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Global Endometrial DNA Methylation Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

ABSTRACT: Global Endometrial DNA Methylation Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

PROVIDER: PRJNA975285 | ENA |

REPOSITORIES: ENA

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Global Endometrial DNA Multi-omics Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

Project description:Endometriosis is a leading cause of pain and infertility affecting millions of women globally. Biological and genetic effects on DNA methylation (DNAm) can influence gene regulation and contribute to complex disease. Herein, we characterize variation in endometrial DNAm and its association with menstrual cycle phase, endometriosis, and genetic variants through analysis of genome-wide genotype data and methylation at 759,345 DNAm sites in endometrial samples from 984 deeply-phenotyped participants. We estimate that 15.4% of the variation in endometriosis is captured by DNAm and identify significant differences in DNAm profiles and DNAm networks, associated with endometriosis, endometriosis sub-phenotypes and menstrual cycle phase, including opening of the window for embryo implantation. DNAm quantitative trait locus (mQTL) analysis identified 118,185 independent cis-mQTLs including 51 associated with risk of endometriosis highlighting candidate genes contributing to disease risk. Our work provides functional evidence for epigenetic targets contributing to endometriosis risk and pathogenesis. Data generated serve as a valuable resource for understanding tissue-specific effects of methylation on endometrial biology in health and disease.

2023-09-12 | GSE223817 | GEO

Global Endometrial DNA Methylation Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

Project description:Global Endometrial DNA Methylation Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

| PRJNA975284 | ENA

Global Endometrial DNA Multi-omics Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

Project description:Global Endometrial DNA Multi-omics Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk and Endometrial Function

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Endometrial methylome of patients without endometriosis

Project description:Alterations in endometrial DNA methylation profile have been proposed as one potential mechanism initiating the development of endometriosis. However, the normal endometrial methylome is influenced by the cyclic hormonal changes and the menstrual cycle phase-dependent epigenetic signature should be considered when studying endometrial disorders. So far, no studies have been performed to evaluate the menstrual cycle influences and endometriosis-specific endometrial methylation pattern at the same time. Therefore, we used Infinium HumanMethylation 450K BeadChip arrays to explore DNA methylation profiles of endometrial tissues from various menstrual cycle phases. Infinium HumanMethylation 450K BeadChip arrays were used to explore DNA methylation profiles of endometrial tissues from mid secretory cycle phase from 17 patients without endometriosis

2016-02-15 | E-GEOD-73949 | biostudies-arrayexpress

Endometrial methylome of patients with endometriosis

Project description:Alterations in endometrial DNA methylation profile have been proposed as one potential mechanism initiating the development of endometriosis. However, the normal endometrial methylome is influenced by the cyclic hormonal changes and the menstrual cycle phase-dependent epigenetic signature should be considered when studying endometrial disorders. So far, no studies have been performed to evaluate the menstrual cycle influences and endometriosis-specific endometrial methylation pattern at the same time. Therefore, we used Infinium HumanMethylation 450K BeadChip arrays to explore DNA methylation profiles of endometrial tissues from various menstrual cycle phases. Infinium HumanMethylation 450K BeadChip arrays were used to explore DNA methylation profiles of endometrial tissues from various menstrual cycle phases from 24 patients with endometriosis

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Proteomics of ectopic endometrial cell-derived exosomes in endometriosis

Project description:We primary cultured ectopic endometrial cells from patients with endometriosis (2 cases) and without endometriosis(2 cases) and collected cell culture supernatants（P0). We isolated exosomes from cell culture supernatants by differential centrifugation and then performed proteome analysis on the two groups of exosomes to investigate the role of ectopic endometrial cell-derived exosomes in the development of endometriosis.

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Endometrial methylome of patients without endometriosis

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Endometrial methylome of patients with endometriosis

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Single-cell Transcriptomics of Endometrial Cells from Patients with Minimal/mild Endometriosis.

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Gene expression signature of endometrial samples from women with and without endometriosis.

Project description:Endometriosis is a benign gynecological disease characterized by the presence of endometrial-like cells outside the uterus. The prevalence of this disease reaches 10-15% in women of reproductive age which accounts for approximately 200 mln of women worldwide. The existing therapeutic approaches include medications and surgical options, but the risk of post-treatment recurrence of endometriosis remains high. There are currently no effective biomarkers of endometriosis in clinical practice and laparoscopy remains the gold standard for its diagnosis. However, laparoscopy is highly invasive procedure that frequently leads to complications and cannot be used as a routine screening test. In this study we profiled by RNA sequencing 52 endometrial pathological samples and 12 corresponding normal human tissues. We performed two-step differential gene expression analysis of endometrial samples and lesions of patients with endometriosis in comparison with normal reproductive tissues. Based on this analysis we generated a characteristic signature of five genes downregulated in endometriosis with respect to healthy endometrium. The 5-gene expression signature identified had significant predictive power (AUC>0.85) thus suggesting that the marker gene set identified can be used for a low invasive molecular diagnostic of endometriosis. Our data also suggest that the statistical method of five-fold cross validation of differential gene expression analysis procedure can be used for the ability to generate robust gene signatures using real-world clinical data.

2019-10-01 | GSE135485 | GEO

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