammation, infertility, epigenetic dysregulation of differential DNA methylation, coelomic metaplasia, and pain. It affects approximately 10–12% of women. Despite decades of research, full pathophysiology, a diagnostic roadmap, and clinical management strategies for endometriosis are not yet fully elucidated. Cell-free DNA (Cf-DNA) in the peripheral blood of diseased and healthy individuals was discovered in the 1950s. Quantifying peripheral Cf-DNA and the specific differential methylation of a group of genes have been proposed as potential non-invasive diagnostic biomarkers for somatic and constitutional genetics and for various other pathological disorders. In this study, we investigated the Cf-DNA levels of 78 young women, 38 of whom had endometriosis confirmed via laparoscopy and 40 of whom were healthy. We found a significant difference between the two groups when Cf-DNA was quantified, with 3.9 times more Cf-DNA in the serum of women with endometriosis. We also identified nine target genes potentially involved in the pathogenesis of endometriosis, with a different methylation profile between the two groups. Our data suggest that the combination of cell-free DNA quantification and the assessment of the epigenetic signature of differential methylation of nine genes can be proposed as a non-invasive predictive and diagnostic test for endometriosis. |
| format | Article |
| id | doaj-art-9a0a9aa5c6254c6b90784fcb36503ec4 |
| institution | Kabale University |
| issn | 2218-273X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj-art-9a0a9aa5c6254c6b90784fcb36503ec42025-01-24T13:25:04ZengMDPI AGBiomolecules2218-273X2025-01-011516910.3390/biom15010069Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis DiagnosisMoncef Benkhalifa0Pierre Alain Menoud1David Piquemal2Jack Y. Hazout3Sami Mahjoub4Mohammed Zarquaoui5Noureddine Louanjli6Rosalie Cabry7Andre Hazout8IVF & Reproductive Genetics and PeRiTox Laboratory, University Hospital & School of Medicine, Picardy University Jules Verne, 80000 Amiens, FranceUnilabs, Molecular Diagnostic Laboratory—Lausanne, CH-1011 Lausanne, SwitzerlandACOBIOM, Biopole Euromédecine II Montpellier, 1682 Rue de la Valsière, 34790 Grabels, FranceENDOLIFE, 28 Rue de Courcelles, 75008 Paris, FranceAlyssa Fertility Group (AFG), Clinique Alyssa, Tunis 1053, TunisiaIRIFIV Center, Les IRIS Clinic, Casablanca 20000, MoroccoIRIFIV Center, Les IRIS Clinic, Casablanca 20000, MoroccoIVF & Reproductive Genetics and PeRiTox Laboratory, University Hospital & School of Medicine, Picardy University Jules Verne, 80000 Amiens, FranceENDOLIFE, 28 Rue de Courcelles, 75008 Paris, FranceEndometriosis is a chronic, estrogen-dependent disorder associated with the presence of endometrial cells mainly in the pelvic cavity, causing systemic immune inflammation, infertility, epigenetic dysregulation of differential DNA methylation, coelomic metaplasia, and pain. It affects approximately 10–12% of women. Despite decades of research, full pathophysiology, a diagnostic roadmap, and clinical management strategies for endometriosis are not yet fully elucidated. Cell-free DNA (Cf-DNA) in the peripheral blood of diseased and healthy individuals was discovered in the 1950s. Quantifying peripheral Cf-DNA and the specific differential methylation of a group of genes have been proposed as potential non-invasive diagnostic biomarkers for somatic and constitutional genetics and for various other pathological disorders. In this study, we investigated the Cf-DNA levels of 78 young women, 38 of whom had endometriosis confirmed via laparoscopy and 40 of whom were healthy. We found a significant difference between the two groups when Cf-DNA was quantified, with 3.9 times more Cf-DNA in the serum of women with endometriosis. We also identified nine target genes potentially involved in the pathogenesis of endometriosis, with a different methylation profile between the two groups. Our data suggest that the combination of cell-free DNA quantification and the assessment of the epigenetic signature of differential methylation of nine genes can be proposed as a non-invasive predictive and diagnostic test for endometriosis.https://www.mdpi.com/2218-273X/15/1/69endometriosisfree circulating DNAmethylation profilingnon-invasive test |
| spellingShingle | Moncef Benkhalifa Pierre Alain Menoud David Piquemal Jack Y. Hazout Sami Mahjoub Mohammed Zarquaoui Noureddine Louanjli Rosalie Cabry Andre Hazout Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis Biomolecules endometriosis free circulating DNA methylation profiling non-invasive test |
| title | Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis |
| title_full | Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis |
| title_fullStr | Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis |
| title_full_unstemmed | Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis |
| title_short | Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis |
| title_sort | quantification of free circulating dna and differential methylation profiling of selected genes as novel non invasive biomarkers for endometriosis diagnosis |
| topic | endometriosis free circulating DNA methylation profiling non-invasive test |
| url | https://www.mdpi.com/2218-273X/15/1/69 |
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