Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis.

The coordinated action of VEGF, IGF1/2 and H19 factors influences the development of endometriosis. The aim of this study was to analyze the expression level of these genes in patients with endometriosis. The study group consisted of 100 patients who were diagnosed with endometriosis on laparoscopic and pathological examination. The control group consisted of 100 patients who were found to be free of endometriosis during the surgical procedure and whose eutopic endometrium wasnormal on histopathological examination. These patients were operated on for uterine fibroids. Gene expression was determined by RT-PCR. The expression of the VEGF gene was significantly higher in the samples classified as clinical stage 1-2 compared to the control material (p < 0.05). There was also a statistically significant difference between the samples studied at clinical stages 1-2 and 3-4 (p < 0.01). The expression of the VEGF gene in the group classified as 1-2 was significantly higher. IGF1 gene expression was significantly lower both in the group of samples classified as clinical stages 1-2 and 3-4 compared to the control group (p < 0.05 in both cases). The expression of the H19 gene was significantly lower in the group of samples classified as clinical stage 3-4 compared to the control group (p < 0.01). The reported studies suggest significant roles of VEGF, IGF and H19 expression in the pathogenesis of endometriosis.

MicroRNAs (miRNAs) and long non-coding RNAs (lncRNAs) in endometriosis - review of literature.

Endometriosis is a disease of the female genital organs, the causes of which are not fully understood. Recent studies have shown that non-coding RNAs (ncRNAs) like long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) can contribute to the pathogenesis of endometriosis. Profiling of miRNA and lncRNA expression is carried out using state-of-the-art molecular biology techniques (RT-PCR, sequencing, microarray analysis). The use of the latest technologies may make it possible to establish a genetic profile, which is a promising prospect for early diagnosis of endometriosis. In the future, genetic testing may become the gold diagnostic standard and eliminate invasive laparoscopy. In the case of endometriosis, it is important to extend the research to molecular aspects, which may facilitate the diagnosis of the disease or indicate new (based for example ncRNA) treatment methods. The paper presents the latest data on the importance of miRNA/lncRNA in endometriosis.

The Utility of Rectal Water Contrast Transvaginal Ultrasound for Assessment of Deep Bowel Endometriosis.

Deep infiltrating endometriosis (DIE) is characterized by the presence of endometrial tissue outside the uterine cavity that infiltrates at least 5-mm deep below the peritoneal layer. Imagining examinations are the first-choice methods to detect DIE. The aim of this study is to assess whether rectal water contrast transvaginal sonography (RWC-TVS) can be a useful tool for the estimation of the size of deep bowel endometriotic nodules. This retrospective study includes 31 patients subjected to RWC-TVS who underwent surgery due to deep bowel endometriosis between January 2021 and December 2022. Nodule dimensions measured via ultrasound were compared to those of histopathological samples taken after surgery. In total, 52% of patients had endometriosis limited only to the intestines, 19% had endometriotic nodules located at uterosacral ligaments and posterior vaginal fornix, 6% at the anterior compartment, and 13% at a different location. Additionally, 6% of patients had nodules at more than two locations. In all but one case, the intestinal nodules could be seen on RWC-TVS images. The largest nodule dimension measured via RWC-TVS and the size of the equivalent histopathological sample correlated (R = 0.406, p = 0.03). Thus, RWC-TVS allows for the detection of DIE and moderate estimation of the nodule sizes and should be practiced during a diagnostic process.

Long Non-Coding RNA SNHG4 Expression in Women with Endometriosis: A Pilot Study.

