Merli Saare

STUDY QUESTION: Can a large-scale genome-wide association study (GWAS) meta-analysis identify genomic risk loci and likely involved genes for female genital tract (FGT) polyps, provide insights into the biological mechanism underlying their…

Endometriosis is a chronic hormone-dependent disease characterized by the spread of endometrial cells outside the uterus, which form endometriotic lesions and disrupt the functions of the affected organs. The etiopathogenesis of endometrios…

Abstract Current therapeutics of endometriosis are limited to hormonal action on endometriotic lesions to disrupt their growth. Based on the recent findings of the high utilization of glycolysis over oxidative metabolism (Warburg-like effec…

Current therapeutics of endometriosis focus on hormonal disruption of endometriotic lesions (ectopic endometrium, EcE). Recent findings show higher glycolysis utilization in EcE, suggesting non-hormonal strategy for disease treatment that a…

Endometriosis is a chronic inflammatory gynaecological disease characterized by the growth of endometrial tissue outside the uterine cavity. There are currently no definitive non-invasive diagnostic tools. Glycosylation is the most common p…

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genom…

STUDY QUESTION: Do the spectrum and prevalence of comorbidities of endometriosis and irritable bowel syndrome (IBS) overlap? SUMMARY ANSWER: Despite several overlapping symptoms, the most significantly associated comorbidities of endometrio…

The current diagnostic and therapeutic strategies for endometriosis are limited. Although endometriosis is a benign condition, some of its traits, such as increased cell invasion, migration, tissue inflammation, and angiogenesis are similar…

STUDY QUESTION: What is the physiological role of transforming growth factor-beta (TGF-β1) and syndecans (SDC1, SDC4) in endometriotic cells in women with endometriosis? SUMMARY ANSWER: We observed an abnormal, pro-invasive phenotype in a s…

Transcriptome profiling of 57 endometrial receptivity genes specifies the menstrual cycle phase of endometrial samples.

STUDY QUESTION: Is there molecular evidence for a link between endometriosis and endometriosis-associated ovarian cancers (EAOC)? STUDY ANSWER: We identified aberrant gene expression signatures associated with malignant transformation in a…

microRNA (miRNA) expression level alterations between endometrial tissue and endometriotic lesions indicate their involvement in endometriosis pathogenesis. However, as both endometrium and endometriotic lesions consist of different cell ty…

Alterations in the DNA methylation pattern of endometriotic lesions and endometrium of endometriosis patients have been proposed as one potential factor accompanying the endometriosis development. Although many differentially methylated gen…

Abstract The aetiology of endometriosis is still unclear and to find mechanisms behind the disease development, it is important to study each cell type from endometrium and ectopic lesions independently. The objective of this study was to u…

Endometrioosi diagnoosimiseks puuduvad siiani mitteinvasiivsed ja minimaalselt invasiivsed biomarkerid ning haiguse diagnoos põhineb peamiselt laparoskoopilisel operatsioonil ja endometrioosikollete histoloogilisel uuringul. Kuigi endometri…

Genome-wide association studies in the fields of reproductive medicine and endocrinology are yielding robust genetic variants associated with disease. Integrated genomic, transcriptomic, and epigenomic molecular profiling studies are common…

Differentially methylated regions between women with endometriosis and healthy women. The methylation data of all patients was compared to controls. Menstrual cycle day has not been taken into account. (XLSX 15 kb)

Differentially methylated regions between different menstrual cycle phases. The methylation data of each menstrual cycle phase was compared to other phases. (XLSX 2676 kb)

Functional annotation clustering of hypo- and hypermethylated genes in endometrial tissue using g:profiler bioinformatics tool. The complete lists of DMRs between different menstrual cycle phases was used to create the lists of Gene Ontolog…

Pathway analysis of hypo- and hypermethylated genes in endometrial tissue using g:profiler bioinformatics tool. The complete lists of DMRs between different menstrual cycle phases was used to create the list of Kyoto Encyclopedia of Genes a…

Menstrual cycle phase specific genes. The list of late-secretory and menstrual phase specific hyper- and hypomethylated genes. (XLSX 28 kb)