BACKGROUND: Endometriosis is a chronic disease of the genital organs that mainly affects women of reproductive age. The analysis of long non-coding RNA (lncRNA) in endometriosis is a novel field of science. Recently, attention has been drawn to SNHG4, which is incorrectly expressed in various human diseases, including endometriosis. AIM: The aim of this pilot study was to analyze the expression of lncRNA small nucleolar RNA host gene 4 (SNHG4) and to investigate its significance in endometriosis. MATERIAL AND METHODS: LncRNA SNHG4 expression was investigated in paraffin blocks in endometriosis patients (n = 100) and in endometriosis-free controls (n = 100) using a real-time PCR assay. RESULTS: This study revealed a higher expression of SNHG4 in endometriosis patients than in controls. A statistically significant relationship between expression level and SNHG4 was found in relation to The Revised American Society for Reproductive Medicine classification of endometriosis, 1996, in the group of patients with endometriosis. CONCLUSION: This pilot study has revealed that gene expression in SNHG4 plays an important role in the pathogenesis of endometriosis.

Analysis of Long Non-Coding RNA (lncRNA) UCA1, MALAT1, TC0101441, and H19 Expression in Endometriosis.

Endometriosis is a disease of complex etiology. Hormonal, immunological, and environmental factors are involved in its formation. In recent years, special attention has been paid to genetic mechanisms that can have a significant impact on the increased incidence of endometriosis. The study aimed to analyze the expression of four long non-coding RNA (lncRNA) genes, UCA1, MALAT1, TC0101441, and H19, in the context of the risk of developing endometriosis. The material for genetic testing for the expression of lncRNA genes were tissue slices embedded in paraffin blocks from patients with endometriosis (n = 100) and the control group (n = 100). Gene expression was determined by the RT-PCR technique. The expression of the H19 gene in endometriosis patients was statistically significantly lower than in the control group. A statistically significant association was found between H19 gene expression in relation to The Revised American Society for Reproductive Medicine classification of endometriosis (rASRM) in the group of patients with endometriosis. Research suggests that H19 expression plays an important role in the pathogenesis of endometriosis.

An Analysis of ESR2 and CYP19A1 Gene Expression Levels in Women With Endometriosis.

AIM: The analysis of oestrogen receptor (ESR2) and cytochrome P450 family 19 subfamily A member (CYP19A1) gene expression in the context of the risk for endometriosis development. MATERIALS AND METHODS: Tissue specimens, collected from patients with endometriosis (n=100) and from control patients (n=100) embedded into paraffin blocks, provided the material for genetic studies, oriented towards the expression of ESR2 and CYP19A1 genes. The gene expression was assessed by the reverse transcription-polymerase chain reaction technique. RESULTS: Higher expression levels of ESR2 gene were demonstrated in the patients with endometriosis in comparison with the healthy controls. The expression intensity of CYP19A1 gene was associated with endometriosis, manifested as abdominal wall nodules. A relationship was observed between CYP19A1 gene expression and the Revised American Society for Reproductive Medicine classification in the group with ovarian endometrioid cysts, as well as in the group with peritoneal endometriosis. CONCLUSION: This study suggests the significant role of ESR2 and CYP19A1 gene expression in the pathogenesis of endometriosis.

Polymorphisms in the 3'UTR Region of ESR2 and CYP19A1 Genes in Women With Endometriosis.

OBJECTIVE: ESR2 and CYP19A1 genes play a major role in the hormonal control of women with endometriosis. The aim of the study was to analyze single nucleotide polymorphisms (SNPs) in the 3'UTR region of ESR2 and CYP19A1 genes. The study aimed at localisation of new polymorphisms, the nucleotide variants of which determine the level of susceptibility to endometriosis. STUDY DESIGN: The study included n = 200 patients: 100 with endometriosis and 100 healthy controls. The Sanger's sequencing method was applied for polymorphism analysis. RESULTS: Statistically significant correlations were identified between new, not previously described, two SNPs of ESR2 gene and endometriosis: rs4986938 (G>A) and rs928554 (A>G). In the case of rs4986938 polymorphism, the genotype AA was found to decrease the risk of endometriosis (OR = 0.24 95 % PU 0.05-1.22, p = 0.04). Analysis of the rs928554 polymorphism revealed that the occurrence of the AG genotype reduced the risk of endometriosis (OR = 0.38 95 % PU 0.21-0.71, p = 0.002). There were no differences in the distribution of genotypes of the polymorphisms rs10046 (C>T) and rs4646 (C>A) of CYP19A1 gene between patients and control. CONCLUSIONS: Further studies are necessary in groups with higher numbers of patients to explain whether the above-mentioned polymorphisms may be the risk factors for endometriosis.

New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.

OBJECTIVE: Endometriosis is a common gynaecological disease, associated with severe pelvic pain and reduced fertility; however, molecular mechanisms remain largely unknown. Genome-wide association studies (GWAS) are able to identify genetic loci, which can play significant role during endometriosis development. AIM: The study aimed at localisation of new genes and chromosomal loci, the nucleotide variants of which determine the level of susceptibility to endometriosis. STUDY DESIGN: Blood samples from 171 patients with endometriosis were used as material for studies. The patients were recruited to the study at the Department of Operative Gynaecology of the Institute of the Polish Mother's Memorial Hospital in Lodz. A control group (n=2934) came from the POPULOUS collection registered at Biobank Lab, Department of Molecular Biophysics, University of Lodz. DNA of the patients with endometriosis was compared with DNA of women free from that disease, the comparison being supported by GWAS. RESULTS: Genome-wide significant correlation was identified between one new, not previously described, single nucleotide polymorphism (SNP), rs10129516, localised on chromosome 14 in intergenic region between PARP1P2 and RHOJ genes (p=1.44×10-10, OR=3.104, 95% CI=2.329-4.136) and endometriosis. We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 - 32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p=2.04×10-8, OR=1.955, 95% CI=1.541-2.480). CONCLUSION: Reported GWAS identified the novel loci associated with endometriosis in Polish women, not previously reported. The most interesting observation shown in our study are regions associated with susceptibility to endometriosis of loci located near C2, HLA-DRA and RHOJ genes. RESULTS: of that study did not correspond to previously published data about polymorphism in that regions and further evaluations are necessary in groups with higher numbers of patients to explain whether the above-mentioned genetic variant may be the risk factor for pathogenesis of endometriosis.

Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.

AIM: The reported study was designed to explore associations between the ERCC2- R156R gene single nucleotide polymorphism (SNP) and the risk of ovarian cancer. MATERIAL AND METHODS: The R156R (C to A, rs238406) polymorphism of ERCC2 gene was investigated by the PCR-RFLP technique in 400 patients with ovarian carcinoma and 400 age- and sex matched non-cancer controls. Blood samples were obtained from patients treated at the Department of Surgical Gynaecology and Gynaecologic Oncology, Institute of Polish Mothers Memorial Hospital between the years 2000 and 2015. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. RESULTS: Genotype distribution of R156R polymorphism of ERCC2 gene was compared between the patients and controls with significant differences (p<0.05) between the two investigated groups. A possible association was observed between ovarian cancer and the presence of A/A genotype (OR 3.30 95% CI 2.26-4.82, p<0.0001). The variant A allele of ERCC2 increased the risk of ovarian cancer (OR 2.08 95 % CI 1.70-2.54, p<0.0001). A relationship was confirmed between ERCC2 R156R polymorphism and ovarian cancer progression, assessed by the degree of histological grades and FIGO staging (p<0.05). CONCLUSION: This is the first study, linking R156R polymorphism of ERCC2 gene with ovarian carcinoma incidence. In conclusion, ERCC2- R156R polymorphism may be connected with the susceptibility to ovarian cancer.

Wspólczesne metody monitorowania dobrostanu plodu w ciazy powiklanej wewnatrzmacicznym zahamowaniem wzrastania.

Intrauterine growth restriction (IUGR) is one of the most important problems in current perinatology. The number of complications such as intrauterine fetal hypoxia, preterm and operative labours, intrauterine demises and neonatal deaths are signifcantly higher among pregnant women with IUGR. The proper monitoring and assesement of the fetal well-being are crucial to make the right decision about optimal time and mode of delivery.